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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… are associated with clots in the arteries and veins. … Genetic Disorders …
News Release
The U.S. National Institutes of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine and social science studies, to advance our understanding of this widespread illness to help develop effective therapies.
… sickle cell disease, which takes advantage of the latest genetic discoveries and technological advances to move the most promising genetic-based curative therapies safely into clinical trials. … in treatment for sickle cell disease, the first human genetic disease that was understood at the protein and DNA …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… Year in Review Testing and managing iron overload after genetic screening-identified hemochromatosis Actionable … with lifespan in Iceland Impact of digitally enhanced genetic results disclosure in diverse families Chronic … routine whole-genome sequencing Clinical signatures of genetic epilepsies precede diagnosis in electronic medical …
Fact Sheet
Learn about the different types of hemoglobin.
… of hemoglobin A, the body makes hemoglobin S due to a genetic variant . While hemoglobin S still delivers oxygen, … — or sickle — shape.   Sickle cell disease is caused by a genetic variant that makes the body produce hemoglobin S …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… to have: Certain screenings (e.g., MRI, blood tests). A genetic test to determine if there are changes that would …
Health FAQ
Discuss these questions with your doctor or health care provider.
… child having sickle cell trait or sickle cell disease. Genetic counselors are trained to help you know the risks of … the gene to your children. You should ask to speak with a genetic counselor if you need more information. … Every …