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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
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- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
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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 …
Fact Sheet
Sickle cell disease resources for patients
… Education Project welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or …
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 the … Administration (FDA) approved two gene therapies to treat sickle cell disease. More than 50 scientists, physicians, …
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 their …
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 therapies ( … trials . While there are a number of clinical trials for sickle cell gene therapy, the journey can be similar across …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease (SCD). … A First-of-its-Kind Study CRISPR-Cas9 is a …
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 …
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 … inherited with the sickle allele that may influence disease severity. 4. We raised the possibility that the … 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 exploring …
Educational Resources
Sickle cell disease is a hereditary disease seen most often among people of African ancestry.
… Sickle Cell Disease … Sickle cell disease is a hereditary disease seen most often …