Overview - PMFG 2024

Dr. Abbirami Sathappan

Dr. Abbirami Sathappan has been at the helm of the Advanced Imaging Core Facility at Sidra Medicine since 2017. She has a strong background in Biomedical Engineering, holding both a bachelor's and master's degree in the field. She earned her Master's from Imperial College London in 2012. In 2024, she earned her PhD in Hematology, Oncology, and Translational Medicine from the University of Genova. Further bolstering her leadership credentials, she completed the Harvard Women's Leadership Program in 2022. Dr. Sathappan is highly regarded for her dedication to education and excellence, consistently providing microscopy training and receiving recognition for her innovative and passionate approach to microscopy. She is responsible for overseeing advanced imaging technologies within the Research Department and works closely with various departments at Sidra Medicine to advance imaging techniques and methodologies. Her primary research interests focus on understanding the interactions between immune and tumor cells within the pediatric tumor microenvironment.

Iman Alazwani

Iman Alazwani is a Senior Research Specialist at the Omics Core of Sidra Medicine, with over 15 years of experience in genomics. She specializes in long-read sequencing and is the founder of the InGen program, which introduces high school students to the field of genomics, sparking interest and building foundational knowledge in the next generation of scientists. Known for her commitment to health and wellness, Iman combines her professional expertise with a dedication to community outreach and education, inspiring others both within and beyond her field.

Fatima Al Ali

Fatima, a Qatari national, is a research specialist in Dr. Matteo Avella's group. Fatima is a skilled in molecular biologist and fish embryologist. She studies genes involved in fertilization and early embryo development in fish and humans. Fatima has authored or co-authored 23 papers in high-impact journals including the New England Journal of Medicine and Cell. She holds a Bachelor's and Honours degree in Immunology from the University of Aberdeen, and a Master's from Robert Gordon University.

Esra Barakat

SomaLogic

Essra Barakat is a dedicated and results-driven Field Application Scientist at Somalogic, where she leverages her strong educational foundation in Genetics to drive success in her role. With a Bachelor of Science degree in Genetics, Essra brings a deep understanding of molecular biology and a passion for scientific advancement to her work.

In her current position at Somalogic, Essra has utilized her technical expertise to support the adoption and implementation of cutting-edge high-affinity proteomics technology, The SomaScan Assay. Her strong communication skills and ability to distill complex scientific concepts into actionable insights have been invaluable in her collaborations with researchers and clinicians.

Essra's most notable achievement has been her instrumental role in the successful onboarding of numerous high-profile clients. Through her proactive approach, in-depth product knowledge, and dedication to exceptional customer service, she has consistently exceeded targets and expanded Somalogic's reach in the market.

Dr. Joel Fellis, Ph.D.

Illumina

Vice President of Product Management and Marketing

Joel is currently Vice President of Product Management at Illumina where he leads marketing for NGS platforms and multiomic assays. Joel has been with Illumina for over 15 years where he has served as the Commercial and Marketing lead for the development and launch of most major platform launches, including HiSeq, HiSeq X, NextSeq, NextSeq 2000, NovaSeq 6000 NovaSeq X Plus, and most recently the MiSeq i100.

Prior to joining Illumina Joel, has held various positions in product management, product marketing and research across industry, government, and academia.

Karthik Ganapathy

Element Biosciences

Karthik Ganapathy is a seasoned product management professional with expertise in genomics, single-cell, and spatial biology. As Associate Director of Product Management at Element Biosciences, he plays a pivotal role in driving innovation and scientific advancements through the introduction of groundbreaking products. Karthik brings a unique blend of scientific insight and product management expertise, having previously contributed significantly to companies such as 10x Genomics and Seer, where he was responsible for product launches spanning next-generation sequencing, plasma proteomics, single cell, and spatial biology that have achieved significant market penetration.
During his tenure at Penn Medicine and The Children’s Hospital of Philadelphia, Karthik spearheaded critical genomics initiatives and developed innovative clinical oncology panels, delivering tangible impact in the fields of pediatric disorders and oncology. Karthik is dedicated to fostering collaboration and driving transformative innovations that benefit both the scientific community and society as a whole.

Dr. Tamara Maas

SOPHiA GENETICS

Senior Director Bioinformatics, SOPHiA GENETICS

Tamara joined SOPHiA GENETICS directly after receiving a joint PhD from Cambridge University and the European Bioinformatics Institute more than 10 years ago. At SOPHiA GENETICS, Dr. Tamara Maas helped set up our pipeline system and build a team focused on supporting our customers as well as customizing our applications to their needs. Currently, she is the Senior Director and head of the Bioinformatics Service Team and while her team is still taking care of customizations and client support, they also support the remaining Data Science department with the development of non-product software aiming to increase team efficiency.

Dr. Tarif Awad

Olink

Tarif joined Olink Proteomics in 2022, serving as Head of Scientific Market Development, with a focus on emerging regions around the world. His responsibilities include facilitating strategic partnerships and collaborations between regional and global thought leaders in population health, translational research, and precision medicine. Prior to entering proteomics, Tarif spent over 20 years in the genomics field, leading scientific support and managing strategic collaborations in biomarker discovery, pharmaceutical development, and reproductive health. Tarif obtained his PhD from the University of Washington and completed postdoctoral training at the Fred Hutch Cancer Research Center, both in Seattle, Washington. He lives in San Francisco, California.

Dr. Siddharth Singh

Parse Biosciences

Sid Singh is the Global Partner Manager at Parse, based in Singapore, specializing in single-cell technology. He champions Parse's Single Cell transcriptomics across the Middle East and Asia-Pacific. With extensive experience in genomics and the pharmaceutical industry, he has successfully managed channel partners for Next-Generation Sequencing and diagnostics products.

Sid is a PhD in Bioinformatics and has 10 years experience at Illumina and PacBio where he has played a key role in customer enablement, overseeing large-scale sequencing projects, and promoting the adoption of NGS technology in the Asia-Pacific region.

Dr. Panos Deloukas

QMUL

Panos Deloukas is Chair of Cardiovascular Genomics and Director William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London (QMUL) and Director of the Greek Institute of Human Genetics, Foundation of Research and Technology, Greece. He is Fellow of The Academy of Medical Sciences (UK) since 2018. Deloukas is a world leader in cardiometabolic genetics and genomics investigating the molecular basis of both common and rare forms of heart disease. He has authored 528 publications (H-index 190) and is amongst the world’s top 1% highly cited researchers in Molecular Biology & Genetics.

Deloukas, who is a co-founder of the CARDIoGRAMplusC4D consortium, has made significant contributions to the discovery of over 240 risk loci for coronary artery disease (CAD). He leads the Precision Cardiovascular Genomic Medicine Theme of the NIHR Barts Biomedical Research Centre and chairs the Functional Genomics subgroup of the Cardiovascular Clinical Interpretation Domain from Genomics England.

Dr. Benedikt Hallgrímsson

Alberta Children's Hospital

Benedikt Hallgrímsson is Professor and Head of the Dept of Cell Biology & Anatomy at the University of Calgary. He is the Deputy Director of the Alberta Children’s Hospital Research Institute and co-leads the Canada First Research Excellence Program “One Child Every Child” which aims to improve outcomes for child health in Canada. The central motivating question of his research program is how genetic and environmental influences impact developmental systems to produce anatomical variation. His program uniquely integrates advanced imaging and measurement (morphometrics) with developmental biology to understand the underlying mechanisms for phenotypic variation. His work extends to the mechanisms that underlie structural birth defects such as craniofacial anomalies, to the anatomical aspects of genetic disease as well as the relationship between evolution and development. Hallgrímsson was awarded the Rohlf Medal for Excellence in Morphometrics in 2015 and is a Fellow of the American Association for the Advancement of Science (2019) as well as the Canadian Academy of Health Sciences (2020).

Dr. François Bernier

Ucalgary

Dr. François Bernier is the director of the Alberta Children’s Hospital Research Institute at the Cumming School of Medicine at Ucalgary. He is a professor in the departments of Medical Genetics and Pediatrics, a medical geneticist at the Alberta Children’s Hospital and the Project Lead of One Child Every Child. He co-authored the One Child Every Child Scientific Strategy and co-leads the One Child Every Child Precision Health and Wellness theme, and Comprehensive Data accelerator.

As chair of the Canadian Rare Disease Network, Bernier is stewarding Canada’s first rare disease cross-disciplinary network, uniting Canada’s leading clinical, scientific and patient expertise to address the challenges faced by children and adults affected by rare diseases. Dr. Bernier is a co-principal investigator for Care for Rare Canada, a research consortium that studies over 1,000 rare disorders. This multifaceted program has established a national genomic data sharing platform (Genomics4RD) for over 1,000 patients.

Dr. Stephen Kingsmore

MB ChB BAO DSc FRCPath

Stephen Kingsmore is President/CEO of Rady Children’s Institute for Genomic Medicine which is implementing pediatric genomic medicine across North America. He is also the David F. Hale Chair at Rady Children’s Hospital, San Diego. Previously he was the Dee Lyons Chair in Genomic Medicine at the University of Missouri-Kansas City, President of the National Center for Genome Resources, Chief Operating Officer of Molecular Staging Inc., Vice President of Research at CuraGen Corporation, and Assistant Professor at the University of Florida. Dr. Kingsmore received BSc, MB, ChB, BAO and DSc degrees from the Queen’s University of Belfast. He did residency in internal medicine and fellowship at Duke University Medical Center. He is a fellow of the Royal College of Pathologists. He was a MedScape Physician of the year in 2012, received the 2013 Scripps Genomic Medicine award, 2013 ILCHUN prize of the Korean Society for Biochemistry and Molecular Biology, and 2022 Precision Medicine World Conference Luminary Award.

TIME magazine ranked his rapid genome diagnosis one of the top 10 medical breakthroughs of 2012. RCIGM has held two Guinness World Records for fastest time to genome-based diagnosis of genetic diseases. RCIGM is developing healthcare delivery solutions for rare genetic diseases of children involving artificial intelligence, cloud technology, telemedicine, and digital health. The initial applications are Rapid Precision Medicine – involving rapid genome-based diagnosis in inpatient children – and BeginNGS – involving genome screening of infant populations to detect and treat rare genetic diseases at or before symptom onset.

Dr. Madhuri Hedge

Revvity

Senior Vice President and Chief Scientific Officer

Dr. Madhuri Hegde, FACMG, is the SVP and Chief Scientific Officer of Revvity, responsible for setting the strategic scientific direction of the Company. As both a medical geneticist and American Board of Medical Genetics and Genomics (ABMGG) certified diplomat in clinical molecular genetics, Madhuri is also the head of Revvity Omics and its global network of laboratories offering innovative, omics-based services in more than 155 countries worldwide.
Madhuri is a passionate and perpetually curious leader whose team is committed to delivering cutting-edge products to Revvity customers, while keeping a close eye on innovation and bringing those developments to market. Madhuri is energized by bringing people and teams together to make a difference and harness science to positively impact human health.
Making the switch from academia to industry in 2016, Madhuri joined Revvity from Emory University in Atlanta, where she served as Executive Director of the Emory Genetics Laboratory and as a professor of human genetics and pediatrics. Before that, she spent several years at the Baylor College of Medicine where she was faculty in the Department of Human Genetics and Director at Baylor Medical Laboratories. She also served several years as a laboratory director at Auckland City Hospital in New Zealand.
Madhuri currently serves on the board and is an officer of the American College of Medical Genetics and Genomics Foundation (ACMGF), and leads the ACMG’s International Outreach and Engagement Committee. She is also a member of the ABMGG Board of Directors, serves on Coriell Cell Repositories NIGMS Human Genetic Cell Repository Scientific Advisory Committee, co-chairs ClinGen’s PTEN committee and is a member of the NHGRI ClinGen Hereditary Cancer Executive Committee. She is an adjunct professor of Pediatrics at Emory University School of Medicine and at Georgia Institute of Technology; has either authored or co-authored over 150 peer-reviewed publications and eight book chapters; and presented well over 100 keynote and other invited presentations at major national and international conferences.
Exposed to science and the field of genetics at an early age, Madhuri’s decision to pursue a career in this field was heavily influenced by academics and other scientists in her family. She was born and raised in India and earned her bachelor’s and master’s degrees in microbiology at the University of Mumbai. Madhuri also holds a PhD in applied biology and genetics from the University of Auckland, and completed her postdoctoral studies and ABMGG certification at Baylor College of Medicine.

Hani Khalaf

Dell Technologies

Hani Khalaf is the CTO for Data and AI Solutions at Dell Technologies, Central and Eastern Europe, Middle East Turkey and Africa (CEEMETA) region. He believes in Data, Artificial Intelligence and Generative AI being key disruptive technologies in driving the digital transformation of businesses and is very passionate about helping organizations utilize data in their digitization journey. He has over 27 years of experience in the field of telecommunications, networking, public safety, AI, Internet of Things and smart cities solutions.

Dr. Essam Abdelalim

Sidra Medicine

Dr. Abdelalim is a Principal Investigator at Sidra Medicine, where he leads the Laboratory of Pluripotent Stem Cell Disease Modeling. His research focuses on understanding the disease mechanisms of diabetes and rare genetic disorders using human pluripotent stem cells (hPSCs) and gene editing technologies. By collaborating closely with clinicians and developing human iPSC-based disease models, his team aims to uncover genetic contributions to these diseases and identify novel therapeutic targets for personalized medicine.

Dr. Abdelalim earned his PhD in Medical Science from Shiga University of Medical Science in Japan, where he subsequently completed a postdoctoral fellowship and became an Assistant Professor. Before joining Sidra Medicine, he served as a Senior Scientist at QBRI until February 2024, during which he established Qatar's first pluripotent stem cell (PSC) program focused on diabetes research. His team successfully generated multiple human iPSC models and developed innovative protocols to enhance the differentiation of stem cells into pancreatic islets, insulin-target cells, and other cell types.

Furthermore, Dr. Abdelalim chaired the HSCI-QBRI Steering Committee Agreement, overseeing collaborative efforts in diabetes and stem cell research between HSCI and QBRI. He is also a member of the editorial boards for "Stem Cells Translational Medicine" and "Stem Cells and Development." With over 75 publications in esteemed scientific journals, he has received numerous research grants and awards. In addition, he holds a joint appointment as an Associate Professor at HBKU, where he teaches the "Stem Cell Biology" course and has mentored more than 15 graduate students.

Muhanad Nabulsi

NVIDIA

Muhannad specializes in Enterprise Artificial Intelligence Solutions, Energy Management, and Digital Transformation, and have helped reshape how businesses in the Middle East and Africa approach growth and development. At NVIDIA, Muhannad is working to supercharge emerging industries like Healthcare, Manufacturing, and Retail with cutting-edge AI solutions. Muhannad truly believes this is an exciting time to take on this challenge as our region witnesses incredible developments and innovation with world class talent at our doorstep.

Marc Domenech

NVIDIA

A seasoned professional currently serving as the Regional Director Enterprise for the META (Middle East, Turkey, and Africa) Region at NVIDIA. In this role, Marc is responsible for driving enterprise sales and business development, particularly focusing on AI initiatives and NVIDIA's technological advancements in the region.

Marc's career is marked by his dedication to fostering innovation and his ability to lead complex technological initiatives. His work at NVIDIA underscores his expertise in enterprise solutions and his strategic vision for the future of AI and technology in the region.

Dr. Mohammad Khan

UDST Qatar

Mohammad Asif KHAN is a Professor and Associate Dean at the College of Computing and IT, University of Doha for Science and Technology, Qatar. He earned his PhD from the National University of Singapore before joining Johns Hopkins University (JHU), USA, as a faculty member. He later became part of a pioneering JHU team to establish a collaboration with Perdana University (PU) in Malaysia, where he served as the Founding Dean of the School of Data Sciences and Founding Director of the Centre for Bioinformatics. Dr. Khan was also a visiting Professor at Bezmialem Vakif University, Istanbul, through Turkey’s “International Fellowship for Outstanding Researchers.” He is currently the President of the Asia-Pacific Bioinformatics Network (APBioNET) and chairs the executive board of the Global Organisation for Bioinformatics Learning, Education, and Training (GOBLET). His research focuses on biological data warehousing and bioinformatics applications in virus study, immune responses, vaccines, drug design, and disease biomarkers.

Dr. James M. Wilson, MD, PhD

GEMMABio

President and CEO, Gemma Biotherapeutics (GEMMABio)
Corporate Affiliations
Founder and Advisor – Scout Bio, Passage Bio, iECURE
Executive Chair, Franklin Biolabs

Having started his work in gene therapy nearly 40 years ago, Dr. Wilson was recruited to the University of Pennsylvania in 1993 and created the first and largest academic-based program in gene therapy. His laboratory discovered a family of viruses from primates called adeno-associated viruses (AAV) that could be engineered to be very effective gene transfer vehicles. These ‘vectors’ have become the technology platform of choice and have set the stage for the recent resurgence of the field of gene therapy.

Dr. Wilson has also been active in facilitating the commercial development of these new gene therapy platforms through the establishment of ten biotechnology companies. His research has been focused on rare inherited diseases, ranging from cystic fibrosis to dyslipidemias to a variety of neurologic disorders and liver metabolic diseases, and on addressing these unmet needs for patients in marginalized populations. To date, his team’s accomplishments include 3 FDA-approved AAV-based gene therapies, approximately 20 active programs currently in development, 95 patents on gene therapy-related technologies, and first-in-patient studies in 15 different diseases.

Dr. Xin Jin

BGI Genomics

Dr. Xin Jin, Deputy Director and Chief Scientist in the field of population genomics at BGI Research, Professor at South China University of Technology. Dr. Jin’s research primarily revolves around the area of big data in genomics, liquid biopsy and precision medicine. He has published over 100 high impact articles in journals including Cell, Nature, and Science. Additionally, He has involved in series of important international scientific projects, including the 1000 Genomes Project, Sino-Danish Diabetes (LUCAMP) Project and Integrating China into the International Consortium for Personalised Medicine (IC2PerMed) Project.

Dr. Geoffrey Ginsburg (TBC)

All of Us

All of Us Research Program
Chief Medical and Scientific Officer

Geoffrey Ginsburg, M.D., Ph.D., is the chief medical and scientific officer of the All of Us Research Program at the National Institutes of Health.He leads the Division of Medical and Scientific Research and is responsible for helping to set the scientific vision and strategy for the program. He also oversees the program’s collection and curation of data, and integration of new data types to support a wide range of impactful scientific discoveries.Prior to joining All of Us, Ginsburg was founding director for the Center for Applied Genomics & Precision Medicine in the Duke University School of Medicine where he pioneered translational genomics and the development of novel diagnostics. At Duke, he was professor of medicine, biostatistics and bioinformatics, pathology, and biomedical engineering. He also was a professor in the School of Nursing; he will remain adjunct professor of medicine. He has held senior leadership roles at Millennium Pharmaceuticals Inc. and was a member of the Harvard Medical School faculty.

Throughout his career, Ginsburg has demonstrated a strong commitment to interdisciplinary science and innovation, with work spanning oncology, infectious diseases, cardiovascular disease, and metabolic disorders. He has held leadership roles in the U.S. and internationally, serving as co-chair of the National Academies’ Roundtable on Genomic and Precision Health, a founding co-chair of the International HundredK+ Cohorts Consortium, and founder and president of the Global Genomic Medicine Collaborative (G2MC), a not-for-profit organization aimed at creating international partnerships to advance the implementation of precision medicine. At NIH, Ginsburg has served on the board of external experts for the National Heart, Lung, Blood Institute, as an advisory council member to the National Human Genome Research Institute and the National Centers for Advancing Translational Sciences, and most recently on the Advisory Committee of the Director of NIH. He received his M.D. and Ph.D. in biophysics from Boston University and completed an internal medicine residency at Beth Israel Hospital in Boston. Subsequently, he pursued postdoctoral training in clinical cardiovascular medicine at Beth Israel Hospital and in molecular biology at Children’s Hospital as a Bugher Foundation Fellow of the American Heart Association.

Dr. Nancy Spinner

CHOP

Nancy Spinner, PhD, FACMG is the Founding Chief of the Division of Genomic Diagnostics at The Children’s Hospital of Philadelphia and a Professor of Pathology and Laboratory Medicine at the Perelman

School of Medicine at the University of Pennsylvania. She first discovered the genes for Alagille syndrome in 1997 (Jagged1), and 2006 (Notch2) and has been working to understand the genetics, genomics and clinical presentation of this disorder since that time. Current work is focused on decreasing the uncertainty in the diagnosis of Alagille syndrome and other disorders caused by Jagged1 mutations using a high throughput functional assay to investigate the pathogenicity of missense variants. She is also focusing on utilization of genomic technologies to continue to improve diagnostics for pediatric disorders, most recently utilizing rapid genome-based sequencing in the neonatal, cardiac, and pediatric intensive units. She has served on the Board of Directors for the American Society of Human Genetics and multiple committees for ASHG and the American College of Medical Genetics and on the Scientific Advisory Board for the Alagille Syndrome Alliance and the Ring chromosome 20 Research and Support organization.

Website: https://www.research.chop.edu/people/nancy-b-spinner

Rick Liang

EVYD Technology

Rick Liang is the President of EVYD Technology, a Singapore-based healthcare technology and AI company with operations in Southeast Asia, Middle East and the USA, with the aim to help health authorities, health care providers, payers, researchers, and life sciences companies unlock the potential of health data to drive better health outcomes at scale through data intelligence.

As President, Rick oversees business functions including commercial, marketing and corporate development, and is responsible for driving company growth both organically and inorganically. Rick comes with 20 years of experience in general management, entrepreneurship, management consulting and venture investment. Previously, Rick was Senior Vice President at a Hong Kong listed leading healthcare technology company responsible for corporate development and managing the business unit for health management. Before that, Rick served as Director of Investment and M&A of Tencent, and Project Leader of the Boston Consulting Group (BCG) , looking after healthcare, TMT, consumer and retail sectors. He also co-founded EasySen, LLC, a US-based tech startup company in the Internet of Things (IOT) space.

Rick obtained a Masters of Electrical Engineering from the University of Notre Dame, USA and Bachelor of Telecom Engineering from Beijing University of Posts and Telecommunications, Beijing, China.

Abhi Verma

SOPHiA GENETICS

Abhimanyu (Abhi) Verma, M.Sc., M.B.A., is a healthcare technology leader experienced in developing capabilities and leading multifunctional organizations to create and accelerate solutions that impact patients and joined SOPHiA GENETICS in February 2022. He has more than 17 years of life sciences industry experience centered on harnessing the intersection of people, science, technology, data & AI serving multiple therapeutic areas and functions across the pharma value chain.
His leadership experience spans creating technology & information strategies; operating models; building teams and products; running operational platforms; and driving organizational and cultural transformation, with a relentless focus on outcomes and execution. Previously at Novartis, Abhi has proven to be a thought leader and execution champion at innovating and scaling data science and technology products, methodologies and approaches.
Passionate about cycling, comics, science fiction, and history, Abhi holds an M.B.A. from the Indian School of Business, a Master of Science in pharmaceutical medicine and is an engineer. He is also co-founder of the nonprofit Health Hacking Lab.

Dr. Amy Ponte

Sanofi

Dr. Ponte is a passionate, forward-thinking health professional with expertise in clinical laboratory science and genomic medicine. A visionary and strategic leader, strengths include clinical diagnostics, implementation science, rare diseases, newborn screening, and public health genomics. Dr. Ponte is currently Director of Global Medical Scientific Affairs and Diagnostics at Sanofi, leading global diagnostic strategy and operations for commercial and pipeline products in rare lysosomal storage and rare blood disorders. She is currently responsible for global diagnostic oversight of rare hematology platforms (Gaucher, ASMD), the Global Rare Disease Specialty Testing Program (RDSTP), and support of North American diagnostic operations. Dr. Ponte also leads Sanofi’s global genetic sequencing and newborn screening and sequencing strategies

Dr. Abdulrahman Al Subaiey

Abdulrahman received his Bachelor of Science degree from Carnegie Mellon University Qatar in Biological Sciences with a minor in Neurosceicnce in 2017. After graduating with Honors, he attended University College London for his Master of Science in Neuroscience where he studied the novel role of oligodendrogenesis in learning in Professor William Richardson’s lab. His doctoral work focused on neuroimmunology and immune dysregulation and he received his Ph.D. from Hamad Bin Khalifa University in 2023. Currently he is based in Dr. Bernice Lo’s immunoregulation labroatory at Sidra Medicine where he is researching novel autoimmune autoantibodies in autoimmune epilepsy in children in Qatar.

Margaret Harr

CHOP

Margaret Harr is the Genetic Counseling Program Manager at the Center for Applied Genomics (CAG) at the Children’s Hospital of Philadelphia (CHOP). As a Genetic Counseling Specialist and Certified Associate in Project Management at the CHOP’s CAG, Margaret Harr has opportunities to work on cutting-edge projects in genomic discovery, translational medicine, and clinical research. The CAG is constantly exploring innovative new ways to integrate the latest technologies with the most advanced medical research; its mission is to develop new and better ways to diagnose and treat children affected by rare and complex medical disorders. The CAG is a specialized Center of Emphasis at the Children’s Hospital of Philadelphia with the primary goal of translating basic research findings to medical innovations. As the lead Genetic Counselor in the newly developed CAG Genomic Counseling Core , Ms. Harr has the privilege to work with some of the top research scientists, medical geneticists, and bioinformatics specialists at CHOP, and around the world. Her current projects include coordination of the CAG return of genetic research results efforts as part of the national eMERGE network (Electronic Medical Records and Genomics), research and development of new testing methodologies and analysis resources, creating online and mobile technology resources for patients to help interpret, share, and educate themselves on genomic test results, exploring the integration of genomic results with the patient electronic health record to advance personalized medicine, and research for gene discover in pediatric craniofacial disorders and multiple congenital anomaly syndromes. Additionally, Ms. Harr’s focus has been on analytical techniques including polygenic risk scores, pharmacogenetic testing, and whole genome sequencing for rare disease and pediatric cancer. She has spent over 15 years working in the fields of clinical and research genetic counseling with an emphasis on improving access to quality genetic testing through innovation and genomic research.

Dr. Rayaz Malik

WCM-Q

Dr. Rayaz Malik is a professor of medicine at Weill Cornell Medicine – Qatar, the organizational official for the Human Research Protection (HRP) Program, and the assistant dean for Clinical Investigations. His research focuses on the pathogenesis, assessment and treatment of diabetic and other peripheral neuropathies and central neurodegenerative disorders. For over 20 years, Dr. Malik has pioneered the use of corneal confocal microscopy, a non-invasive ophthalmic instrument, to quantify diabetic and other peripheral neuropathies and to assess neurodegeneration in patients with multiple sclerosis, Parkinson’s disease, stroke, dementia and autism.

Dr. Malik was appointed as Consultant Physician and Senior Lecturer in 2001 and as Professor of Medicine and Consultant Physician in 2008 in Central Manchester University Teaching Hospitals and the University of Manchester. In 2014, he was appointed as Professor of Medicine at Weill Cornell Medicine and Senior Consultant Physician in Endocrinology and General Internal Medicine at Hamad General Hospital. He remains an honorary Professor of Medicine at the University of Manchester and visiting Professor of Medicine at Manchester Metropolitan University. He was appointed as the Organizational Official in November 2016 and as the Assistant Dean for Clinical Research at Weill Cornell Medicine-Qatar in February 2019. Dr. Malik graduated in Medicine from the University of Aberdeen in 1991, obtained his MRCP (London) in 1996, PhD from the University of Manchester in 1997 and was elected to become a fellow of the Royal College of Physicians in 2007.

Dr. Daniel Ory

Arbor bio

Dan is Chief Medical Officer at Arbor Bio and formerly CMO at Casma Therapeutics, where he led programs for rare genetic diseases. Prior to his work in industry, he was on faculty at Washington University in St. Louis, where his research focused on rare metabolic disease, including lysosomal storage diseases (LSDs). He led multiple clinical trials for LSDs and was scientific co-founder of Vtesse Therapeutics that developed a therapeutic for Niemann-Pick C1, a rare pediatric neurodegenerative disease. Biomarkers he discovered for LSDs are widely used for diagnosis and being piloted for newborn screening. Dr. Ory serves on advisory boards for biotech companies and disease foundations and has been honored as a rare disease champion.

Dr. Markus R. Wenk

HBKU

Dr. Markus Wenk is the Dean College of Health and Life Sciences. He fills other key roles at the moment; he is a Visiting Toh Chin Chye Professor and the National University of Singapore, an Editor-in-Chief, Encyclopaedia in Lipidomics (Springer), and a privatdozent in the faculty of science in the University of Basel.

Wenk has been interested in the structure and function of membranes since his time as a student at the Biozentrum of the University of Basel in 1994. During his time at Yale, he introduced new techniques to study how cells metabolize phospholipids. He's been a leader in using advanced methods to study lipids (lipidomics), earning recognition such as the European Lipid Science Award in 2018. Markus founded the Singapore Lipidomics Incubator (SLING) and the international Singapore Lipid Symposium (iSLS) at the National University of Singapore (NUS), focusing on innovation, education, and collaboration in lipid research. Lately, he's been working on incorporating precise molecular analysis into medical research for personalized health. Prior to his assumption of the role in HBKU, Markus led the Department of Biochemistry at NUS from 2015 to 2022 and also directed the NUS Precision Medicine Translational Research Programme from 2020 to 2

Dr. Khaled Machaca

WCM-Q

Khaled Machaca is Professor of Physiology and Biophysics at Weill Cornell Medicine and serves as the Senior Associate Dean for Research, Innovation and Commercialization for the Qatar campus. In that capacity he oversees the academic, financial, operational and compliance aspects of the research department, which currently encompasses about 200 researchers. Khaled oversaw the establishment of the administrative and regulatory infrastructure; centralized core laboratories; and faculty recruitment since 2009. He also serves as the designated institutional official for the animal research program and as the director of the imaging core. He leads and serves on multiple institutional, national, and international committees. The Machaca Lab is interested in intracellular signaling under physiological and pathological conditions with a focus on calcium signaling. Our goal is to better define signaling pathways at the cellular and molecular levels to identify potential therapeutic targets in various disease states. We are particularly interested in the role of calcium in cancer, metabolic, cardiovascular, and immune disfunction, as well as in oocyte maturation in preparation for fertilization. Work from the Machaca Lab has been published in leading biomedical journals and garnered continuous extramural funding from both the National Institute of Health (NIH) and the Qatar National Research Fund (QNRF). Khaled serves of several editorial boards, reviews widely for scientific journals and granting agencies, and has an extensive track record of training students and postdoctoral fellows.

Dr. Marilyn Li

CHOP

Dr. Marilyn M. Li, M.D. is a Professor of Pathology and Laboratory Medicine, Professor of Pediatrics, Associate Chair for Diversity, Equity, and Inclusion, Vice Chief of the Division of Genomic Diagnostics, Director of Cancer Genomic Diagnostics at Children’s Hospital of Philadelphia, University of Pennsylvania, Perelman School of Medicine. Dr. Li holds the American Board of Medical Genetics and Genomics certification in Clinical Cytogenetics and Clinical Molecular Genetics. She is a fellow of the American College of Medical Genetics (ACMG), Association for Molecular Pathology (AMP), American Society of Human Genetics (ASHG), American Association for Cancer Research (AACR), and American Society of Clinical Oncology (ASCO). She is the Chair of the AMP/ASCO/CAP Somatic Variant Interpretation Standards and Guidelines Working Group, and the co-chair of ClinGen Cancer Variant Interpretation Expert Panel. She also served on the ACMG Professional Practice & Guideline Committee. Dr. Li's primary research interest is the clinical application of advanced and high throughput multi-omics technologies in conjunction with modern bioinformatics tools in cancer research and clinical diagnosis to facilitate precision cancer care. Her group has studied thousands of cancers using multi-omics approaches including custom-designed cancer-specific microarrays, next-generation sequencing panels, and cancer exomes/genome/transcriptome/methylome/circulome sequencing. Their experience demonstrated that these state-of-the-art technologies uncover multi-dimensional alterations in cancer that are essential for cancer diagnosis, risk stratification, therapeutic selection, and prevention. She initiated, organized, and is the first president of the Cancer Genomics Consortium (CGC), an international consortium whose mission is to facilitate the development and utilization of cutting-edge technologies for high-quality, reliable cancer genetic testing in diagnostic laboratories. She is the recipient of the 2010-2011 Luminex/ACMGF Award for the promotion of safe and effective genetic testing and services, the Visionary Leadership Award of CGC in 2019, and the Excellence in Genetics Service Award by the Association of Chinese Geneticists in America in 2021. She has published over 100 peer-reviewed articles and has given more than 100 invited presentations and grand rounds nationally and worldwide. Other research projects in her lab include studies of common leukemia- and lymphoma-associated genetic aberrations in healthy individuals, mosaic overgrowth syndromes, and liquid biopsy in early cancer detection and prevention. She is an active member of the medical school and is involved in teaching medical students and Ph.D. students and training residents and fellows.

Dr. Marina DiStefano

Broad Institute/MIT

Marina DiStefano is a clinical molecular geneticist, associate lab director, and NIH-funded Clinical Genome Resource (ClinGen) Principle Investigator based at the Broad Institute of MIT and Harvard. She is interested in disease research, particularly the elucidation of disease susceptibility genes. She joined Heidi Rehm’s research program at Harvard in 2016, completing her molecular genetics fellowship and working as a postdoctoral fellow on the ClinGen program which is building authoritative resources to define the clinical relevance of genes and variants for use in precision medicine and research. She collaborated to finalize the ClinGen framework, which provides a standardized process for gene curation, in which evidence for or against a gene/disease relationship is systematically scored to establish an overall evidence level for that relationship. With her experience setting gene curation standards, she has helped to lead an international consortium of gene-level resources called the Gene Curation Coalition (GenCC). This group of invested users, including members from open source databases and industry partners, is working to harmonize approaches to ensure gene-level resources are comparable and interoperable. This allows groups to work together most effectively and to provide consistent and useful resources for the community. Through her work leading this group, she has performed a Delphi survey of the genetics community to harmonize terms describing gene-disease evidence levels and has helped to design an open source website that displays curations from all member groups to inform the genetics community and to facilitate discrepancy resolution. Marina also directs the Biocuration Core for ClinGen based at the Broad Institute and sits as a framework expert on at least 15 different gene and variant curation expert panels.

Dr. Erin Riggs

Geisinger

Erin Rooney Riggs, MS, CGC is a genetic counselor and Associate Professor at the Geisinger Autism & Developmental Medicine Institute and the Geisinger Commonwealth School of Medicine. Her research is focused on developing and implementing standards for consistent, transparent gene and variant assessment, as well as facilitating active engagement from the patient community in the process of generating genomic knowledge. She is one of the principal investigators on the National Institutes of Health-funded Clinical Genome Resource (ClinGen), a worldwide effort to define the clinical relevance of genes and variants for use in precision medicine and research. She is currently the co-chair of the ClinGen Gene-Disease Validity and Education, Coordination, and Training working groups, and is leading a collaboration between ClinGen, the American College of Medical Genetics & Genomics (ACMG), the Association for Molecular Pathology (AMP), and the College of American Pathologists (CAP) to update the classification guidelines for constitutional copy number variants. Erin also serves as an editor for Genetics in Medicine Open and is a member of the American Society of Human Genetics Digital Learning Committee.

Dr. Gordon Sanghera

Oxford Nanopore Technologies

Gordon Sanghera is co-founder of Oxford Nanopore with Spike Willcocks and Hagan Bayley. He was appointed CEO in May 2005 and has led the company through multiple finance rounds, and in 2021, a listing on the London Stock Exchange. The company has developed a new generation of nanopore-based sensing technology. The first products enable the real-time, high-performance, accessible and scalable analysis of DNA and RNA, and this new class of sensing has the potential to expand into proteomics and metabolomics.

Fully bespoke manufacturing capability has been built from the ground up, integrating state of the art electronics with silicon fab technology combining the chemistry and biology. The company has been commercially distributing sequencing platforms since 2015, including the handheld and portable MinION and Flongle, and the high-throughput benchtop devices, GridION and PromethION. These platforms are used in more than 100 countries to understand the biology of humans and diseases such as cancer, plants, animals, bacteria, viruses and whole environments.

Dr Sanghera’s PhD in bioelectronic technology was followed by a career at MediSense — an Oxford spin-out that delivered a new generation glucose technology to the market — where he held positions including VP World Wide Marketing, Research Director and Manufacturing Process Development Director. During this time, he was instrumental in the launch of several generations of blood glucose bio-electronic systems for the consumer and hospital medical markets.

Dr. Younes Mokrab

Sidra Medicine

Professor Younes Mokrab is Principal Investigator, Acting Director of Population Genomics Medicine and Lead of Neuroscience Research Program at Sidra Medicine. Also, he is adjunct Professor of Biomedical Sciences at Qatar University. Prof. Mokrab obtained a BSc in Genetics from the University of Sheffield, UK (2003), a PhD in Bioinformatics from Prof. Tom Blundell lab, University of Cambridge, UK (2007), followed by a postdoctoral fellowship from Prof. Mark Sansom Lab, University of Oxford (2010). Next, he moved to the pharmaceutical industry, initially Lonza Biologics performing in silico bio-pharmaceuticals engineering and subsequently Eli Lilly where he led research in early-stage drug discovery in various areas of neuropsychiatry.

Upon joining Sidra in 2015, Dr Mokrab helped establish research programs in population and medical genetics in particular in neurodevelopmental disorders, co-founded the Qatar Genome Program Research Consortium and established links with various international consortia. His lab’s expertise lies in genomics/bioinformatics and data science especially long-read sequencing and multiomics. Over the past decade, his group has sequenced hundreds of genomes for patients and family members across the Middle East, leading gene discovery using state of the art technologies, as well as landmark studies on population structure, genome references and transcriptomics. Prof. Mokrab serves on multiple leadership roles at Sidra and outside and has co-chaired and spoke at multiple national and international conferences. Dr Mokrab is a co-author of > 50 publications in top tier including Nature and Cell journals and is the recipient of multiple grants and awards.

Dr. Ankit Malhotra

AWS

Ankit Malhotra, PhD | Global Genomics and Precision Medicine Lead, AWS Healthcare

Ankit Malhotra, PhD, serves as the Global Genomics and Precision Medicine Lead, Public Sector and Healthcare at Amazon Web Services (AWS). At AWS, Ankit helps healthcare and biomedical research organizations in the public sector integrate genomics into their workloads, helping them accelerate and innovate using the AWS Cloud. With cross training in computer science, molecular biology, and genetics, he has over two decades of experience in the genomics industry.

Former Roles: Biomedical Research Lead, AWS Public Sector, Senior Computational Scientist, and Research Lead, Jackson Laboratory for Genomic Medicine, Farmington, CT

Dr. Carlos Bustamante

Galatea Bio

Dr. Nicola Withers

Illumina

Dr. Nicola has accumulated over 25 years’ experience in the field of clinical laboratory sciences and genomics. She has been employed by Illumina for 8 years and during that time has focused on market development. She is currently leading the market development team and focused on prenatal and genetic disease NGS applications across Asia Pacific, Middle East and Africa with a keen interest in Newborn Screening.

Dr. Nicola also spent over 10 years working in the areas of clinical chemistry, haematology and pathology with a focus on public health screening programs and clinical studies.

Dr. Charles Lee

Jackson Laboratory

Charles Lee, PhD, DSc, FACMG made a revolutionary discovery in 2004 while serving as a member of Harvard Medical School’s faculty: Genes don’t always occur in two copies per cell. This finding uprooted the field of human genetics, leading to new genetic diagnostic tests and a better understanding of human disease and evolution. Lee’s academic impact stretches well beyond this discovery. He has written over 190 scientific publications that have been cited more than 100,000 times. In 2008, Lee became the youngest recipient of the Ho-Am Prize in Medicine. In 2013, he was chosen to be the inaugural scientific director of the Jackson Laboratory for Genomic Medicine. From 2017 to 2023, Lee served as president of the Human Genome Organization; and in 2023, he was inducted as a Fellow of the Korean Academy of Science and Technology. His contributions to the field of human genetics have been recognized by many organizations and institutions including the University of Alberta, Duke University, the Katholic University of Leuven, the American Association for Cancer Research and the American Association for the Advancement of Science. Lee currently holds the Robert Alvine Family Endowed Chair at The Jackson Laboratory.

Dr. Robert Green / The Summit’s Opening Keynote Speaker

BABYSEQ, GENOMES 2 PEOPLE

Professor of Medicine (Genetics)
Mass General Brigham and Harvard Medical School

Robert Green, MD, MPH is a physician-scientist at Mass General Brigham and Professor of Medicine (Genetics) at Harvard Medical School whose work is accelerating the implementation of preventive genomics and precision medicine. He generated early data on the clinical utility and cost-effectiveness of comprehensive genomic sequencing in apparently healthy adults (the MedSeq Project) and newborns (the BabySeq Project). Dr. Green has established the world’s first academically-affiliated, family-oriented Preventive Genomics Clinic in Boston and led the policy development for returning genomic information within the Global Alliance for Genomics and Health, the Verily-Google Baseline Project, and the AllofUs Research Program. In 2016, he co-founded the nationwide telegenetics company Genome Medical and more recently, co-founded the first physician-authorized digital health platform for newborn and childhood sequencing for early detection of treatable genetic conditions - Nurture Genomics.

Contact Information:

EC Alumnae Building, Suite 301, 41 Avenue Louis Pasteur, Boston, MA 02115, USA
(cell) 617-966-3216
(email) rcgreen@bwh.harvard.edu

www.massgeneralbrigham.org/international

Web Links
Genomes2People Research Program
Full text of all our published scientific reports
Worldwide news coverage of our research
Dr. Green’s longer bio and declaration of industry relationships

Social Media Links
Twitter: @robertcgreen, @genomes2people, @francafund
LinkedIn: https://www.linkedin.com/in/robertcgreenmd/
Instagram: @genomes2people, @francafund

Dr. Joanne Hackett

IQVIA

Vice President and Head of Health System Services at IQVIA and previously was the Chief Commercial Officer at Genomics England

Dr Hackett is a clinical academic, entrepreneur, investor, and a strategic, creative visionair with global experience spanning successful start-ups to Fortune 500 companies. Aside from her curious passion for life and positivity, Joanne is known for building innovation, driving personalised medicine and leading through fast paced, complex changing ecosystems and integrations. Joanne's goal is to contribute to bringing the world novel, cost effective and simple health care solutions, and she is particularly keen on building the case for prevention, open science and citizen genomics. She has extensive global experience across academic, business and clinical institutions, and enjoys sharing her experiences with the Boards she sits on as well as companies she provides strategic advice to.

Joanne has been publicly recognised for her relentless pursuit of revolutionising healthcare and has been named one of the top six Influential Leaders in Healthcare by CIO Look, the Accenture Life Science Leader of the year, Freshfields Top 100 Most Influential Women, One HealthTech Top 70 Women in the NHS, Pharmaceutical Market Europe’s 30 women leaders in UK healthcare and BioBeat Top 50 Women in Biotech Award. Joanne believes in human courage and perseverance against the odds, and demonstrates that positive change, whether in a company or in one’s personal life, can be carved out from even the greatest of trials. As a believer of ‘health = wealth’, Joanne is an internationally known yoga instructor.

Dr. Tan Ee Shien

SingHealth

Clin A/Prof Tan Ee Shien is the Head of SingHealth-Duke Genomic Medicine Centre and the Head of Service and Senior Consultant for Genetics Service in KK Women’s and Children’s Hospital. She is also currently the Genomics Co-Lead, SingHealth Duke-NUS Maternal and Child Health Research Institute. She is the Deputy Chief Medical Officer of the national precision medicine program, PRECISE. She started her training in Paediatrics in KK Women’s and Children’s Hospital in 2000 and obtained her MRCPCH in 2002. She then pursued her interest in genetics and was awarded the Health Manpower Development Plan fellowship in 2005. Her passion is to ensure that all patients with genetic diseases have access to the best care available.
She was also the Director of the National Newborn Screening Program in Singapore from 2011 till 2023. In this role, she has spearheaded the expansion of the repertoire of disorders tested during the newborn period.
Clin A/Prof Tan is actively involved in education and was the Paediatric clerkship director for the Duke NUS Graduate Medical School. She is a clinical associate professor in Duke GMS and YLL SOM and is a strong believer in mentoring the next generation.
She was also awarded Clinician Scientist Award 2009-2011 and is still involved in many research projects within the Genetics Service.

Dr. Matthias Von Herrath

Novo Nordisk®

Dr. Matthias von Herrath, MD, is a distinguished physician-scientist with a remarkable reputation in immunology and drug development for type 1 diabetes. He has a strong background in academic medical research and the pharmaceutical industry, particularly in clinical translation of immune-based interventions for autoimmune and metabolic diseases.

Currently, Dr. von Herrath is the Scientific Director of the Diabetes Research Institute (DRI), University of Miami School of Medicine. In this role, he spearheads innovative research aimed at delaying, preventing, and ultimately curing type 1 diabetes, leading a team dedicated to advancing scientific discoveries. Additionally, he serves as Vice President and Senior Medical Officer at Novo Nordisk, a major global healthcare company, where he contributes his extensive industry knowledge to the development of new therapies, focusing on their safety and efficacy.

Dr. von Herrath's career is highlighted by significant contributions to immunology and drug development, effectively bridging the gap between academia and the pharmaceutical industry. He has been involved with the organ donor network (nPOD) for a long time, focusing on understanding T1D pathology. His work has been recognized with numerous awards, including the American Diabetes Association’s Outstanding Scientific Achievement Award in 2008, the German Diabetes Society’s Langerhans Award in 2014, and a lifetime achievement award from nPOD in 2018. These accolades underscore his impact on the field and dedication to improving the lives of those with type 1 diabetes.

Dr. Robert Green

BabySeq

Professor of Medicine (Genetics)
Mass General Brigham and Harvard Medical School

Robert Green, MD, MPH is a physician-scientist and Professor of Medicine (Genetics) at Harvard Medical School whose work is accelerating the implementation of preventive genomics and precision medicine. He generated early data on the clinical utility and cost-effectiveness of comprehensive genomic sequencing in apparently healthy adults (the MedSeq Project) and newborns (the BabySeq Project). Dr. Green has established the world’s first academically-affiliated, family-oriented Preventive Genomics Clinic in Boston and led the policy development for returning genomic information within the Global Alliance for Genomics and Health, the Verily-Google Baseline Project, and the AllofUs Research Program. In 2016, he co-founded the nationwide telegenetics company Genome Medical and more recently, co-founded the first physician-authorized digital health platform for newborn and childhood sequencing for early detection of treatable genetic conditions - Nurture Genomics.

Contact Information:

EC Alumnae Building, Suite 301, 41 Avenue Louis Pasteur, Boston, MA 02115, USA
(cell) 617-966-3216
(email) rcgreen@bwh.harvard.edu

Web Links
Genomes2People Research Program
Full text of all our published scientific reports
Worldwide news coverage of our research
Dr. Green’s longer bio and declaration of industry relationships

Social Media Links
Twitter: @robertcgreen, @genomes2people, @francafund
LinkedIn: https://www.linkedin.com/in/robertcgreenmd/
Instagram: @genomes2people, @francafund

Dr. Zornitza Stark

Australian Genomics

Professor Zornitza Stark is a clinical geneticist at the Victorian Clinical Genetics Services and Clinical Lead, Australian Genomics. She completed her medical studies at the University of Oxford, before training in paediatrics at the Royal Children’s Hospital in Melbourne, and in clinical genetics at VCGS. Zornitza is passionate about the integration of genomic testing into healthcare, particularly as a first-tier test for rare disease diagnosis in children. Since 2014, she has played a leadership role in numerous projects through Melbourne Genomics and Australian Genomics, as well as the Genomics Health Futures Mission, all aimed at accelerating rare disease diagnosis. She has co-authored over 220 papers, and has attracted over $60M in grant funding as investigator.

Dr. Said Ismail

QPHI

Chief Scientific and Operations Officer, QPHI

Dr. Said Ismail holds a Ph.D. from the University of Oxford and an MSc from University College London (UCL). His experience extends over 25 years and involves research, education, clinical diagnostics, consultancy and management, including work at the Ludwig Institute for Cancer Research at UCL/UK, advisory roles at regional and international pharma/biotech companies, and a professor and director at the University of Jordan Medical School and the Clinical Genetic Diagnostics Laboratory at the University Hospital.
In 2015, Dr. Ismail Joined Qatar Foundation as the first full-time employee of the Qatar Genome Project and helped build a team and see the project grow into one of the largest population genomics initiatives in the region shedding light on the genetic makeup of Qataris as well as over 400 million genomically underrepresented Arabs.
Said also holds the position of an adjunct professor at both the Hamad Ben Khalifa University and Qatar University and is a board member at the Shoman Research Fund as well as the Transplant Immunology Research Centre of Excellence (TIREX) at Koç University, Istanbul/Turkey. He is also the first president and co-founder of the International Society on Aptamer Nanotechnology and an editorial board member in multiple international journals.
Dr. Ismail won several awards including the Said Foundation prize for young Arab researchers in the UK in 2001, the Ali Mango Award for distinguished Jordanian researchers in 2012 and the Shoman award for Arab researchers in biomedical sciences in 2013.
Dr. Ismail has special interest in promoting research among young Arab students. He launched one of the largest efforts to enhance the Arabic medical and scientific content on the internet; The “Bel-Arabi” initiative (http://www.bel-arabi.com) and he is also a Board member of the Phi Science Institute, which aims to encourage research among Arab youth (https://www.f6s.com/phiscienceinstitute).

Dr. Samih Alqawlaq

Illumina

Samih Alqawlaq is a Senior Clinical Sales Specialist at Illumina Middle East, with five years of experience in the Emerging Markets. He is a passionate genomics educator and an advocate for improved patient access to precision diagnostics.

Samih has a solid scientific background and a track record in precision genomics sales and market development. Serving in the Middle East, Pakistan and Africa, Samih supports a broad range of applications, including Oncology, Rare Disease, and Infectious Disease

Prior to joining Illumina, Samih worked at QIAGEN as a Genomics Field Applications Specialist. In this role, he became experienced in the hands-on aspects of NGS- and PCR-based assays.. During the COVID-19 pandemic, he worked with numerous public health units across MEA to set up NGS-based surveillance programs.

Samih completed his PhD at the University of Toronto, Faculty of Medicine, in the department of Laboratory Medicine and Pathobiology. He also completed a master’s degree at the University of Waterloo, School of Pharmacy, with a focus on gene therapy and nanotechnology.

When he is not traveling to speak with customers, Samih mentors graduate students from his alma mater. He believes that professionals should give back to their community and promote an environment of mentorship and collaboration.

Dr. Edison Liu

Jackson Laboratory

Edison Liu, M.D. is professor and special fellow of The Jackson Laboratory (JAX), an independent research institute focused on complex genetics and functional genomics situated in Maine, Connecticut, and California. Previously, he was president and CEO of The Jackson Laboratory, and Director of its NCI designated Cancer Center. Before that, he was the founding executive director of the Genome Institute of Singapore, the president of the Human Genome Organization (HUGO), the scientific director of the National Cancer Institute's Division of Clinical Sciences in Bethesda, Md., and professor of medicine, genetics, biochemistry, and epidemiology at the University of North Carolina, Chapel Hill. Dr. Liu is an international expert in cancer biology, systems genomics, human genetics, molecular epidemiology and translational medicine with a focus on human breast cancer. He has authored over 340 scientific papers, reviews and books, and is a frequent commentator on the impact of technologies in the biosciences and medicine. He obtained his B.S. in chemistry and psychology, as well as his M.D., at Stanford University; his advanced training in medicine and oncology at Washington University, St. Louis, and Stanford, and post-doctoral training in molecular oncology at the University of California at San Francisco. Dr. Liu has received numerous awards, and is an elected member to the American Society of Clinical Investigation, a foreign member of the European Molecular Biology Organization, and a Fellow of the American Association for the Advancement of Science (AAAS).

Dr. Mitchell Stotland

Sidra Medicine

Dr. Mitchell Stotland is Vice Chair, Department of Surgery, Division Chief of Plastic and Craniofacial Surgery, and Medical Director, Perioperative Services at Sidra Medicine in Doha, Qatar. Completed medical school and plastic surgery residency at McGill School of Medicine in Montreal, Canada (1989), and craniofacial surgery fellowship at the University of California, Los Angeles (1997). Practiced at Dartmouth Hitchcock Medical Center and the Children’s Hospital at Dartmouth (1997-2014), founding a multidisciplinary craniofacial anomalies program in 2000. 2007, obtained Master of Science degree in Evaluative Clinical Sciences from the renowned Dartmouth Institute. 2007, founded the Tanzer Plastic Surgery Symposium.

2014, became founding division chief of Plastic and Craniofacial Surgery at Sidra Medicine, appointed Associate Professor of Clinical Surgery at Weill Cornell Medical College – Qatar; 2019 as Medical Director, Perioperative Services, and 2021 as Vice Chair, Department of Surgery, Sidra Medicine. Has introduced a variety of new and complex plastic surgical procedures – and a multidisciplinary approach to craniofacial care – to Qatar. May 2023, founded and chaired the Inaugural “Artificial Intelligence and Medicine – Bringing Digital Breakthroughs to the Bedside” symposium at Sidra Medicine.

Area of clinical interest includes cleft lip/cleft palate, isolated and syndromic forms of craniosynostosis, facial trauma, and total ear reconstruction. Basic science research focuses on the assessment and measurement of facial deformity including through the development of novel machine learning models (lead PI on QRDI grant 2021-2024). June-September 2023 Dr. Stotland completed the MIT Professional Education course entitled “No Code AI and Machine Learning. Building Data Science Systems”.

Dr. Paul Franks

Lund University

Paul W. Franks PhD MPhil MS FTOS is Professor of Genetic Epidemiology at Lund University, Sweden and an Adjunct Professor at the Harvard School of Public Health, Boston, MA. Paul trained at the University of Cambridge and the NIH in human metabolism and cardiovascular physiology, as well as classical biostatistics and genetic epidemiology. He was head of the Novo Nordisk Foundation Department of Translational Medicine (2021-2024) and Deputy Director of the Lund University Diabetes Center (2016-2021). He currently co-chairs the ADA/EASD Precision Medicine in Diabetes Initiative and the NIDDK Heterogeneity of Diabetes Initiative. His research uses multimodal AI to explore interactions among human biological variation, lifestyle, and medications to develop precision prediction and diagnostic subclassification models. Paul has spearheaded the development of consensus standards, guidelines, and translational frameworks for precision medicine that are now globally adopted by leading institutions.

Dr. Emanuele Bosi

TrialNet Network

He is a physician scientist and Professor of Endocrinology at Università Vita-Salute San Raffaele. He serves as Head of the General Medicine, Diabetes, and Endocrinology Department, and Director of both the Diabetes Research Institute and the Post-Graduate School of Endocrinology at Ospedale San Raffaele. Bosi graduated in Medicine from the University of Milan, where he also specialized in diabetes, metabolic diseases, and clinical immunology. His research focuses on diabetes prediction, prevention, and new treatments, including technologies for blood glucose monitoring. He leads the TrialNet Clinical Center at San Raffaele, part of an NIH-funded network conducting trials in type 1 diabetes. Bosi is a member of several scientific societies, an editorial board member for various journals, and a scientific advisor to numerous pharmaceutical and biotech companies. He has published over 150 scientific papers.

Dr. Peter Goodhand

GA4GH

Chief Executive Officer, Global Alliance for Genomics and Health, President, GA4GH Inc. Toronto, Canada

Peter Goodhand is a leader in the global health sector, holding senior executive and board member positions in the health research advancement community.

He currently serves as the Chief Executive Officer of the Global Alliance for Genomics and Health (GA4GH) and President of GA4GH Inc. The Global Alliance for Genomics and Health (GA4GH) is a policy-framing and technical standards-setting organization, seeking to enable responsible genomic data sharing within a human rights framework. GA4GH Inc. is a non-profit corporation based in Canada that supports the long-term work of the broad-based Alliance.

Mr. Goodhand previously served as President of the Ontario Institute for Cancer Research (OICR) and President and CEO of the Canadian Cancer Society. Before joining the charitable sector, he had a 20-year career in the global medical technology industry.

Mr. Goodhand is currently Co-Chair of the International Health Cohort Consortium (IHCC) and serves on the governance boards of Global Genes and several national and international advisory bodies.

Dr. Hakon Hakonarson

CHOP

Director, Center for Applied Genomics

Dr. Hakonarson is director of the Center for Applied Genomics and professor of Pediatrics at the Perelman School of Medicine, University of Pennsylvania. He leads a $40 million commitment from Children’s Hospital of Philadelphia to genomically characterize approximately 100,000 children, an initiative that has gained nationwide attention in the Wall Street Journal, New York Times, Time Magazine, Nature, and Science.

Dr. Camillo Ricordi

Uni. Of Miami

Camillo Ricordi, M.D. is Professor of Surgery, Medicine, Biomedical Engineering, Microbiology and Immunology at the University of Miami, Florida, where he serves as Director of the Cell Transplant Center and Director Emeritus of the Diabetes Research Institute

Ricordi has received numerous honors and awards, including the World Prize in Surgery (University of Geneva), the Outstanding Scientific Achievement Award by the American Diabetes Association, was Knighted by the President of the Republic of Italy. He was inducted into the National Academy of Inventors USA, for contributing outstanding inventions that have made a tangible impact on quality of life, economic development, and welfare of society, and was appointed to the Supreme Council of Health (Consiglio Superiore di Sanita’) by the Ministry of Health of Italy. In 2023, he was awarded the Leonardo Da Vinci Award (co-shared with Nobel Prize winners Yamanaka and Semenza - Taormina TaoBuk) and the Venice Golden Lion Award.

Ricordi contributed over 1,170 publications, that received over 54,000 citations, has 114 H-index.

In 2022 he published the best-seller book “IL CODICE DELLA LONGEVITÀ SANA” now available also in its English edition: “THE HEALTHSPAN CODE” (Amazon.com).

Farhan Naim

Farhan read Human Biology at King’s College London, graduating with a BSc honors degree in 2001. Upon graduation, he joined the phase I clinical research organization industry, holding multiple Clinical Trial Associate posts including at the world’s largest CRO, IQVIA. Having gained a solid foundation in the principles of clinical trial conduct, management, regulation and delivery, he crossed over into the English National Health Service as Oncology Clinical Trials Practitioner at the Imperial College Healthcare NHS trust in 2003. Here he worked alongside world-renowned investigators, supporting the delivery of late-phase clinical trials in breast, lung, colorectal and urological cancers. In 2010, Farhan was appointed as Oncology Clinical Trials Portfolio Manager at the Royal Free London NHS Foundation Trust, one of the leading academic health centers in the UK. He obtained an MSc in Clinical Oncology at the University of Birmingham in 2011 with a thesis entitled ‘Breast cancer patient perceptions in undergoing additional biopsies for research’. Remaining at the Royal Free, Farhan was subsequently appointed as Deputy Director of Research and Development in 2013 and then as Director of Research and Development in 2018 where he led the organization’s clinical research agenda, setting strategy and overseeing operations. Highlights of his tenure here include the development of a £5M NIHR funded clinical research facility, propelling the organization into a national top-10 spot for patients recruited into clinical trials and leading the development and execution of a highly acclaimed 5-year clinical research strategy. Farhan relocated to Doha in February 2024 and is currently heading the research PMO at Sidra Medicine.

LinkedIn: https://www.linkedin.com/in/farhan1978/

Dr. Manuela Battaglia

INNODIA iVZW

Managing Director of the INNODIA iVZW

Dr. Battaglia is an immunologist by training and became a scientist to transform patients’ lives. She spent 20 productive years in academic research focused on understanding the pathogenesis of type 1 diabetes.

When she was Vice-Director of the San Raffaele Diabetes Research Institute in Milano (Italy), she decided to enter into a different path to reach a higher impact on patients and society. She then spent the following 4 years in leading managerial positions in international organizations focused on reducing the waste of talent, research, and funds in the biomedical field for the benefit of patients.
She will now capitalize on her scientific and managerial competencies to take INNODIA to the next level and reach its ultimate goal: tackling type 1 diabetes.

Prof. Khalid Fakhro

Sidra Medicine

Prof. Khalid Fakhro / Chair Khalid Fakhro is the Chief of Research and Director of the Precision Medicine Program at Sidra Medicine, the largest tertiary care women and children hospital in Qatar. Prof. Khalid Fakhro / ChairFakhro leads the Laboratory of Genomic Medicine, which focuses on bringing emerging genomic technologies from the lab close to the patient’s bedside. Over the past decade, his group has sequenced thousands of genomes from patients and volunteers across the Middle East, leading gene discovery efforts for a wide range of rare disorders, as well as landmark studies on population structure, genome structural variation, and the role of Islamic ethics in genome research. To date, his lab has been awarded competitive grants exceeding $7m to study genome structure and the genetic etiology of rare diseases and Autism, and their discoveries have featured in high-impact journals worldwide. In addition to research and hospital duties, Prof. Khalid Fakhro / Chair Fakhro serves multiple leadership roles in Qatar’s growing biomedical ecosystem, including as a Board Member of the Qatar Precision Medicine Institute, and Adjunct Faculty at both Weill-Cornell Medical College and Hamad Bin Khalifa University, where he teaches and supervises Masters and Ph.D. students in genomics and precision medicine.

Dr. Wan Yue

A* STAR Institute

Yue Wan is the Deputy Executive Director of the Genome Institute of Singapore, A*STAR. She received her B.Sc in Cell Biology and Biochemistry from the University of California, San Diego. She obtained her Ph.D. in Cancer Biology from Stanford University, USA, under the mentorship of Howard Y. Chang. During her Ph.D., she developed the first high-throughput method for probing RNA structures genome-wide. Yue is a recipient of the NSS-PhD scholarship from Agency for Science, Technology, and Research (A*STAR) in Singapore. She was a Society in Science- Branco Weiss Fellow, EMBO Young Investigator, and CIFAR-Azrieli Global Scholar. Yue is also a recipient of the Young Scientist Award and L’Oreal-UNESCO for Women in Science, Singapore National Fellowship. Recently, Yue is also a participant of the international Welcome Leap RNA Readiness and Response program. Yue is interested in studying functional RNA structures and developing new versions of RNA as vaccines and therapeutics.

Dr. Hamdi Mbarek

QPHI

Dr. Radja Badji

Haris Shahid

Dr. Raghib Ali

Our Future Health

Professor Raghib Ali is the CEO, Chief Investigator and Chief Medical Officer of Our Future Health; a Clinical Epidemiologist at the University of Cambridge; a Consultant in Acute Medicine at the Oxford University Hospitals NHS Trust; and Honorary Consultant with the Office for Health Disparities and Improvement.

He graduated from Cambridge University and has been awarded postgraduate degrees in Epidemiology and Public Health from the Universities of London, Cambridge and Oxford and is a Fellow of the Royal College of Physicians. He has been involved in population health research since 2004 nationally and globally, working firstly on UK Biobank, then leading studies of cancer incidence by ethnic group in England and India from 2005 to 2013 and established the UAE Healthy Future Study, in 2014, for which he is the principal investigator.

He was awarded an OBE in the Queen’s Birthdays Honours 2022 for services to the NHS and the Covid-19 response and elected as an Honorary Fellow of the Faculty of Public Health, ‘the highest accolade the Faculty can bestow and is awarded to those who have given exceptional service to the science, literature or practice of public health’ in April 2023.

Dr. Haydar Frangoul

Tristar Cent. Children's H.

Dr. Haydar Frangoul, MD, MS. is the Director of the Pediatric Stem Cell Transplant program at the Sarah Cannon Research Institute and Tristar Centennial Children's Hospital and in Nashville Tennessee. Dr Frangoul completed his MD degree at the American University of Beirut followed by Pediatric residency at Duke University. He then went to complete a fellowship in Pediatric Hematology/Oncology and Stem Cell Transplant at the University of Washington and the Fred Hutchinson Cancer Center. He was the Carolyn Perot Rathjen Endowed Professor of Pediatric Hematology/Oncology at Vanderbilt University until 2015 when he joined Sarah Cannon Research Institute to lead the Pediatric Stem Cell Transplant Program.

Dr Frangoul had leadership positions in the Children Oncology group, and Pediatric Blood and Marrow Transplant Consortium. His primary interest is allogeneic stem cell transplant using an alternative donor sources especially for non-malignant diseases. Dr Frangoul has authored or co-authored more than 140 peer reviewed manuscripts. He has been an invited speaker at numerous national and international conferences. He is the lead investigator for the clinical trial using CRISPR-Cas9 gene editing for patients with sickle cell disease.

Dr. Medhat Askar

Qatar University

Medhat Askar, MD, PhD, MSHPE, FRCPath, F(ACHI), D(ABMLI), HCLD(ABB) is the Associate Vice President for Clinical Affairs and Professor of Immunology at the College of Medicine at Qatar University. He also serves as the Division Head of Clinical Immunology at the Department of Laboratory Medicine and Pathology at Hamad Medical Corporation, Doha, Qatar, a Clinical Professor in the Department of Medical Education at Texas A&M Health Science Center College of Medicine, Bryan, TX and the Advisor for the Clinical Services at The National Marrow Donor Program, Minneapolis, MN. Before Joining Qatar University he served as the Director of Transplant and Genomics Core, COVID-19 Testing and Stem Cell Processing Laboratories at Baylor University Medical Center, Dallas, TX and Clinical Consultant in the Department of Laboratory Medicine of Memorial Sloan Kettering Cancer Center, New York, NY.

Currently Dr. Askar is the Treasurer of The Transplantation Society (TTS); Treasurer of The Association of Medical Laboratory Immunologists (AMLI); Board Member of the Worldwide Network for Blood & Marrow Transplantation; Councilor of the International HLA & Immunogenetics Workshops; Chair of the Histocompatibility Committee of the Foundation for Accreditation on Cellular Therapy (FACT) and member of the Laboratory Practice Committee of the International Society of Cell and Gene Therapy (ISCT). Previously he served as President of The American Society for Histocompatibility and Immunogenetics (ASHI); President of The American College of the Histocompatibility and Immunogenetics (ACHI), a member of the Board of Directors and the Executive Committee of the United States United Network for Organ Sharing (UNOS), and a Board Member of The Arab Society of Histocompatibility & Immunogenetics (ARSHI). I published and lectured on various topics of transplant Immunology, cell and gene therapy, quality systems and accreditation, health professions education and leadership in major transplant conferences and leading academic institutions across 6 continents.

Dr. Ian Pople

Dr. Ian Pople is a graduate of Sheffield University, UK and did his neurosurgical training in Leeds, Great Ormond Street Hospital in London, Bristol and Memphis USA where he did his fellowship in Pediatric Neurosurgery at Le Bonheur Children’s Hospital and St Jude Children’s Research Hospital.

Prior to joining Sidra Medicine as the Chief of Neurosurgery, Dr. Pople was Senior Pediatric Neurosurgeon at Bristol Royal Hospital for Children, UK, where he led the development of the Epilepsy Surgery and SDR services for Children and performed over 2000 pediatric neurosurgical procedures. For the first 20 years of his career he was a consultant neurosurgeon at Frenchay Hospital in Bristol dealing with over 500 cases a year including all types and head and spinal trauma.

Dr Ian has a specialist interest in complex hydrocephalus, neuro-endoscopy, epilepsy and brain tumors. Throughout his career as a neurosurgeon he has maintained a strong interest in clinical research with over 70 publications to date and serving on the Executive Commottee of the Society for Research into Hydrocephalus and Spina Bifida for 20 years. He has been leading projects into new treatments for hydrocephalus in premature infants in the UK and more recently at Sidra Medicine in Qatar, where he was awarded a Research Grant.

Dr. Maha Meer

Maha Meer is a passionate genetic enthusiast with a lifelong curiosity for unravelling the mysteries encoded within our DNA. She holds a Masters of Science in Genetics and a Bachelor of science degree in Zoology, and is currently working as an extern at Sidra Medicine within the Department of Human Population genetics focused on Precision prevention diabetes, obesity and cancer.

Dr. Karolina Kobus

Dr. Kobus is a molecular geneticist with over 15 years of expertise spanning molecular biology, reproductive genetics, prenatal diagnostics, oncogenetics, and pharmacogenetics. Currently, she serves as an active Precision Genomics consultant, spearheading the establishment of innovative genetic services and advocating for awareness and preventive strategies. She champions the concept of conducting highly specialized testing locally in the Middle East, aiming not only to enhance outcomes, optimize healthcare efficiency, and generate cost savings but also to foster the development of local talents.

Dr. Kobus has previously held positions at esteemed governmental institutions including the Max Planck Institute for Molecular Genetics and the Human Genetic Department at Charite University Hospital in Germany, as well as the National Genetic Centre at the Ministry of Health in Oman. In these roles, she conducted comprehensive data analysis and interpretation for genetic cases utilizing cutting-edge technologies such as Array CGH, Whole Exome Sequencing, and Clinical Genomics.

Additionally, Dr. Kobus actively assists healthcare systems in promoting themselves through scientific conferences and educational series.

Rulan Shaath

Rulan is committed to advancing community healthcare through precision medicine, with a keen focus on molecular-level disease identification using a multi-omics approach, particularly in genomics and metabolomics. Her aim is to uncover disease mechanisms and translate findings into clinical applications. Graduating with honors from the M.H.Sc program in Medical Genomics at the University of Toronto, she honed her expertise in this dynamic and rapidly evolving field.

Dr. Sahar Da’as

Dr. Da'as is a distinguished Research Manager at Sidra Medicine. Dr. Da'as has pioneered innovative approaches using the zebrafish model in functional genomics translational research, focusing on rare pediatric hereditary diseases. She has successfully developed patient-specific genotype models, providing a comprehensive insight into gene variation, clinical presentations, and disease prognosis. These achievements promise a roadmap toward precision medicine and underscore her dedication to advancing healthcare through cutting-edge research.

Her journey in research began at the IWK Health Centre, Canada, where she focused on rare genetic disorders and childhood cancers, earning an Innovation Excellence Award from Cancer Care Nova Scotia.

Dr Da'as, through collaborative projects, continues to translate scientific discoveries into practical applications, providing a foundation for translational studies of novel genes and novel variants.

Her impactful work, published in reputable journals, has significantly advanced our understanding of hereditary diseases.

Alanoud Abdulla

Alanoud Abdulla holds the position of Research Specialist 1 at Sidra Medicine within the Department of Human Genetics, focusing on Precision Medicine in Diabetes, Obesity, and Cancer. Alanoud earned a Bachelor of Science degree in Biological Sciences from Carnegie Mellon University in 2021.

Dr. Ammira Akil

Chair

Prof. Khalid Fakhro

Dr. Arash Rafii

Arash Rafii is a Professor of OB-GYN and Genetic Medicine. His work mainly focused on women cancer and predictive medicine. After 15 years at Weill Cornell Medicine he founded ScieNFT an open source platform for sharing science assets. He has published more than 120 studies and is the founder of the french society of predictive medicine as well as on the board of the french society for gynécologie oncology. His current research and clinical practice focuses on cancer care and overall women well-being.

Dr. Samir Gupta

Samir Gupta is a Professor of Neonatology at Durham University, UK, and a Fellow at the National Perinatal Epidemiology Unit, Oxford University, United Kingdom. He is the Division Chief of Neonatology, a Quaternary Care neonatal unit at Sidra Medicine (Children’s Hospital), Qatar.

He is a Fellow of Royal College of Pediatrics and Child Health and Fellow of Royal College of Physicians of Ireland. He is member of European steering group of the Neonatologist performed echocardiography (NPE). He is founder and chair of the Neonatologist with interest in Cardiology & Hemodynamics in the UK and has now successfully established Qatar NPE training program at Sidra Medicine in Doha, Qatar.
He is a member of several scientific organizations, including the European Society for Pediatric Research (ESPR) and Society for Pediatric Research (USA). He has authored over 150 articles in indexed peer reviewed journals and books. He has been invited guest editor high impact journals.

He is Chief investigator of Baby-OSCAR trial on patent ductus arteriosus (PDA), (https://www.npeu.ox.ac.uk/baby-oscar). He established 1st global Annual international neonatal cardiology & hemodynamics conference in UK in 2010, which is successfully running to date (www.neonatalcardiology.co.uk)

He has established Neonatal hemodynamics program at Sidra Medicine with a team of clinicians, that has significantly improved neonatal outcomes in surgical, complex and sick newborn infants. He works collaboratively with Pediatric cardiology and fetal medicine division to improve the care of complex cardiac patients admitted to the NICU. Currently, he is working to set up the ‘Cardiac ICU on NICU’’ and expanding the NPE training program internationally. He also advises on various international forums on cardio-respiratory disorders and management and is international expert in this field.

Dr. Chantal Mathieu

EASD

Professor of Medicine at the Katholieke Universiteit and Chair of Endocrinology at the University Hospital Gasthuisberg Leuven, Belgium

Chantal Mathieu is a physician-scientist who has contributed to the field of diabetes and endocrinology through basic and clinical research. Her basic research work focuses on pathogenesis and prevention of type 1 diabetes. Prof. Mathieu’s clinical work involving new products and treatment paradigms in diabetes, such as new insulins, adjunct therapies and diagnosis of gestational diabetes have made her a speaker in international fora. Prof. Mathieu coordinates the European clinical trial network for interventions in type 1 diabetes ‘INNODIA’ and the European project ‘EDENT1FI’ on screening for type 1 diabetes. Prof. Mathieu is president of EASD and vice-president of the European Diabetes Forum.

Dr. Sonia Davila

Dr. Sonia Davila is the Executive Director of Translational Medicine at Sidra Medicine since December 2023. Prior to joining Sidra, Dr Davila was Deputy Director of the SingHealth Duke-NUS Institute of Precision Medicine (PRISM) in addition to Director of Research at the SingHealth Duke-NUS Genomic Medicine Centre, where she worked on advancing gene discovery through genomic approaches, as well as clinical implementation of precision medicine. Dr Davila is a seasoned genomic medicine expert who is committed to advance genomic medicine as a clinical tool capable of benefitting patients across the globe—no matter how rare their disease.

Dr. Tawfeg Ben Omran

Dr. BEN-OMRAN is a senior consultant and Division Chief, Genetic and Genomic Medicine at Sidra Medicine and Hamad Medical Corporation. He is a Professor at Weill Cornell Medical College, Qatar & New York-USA. He is also a Distinguished Visiting Scientist at Boston Children’s Hospital-USA.

He contributes to the body of published knowledge in clinical and metabolic genetics, with over 200 published articles in peer reviewed journals, book chapters and abstracts. He is reviewer for many clinical genetics journals.

He is an active clinical researcher, collaborating on projects with local, regional & international communities. He is a lead primary investigator in many high profile research projects & clinical trials.

Dr. Essam Abdelalim

Dr. Abdelalim holds the position of Senior Scientist at QBRI and serves as an Associate Professor at HBKU. His academic journey includes obtaining a PhD in Medical Science from Shiga University of Medical Science in Japan, followed by a role as an Assistant Professor at the same institution.
Since March 2014, Dr. Abdelalim has been instrumental in establishing Qatar's pioneering pluripotent stem cell program at QBRI, with a primary focus on diabetes research. His research endeavors utilize human pluripotent stem cells to decipher the mechanisms behind diabetes development while striving to produce functional pancreatic cells for prospective therapeutic applications. His team has successfully generated over 100 iPSC lines sourced from a diverse pool of patients with both monogenic and polygenic forms of diabetes. Furthermore, they have innovated novel methodologies for differentiating stem cells into insulin-secreting and insulin-target cells.

Dr. Abdelalim chairs the Steering Committee of the Harvard Stem Cell Institute (HSCI)-QBRI Agreement, overseeing the collaborative diabetes/stem cell program between HSCI and QBRI. He also serves on the editorial boards of esteemed journals like "Stem Cells and Development" and "Frontiers in Endocrinology." He has authored over 70 articles in reputable scientific journals. Dr. Abdelalim's career is marked by numerous research grants and prestigious awards. In addition, as an educator, he teaches the "Stem Cell Biology" course at HBKU. He has mentored 15 graduate students at HBKU, contributing significantly to their international recognition for outstanding work.

Dr. Mohammad Karim

Chief, Division of Hematology/Immunology/Transfusion, at Sidra Medicine and Clinical Professor in Immunopathology, Qatar University. Yousuf studied medicine at Cambridge University, with clinical training at Guy’s & St Thomas’ Hospitals, qualifying in 1993 with Distinctions in Medicine and Pathology. He was a Clinical Lecturer in Immunology at King’s College London 1998-2004, then Consultant Immunologist at Surrey Pathology Services 2004-18 and Clinical Lead in Immunology at Guy's & St Thomas' Hospitals, London 2006-14. He worked for 25 years in the UK National Health Service, before moving to establish the Diagnostic Immunology Laboratory at Sidra in 2018. His early work studied novel diagnostic methods and treatments for SLE, and his current research concerns early recognition and diagnosis of primary and secondary immunodeficiency. He has authored 90 publications and chapters, and received grant awards in autoimmunity and immunodeficiency, totaling £2.5 million. He was Chair of the Clinical Immunology Committee of the British Society for Allergy and Clinical Immunology 2014-17, an Expert Member for the NICE Quality Standards on Drug Allergy in 2015, on the Guidelines Committee of UK-Primary Immunodeficiency Network 2016-18, and is the Country Advisor for the Royal College of Pathologists for Qatar. In 2018, he was the senior author on UK recommendations for hypogammaglobulinemia secondary to B-cell therapies, and has a current grant studying immunodeficiency after rituximab in autoimmunity. He is the co-Lead of the Sidra Immune Dysregulation Clinical Research Program.

Nicolas Encina

ICoNS Consortium

Nic Encina is the Director of Strategy & Cofounder of the Precision Population Health program at Ariadne Labs, Harvard School of Public Health, and Brigham & Women’s Hospital, and he is also Executive Director & Cofounder of the International Consortium on Newborn Sequencing (ICoNS), which holds an annual conference and is spearheading the harmonization of learnings across global programs. Nic is a successful entre- and intra-preneur, having started a series of successful software companies, biotech companies, and many successful intrapreneurial ventures, such as an innovation lab for PerkinElmer, a Harvard research program, and flagship product lines for publicly traded companies. Nic holds graduate degrees in Stem Cell Biology, Computer Science, and an MBA from Yale, with his graduate work conducted in the BLAST lab of Washington University Medical School, as part of the Human Genome Project.

Dr. Richard Oram

Exeter Uni

Professor of Diabetes and Nephrology, University of Exeter Medical School, Exeter, UK

Professor Richard Oram is a clinician scientist with a record in bringing original ideas and approaches to type 1 diabetes research. His contributions include paradigm-shifting studies of β-cell function, highlighting persistence of endogenous insulin in many with longstanding type 1 diabetes (T1D). Professor Oram developed a type 1 diabetes genetic risk score (T1D GRS) that has rapidly been integrated into clinical care for classification of diabetes, with field changing impacts on type 1 diabetes population screening. In parallel, his study of extremely early onset T1D in babies is revealing novel insights about genetic, immune and phenotypic factors associated with very early onset diabetes, with critical advances relating to the role of β-cell stress, and immune checkpoints in causality of autoimmunity.

PRECISION MEDICINE
AND THE FUTURE
OF GENOMICS PMFG 2024 SUMMIT

Date

Time

Location

Welcome to Precision Medicine and the Future of Genomics 2024 Summit

Past PMFG Conferences

2023

2022

2021

2020

Chairs

Dr. Ammira Akil

Prof. Khalid Fakhro

Speakers

Nicolas Encina

Dr. Wan Yue

Dr. Raghib Ali

Dr. Chantal Mathieu

Dr. Manuela Battaglia

Dr. Carlos Bustamante

Under the Patronage of

Official Airline Partner

Sponsors

Target Audience

Conference Pillars

PRECISION MEDICINE AND THE FUTURE OF GENOMICS PMFG 2024 SUMMIT

Date

Time

Location

Welcome to Precision Medicine and the Future of Genomics 2024 Summit

Past PMFG Conferences

2023

2022

2021

2020

Chairs

Dr. Ammira Akil

Prof. Khalid Fakhro

Speakers

Nicolas Encina

Dr. Wan Yue

Dr. Raghib Ali

Dr. Chantal Mathieu

Dr. Manuela Battaglia

Dr. Carlos Bustamante

Under the Patronage of

Official Airline Partner

Sponsors

Target Audience

Conference Pillars

Conference Objectives

PRECISION MEDICINE
AND THE FUTURE
OF GENOMICS PMFG 2024 SUMMIT