- Award of two Path Towards Precision Medicine grants
- Publication of 1st whole genome sequencing study on Autism
12 November 2023, Doha, Qatar – Precision Medicine and Genomics in Pediatric Healthcare was the main theme on the second day of Sidra Medicine’s annual Precision Medicine and Functional Genomics (PMFG 2023) Conference.
PMFG 2023 conference co-chair, Dr. Bernice Lo announced Sidra Medicine continued to showcase its achievements and advancements in precision medicine with the recent award of two Path Towards Precision Medicine grants1. The first grant, Improving Diagnostic Yield in Genome-Negative Families with Multi-omics, while the second, Clinical personalized medicine to treat immunodeficiencies, are both collaborative programs between research and clinical care and aim to enable tailored diagnoses and targeted therapies for patients.
Dr. Edison Liu, Jackson Labs, Professor, President Emeritus and Honorary Fellow discussed the “Path to Precision Medicine: Advancing Human Health and Economic Impact at a National Scale” in his keynote lecture. Commenting on Qatar’s advancement in the precision medicine field, Dr. Liu, who sits on the Research Board at Sidra Medicine said: “I am very impressed with Qatar’s precision medicine journey, which could become a leader in precision medicine for rare and orphan diseases, particularly because of organization’s like Sidra Medicine. In addition to its robust clinical and translational research programs, it has a world-class infrastructure with a talent pool, technology and deep phenotyping facilities to match. This gives it both the ability and the credibility to move from bench to bedside but also back to the bench, to ensure an ongoing cycle of highly advanced personalized care and therapeutic programs for its patients.”
In another precision medicine achievement, Sidra Medicine announced the publication of its BARAKA-Qatar study on the genomic architecture of autism spectrum disorder in Qatar in the prestigious journal, Genome Medicine. The BARAKA-Qatar (Building a Resource for the Advancement of Knowledge of Autism in Qatar) study, an academic collaboration with the Hospital for Sick Children (SickKids) in Toronto, aims to establish a national resource on ASD research, consisting of a biorepository of samples and data on patients at Sidra Medicine.
Dr. Khalid Fakhro, lead author of the study and Chief Research Officer at Sidra Medicine said: “BARAKA-Qatar is the first study of its kind where we sequenced the whole genomes of over 350 families with autism, with data representing predominately Arab and other different ethnicities. This method allowed us to look for all the possible genetic variants that can contribute to autism and explain the genetic risk of these in these families.”
Day 2 also held the highly anticipated panel session on “Precision medicine and functional genomics revolutionize pediatric healthcare” chaired by Dr. Khalid Fakhro with several international experts including Dr. Edison Liu, Dr. Stephen Kingsmore, Dr. Kathleen Sullivan, Dr. Carmella Evans-Molina and Dr. Alessandra Ferlini.
Sidra Medicine CEO, Dr. Iyabo Tinubu-Karch, who opened the panel session said: “Given the dramatic pace of evolution and innovation in healthcare, our mission is underpinned specifically to transform tackling health from a reactive to a more proactive and personalized stance, where the delivery of leading clinical and translational research of value to the population of Qatar and the world - is the next frontier. To that end, we have seamlessly integrated research into clinical care pathways, enabling our researchers to take a more detailed view of individual patients - ultimately facilitating more responsive and flexible individualized care.”
Day 3 of PMFG 2023 on 13 November will feature: INNOVATIONS IN FUNCTIONAL ASSAYS THAT HELP MODEL DISEASE AND ELUCIDATE MECHANISM
- Morning Session: Unveiling the Secrets of Germline Cells, Fertilization & Fertility Preservation & Restoration through Functional Genomics.
- Afternoon Session: Advancements in Pediatric Precision Medicine: From Genomics to Disease Modeling
For details and the agenda, please visit: https://www.sidra.org/events/research/pmfg/2023/
1 – The Path Towards Precision Medicine (PPM) is an annual grant scheme in collaboration between Qatar National Research Fund and Qatar Genome to support local researchers working on genomics and precision medicine. The PPM grants aim to capitalize on the wealth of genomic and phenotypic data produced by QGP and QBB and help understand disease phenotype/genotype correlations and translate research findings into clinical outcomes for better future healthcare in Qatar.