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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program4
- Genomics-Enabled Learning Health Systems (gLHS)1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
Clinical Research
This team-based clinical service is provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… before applying? Responsibilities as a PI, consent, type of data accepted, and how to apply … What happens after …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… providers will know if the treatment worked.  … Step 2: Eligibility Your eligibility to participate in a gene … or any other sickle cell disease medication for 2–3 months. Receive blood transfusions each month to reduce … stem cells are collected. The process differs based on the type of gene therapy approach. The process does not always …
Fact Sheet
Diversos enfoques se dirigen a las células madre sanguÃneas para aliviar o reducir los sÃntomas de la anemia de células falciformes.
Fact Sheet
Your mental and physical health are deeply connected. Mental health is important for your overall health and quality of life.
News Release
National Institutes of Health researchers have discovered a specific network of proteins that is necessary to restore hearing in zebrafish through cell regeneration. The study may inform the development of treatments for hearing loss in humans.
News Release
NIH researchers have identified a gene that makes yeast resistant to a lethal toxin.
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… Jewish ancestry. There are three types of the disease: Type 1 causes enlargement of the liver and spleen, a low … bone pain, fractures and arthritis. The less common Types 2 and 3 affect the central nervous system and can cause … liver, spleen, bone marrow and nervous system. The main type of cell that is affected by accumulated glucocerebroside …
News Release
Receiving a cancer diagnosis can feel like losing control of everything.
… So, a cancer diagnosis wouldn't tell a patient simply the type of cancer and the location, but also the molecular and …
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
… Dr. Stewart's research focuses on neurofibromatosis type 1 (NF1), a common, monogenic disorder that dramatically … from which malignant peripheral nerve sheath tumors, a type of soft-tissue sarcoma, arise. Dr. Stewart is also the … to polycystic ovary syndrome on chromosome 19p13.2 and tests for regulatory activity. Journal of Clinical …
Profile
Dr. Pavan looks back on his career at NHGRI, highlights pivotal moments and shares his future plans in artistic woodworking and community mediation.
… and a rare genetic condition called Niemann-Pick disease type C. Dr. Pavan’s notable achievements include discovering … during development. The gene associated with melanoma, a type of skin cancer, and the genetic condition Waardenburg syndrome type 4. He also identified lysosomal transmembrane protein, …