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- Genetic Architecture of Complex Traits1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
- Developmental Genotype-Tissue Expression (dGTEx)1
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… Sickle cell disease is a group of inherited red blood cell disorders. … Sickle cell disease is the most common inherited blood … about one in 100 Hispanic Americans carry the sickle cell trait, which means they are carriers of the disease. Sickle …
News Release
NHGRI researchers seek help from people with Sickle Cell Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms.
… Jeannine Mjoseth … People with sickle cell disease (SCD) can experience excruciating pain all over … gene from a parent, the person is said to have sickle cell trait (SCT). People with SCT usually do not have any of the …
News Release
Researchers have now identified three health conditions for which people with SCT are at increased risk.
… 2.5 to 3 million people have a gene variant associated sickle cell trait (SCT) and most never have related health …
News Release
NIH researchers and collaborators have found that that sickle cell trait is prevalent among diverse human populations.
… Study finds that sickle cell trait is prevalent among diverse human populations. … … and collaborators have found that being a carrier for sickle cell disease, known as having sickle cell trait , …
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project developed patient-focused educational materials for the sickle cell community.
… The Big Picture Sickle cell disease is an inherited disorder caused by a change in … Administration (FDA) approved two gene therapies to treat sickle cell disease. More than 50 scientists, physicians, …
Fact Sheet
Sickle cell disease resources for patients
… Education Project welcomes your feedback about the sickle cell disease gene therapy resources. Please email your … to promote your general understanding of gene therapy for sickle cell disease. We encourage you to use these …
News Release
Researchers used whole genome sequence data to investigate the origin of the mutation that causes "sickling" of red blood cells.
… debate about the multi-centric or unicentric origin of the sickle allele in favor of the latter, with an estimate that … a new set of 27 genetic variants inherited with the sickle allele that may influence disease severity. 4. We … of the sickle allele will help clinicians redefine sickle cell subgroups and treat patients more effectively. This …
Clinical Research
The INSIGHTS study is exploring sickle cell disease in adults.
… into Microbiome and Environmental Contributions to Sickle Cell Disease and Leg Ulcers Study (INSIGHTS) study is … Health Information About Sickle Cell Disease Sickle Cell Trait National Human Genome Research Institute - Learning …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… Gene therapy for sickle cell disease is available to you through FDA-approved … trials . While there are a number of clinical trials for sickle cell gene therapy, the journey can be similar across …
News Release
NHGRI researchers have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
… navigate emerging developments in gene therapies for sickle cell disease. … New educational materials to help the sickle cell disease community learn about gene therapies for …