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Genetics and Genomic Medicine

The division entails the diagnosis, treatment, prevention and research in genetic and genomic medicine with respect to precision medicine. It plays an important role in determining the risks of developing certain genetic diseases as well as screening and preventive treatment.

The service is a joint program provided in partnership with Hamad Medical Corporation (HMC). Patients under the age of 18 years, are seen at Sidra Medicine while those the rest at seen at HMC.

Conditions treated:

  • Birth defects
  • Growth problems
  • Intellectual Disability and Developmental Delay
  • Chromosomal disorders
  • Microdeletion/duplication syndromes
  • Craniofacial disorders  
  • Neurocutaneous syndromes  
  • Neuro-Muscular disorders
  • Spinal Muscular Atrophy (SMA)
  • Disorders of Amino Acids
  • Disorders of Organic Acids
  • Disorders of Hyperammonemia and Urea Cycle
  • Disorders of Fatty Acid Oxidation
  • Peroxisomal Disorders
  • Lysosomal Storage Disorders
  • Mitochondrial Disorders
  • Neurometabolic Disorders
  • Methionine and Homocysteine Disorders
  • IEMs of vitamins and trace elements

 

  • Inherited Connective Tissue disorders
  • Inherited Bone Disorders/Skeletal Dysplasia
  • Inherited skin (dermatological) disorders
  • Inherited Hearing Loss
  • Inherited Cardiovascular disorders/Cardiomyopathies
  • Inherited eye Disorders
  • Infertility and Disorders of Sex Development
  • Inherited Ciliopathies
  • Inherited Kidney and Renal Malformation
  • Inherited liver disorders
  • Inherited Cholesterol and Lipid Metabolism
  • Maternal related disorders: Advance maternal age (35 years and above).
    • Positive personal/family history of any genetic condition/disorder with or without a known cytogenetic/molecular diagnosis
    • Abnormal fetal ultrasound scans.
    • Abnormal prenatal screening results.
    • Abnormal prenatal diagnosis results.
    • History of exposure to known teratogens, such as congenital infections (TORCH), medications, or radiation.
    • Maternal diseases known to affect the fetus.

Expertise:

  • Clinical Geneticists
  • Biochemical Geneticists
  • Prenatal Geneticists
  • Genetic Counsellors
  • Metabolic Dieticians
  • Sub-specialty Genetic/Metabolic Nursing
  • Genetic Databases
  • Phlebotomy Services (Satellite lab)
  • Research Services

This service works seamlessly with obstetricians, maternal-fetal medicine sub-specialists, neonatologists, pediatricians and internal medicine specialists to provide a family-based service.

Services:

  • Diagnostic services and testing
  • Genetic Counselling: We provide genetic counseling for all our patients, including
  • Positive Carrier Cases identified through the Qatar National Premarital Genetic Screening Program
  • And those undergoing Preimplantation Genetic Diagnosis (PGD) services
  • Prenatal Genetic Diagnosis: Prenatal genetic testing and diagnosis offers information about whether a fetus has certain genetic disorders
  • Newborn Screening Program: The genetic services team is responsible for the management of all positive cases identified by the Qatar National Expanded Metabolic Newborn Screening Program
  • Inborn Errors of Metabolism (IEM): We also treat metabolic genetic conditions with diet modification and pharmacological therapy for Inborn Errors of Metabolism.
  • Research: When and where appropriate, the service identifies research studies for which patients may qualify, to better understand their conditions or to provide additional therapeutic services. In collaboration with our research division, we also provide access to the latest testing techniques, when medically appropriate, such as whole-exome sequencing, to identify genetic variants