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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) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Multi-Omics for Health and Disease (Multi-Omics)1
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… explore how specific genes and their variations may cause disease in UDN patients. Finally, a one-year grant supports a … in the DNA code - called variants - can cause a disease. Scientists at the center, led by Hugo Bellen, … modify the zebrafish and fruit fly to study the gene variant in question. They add a human gene variant or turn …
Fact Sheet
Sickle cell disease resources for patients
… Project welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or … your general understanding of gene therapy for sickle cell disease. We encourage you to use these educational materials … provider or a clinical trial team. … What is Sickle Cell Disease?   National Institutes of Health (NIH)  About …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease (SCD). … A First-of-its-Kind Study CRISPR-Cas9 is a … to explore two approaches for reducing the burden of the disease. The first approach will let researchers correct the … increases the production of fetal hemoglobin which reduces disease severity. Study participants expressed overall …
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 … anemia in 1910, but there is still much to learn about the disease," said Vence L. Bonham , Jr., J.D., an associate … Research. "We aim to improve our understanding of the disease." Normal blood cells (left) and the blood cells in …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… Gaucher disease (GD) is a rare (autosomal recessive) genetic … neurological manifestations seen in patients with Gaucher disease. The gene coding for the enzyme glucocerebrosidase is … the Ashkenazi Jewish population. Classification of Gaucher Disease There is a wide variation of disease presentation and …
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 ( … may depend on: Your age. Your diagnosis of sickle cell disease. Your response to other treatments. Whether you are … you may: Stop taking hydroxyurea or any other sickle cell disease medication for 2–3 months. Receive blood transfusions …
Partner with NHGRI
NHGRI's technologies, inventions and discoveries are available for licensing.
… … Assay for Predicting the Time of Onset of Niemann-Pick Disease Type C (NPC) DHHS Reference No.: E-060-2013 U.S. … Technology Transfer Abstract Gene Therapy for Niemann-Pick Disease Type C (NPC) DHHS Reference No.: E-185-2014 PCT … Collins, M.D., Ph.D. (NHGRI) Murine Model of Niemann-Pick Disease Type C DHHS Reference No.: E-004-2011 Lead Inventor: …
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 … (FDA) approved two gene therapies to treat sickle cell disease. More than 50 scientists, physicians, patients and … content for the Democratizing Education for Sickle Cell Disease Gene Therapy Project, which is led by NHGRI in …
Staff
Dr. Daniel Gilchrist is a program director of Computational Genomics and Data Science in NHGRI's Division of Genome Science.
… computational biology, functional DNA elements, disease-linked genomic variants … Daniel Gilchrist, … computational biology, functional DNA elements, disease-linked genomic variants … Dr. Daniel Gilchrist 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.
… emerging developments in gene therapies for sickle cell disease. … New educational materials to help the sickle cell disease community learn about gene therapies for the disease are now available from researchers at the National …