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Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
… Huntington's Disease … Huntington's disease is an inherited disease characterized by the … Genes, Autosomal Dominant … Huntington’s disease is a rare inherited disorder associated with the progressive loss …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… Jeannine Mjoseth … National Human Genome Research Institute (NHGRI) researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies. Findings on this ultra-rare disease, found in approximately 600 people in the world, …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… Researchers at the National Human Genome Research Institute (NHGRI) are working with patients and … and clinical decline in individuals with mitochondrial disease. … Clinical studies give us a better understanding of … to learn more about the genetic components of common and rare disorders, and to develop new and more effective tests …
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… correcting the single faulty gene that causes Niemann-Pick disease, type C1 (NPC1). The gene therapy involved inserting … study, led by researchers at NIH's National Human Genome Research Institute (NHGRI) and the Eunice Kennedy Shriver … Human Molecular Genetics . Niemann-Pick disease is a rare and fatal disorder of the central nervous system (the …
News Release
The U.S. Food and Drug Administration has approved the first treatment for progeria, a rare and fatal pediatric disease, characterized by dramatic, rapid aging beginning in childhood.
… M.D., Ph.D., available to discuss this major advance for rare, fatal pediatric disease. … What The U.S. Food and Drug Administration has … and Senior Investigator at the National Human Genome Research Institute (NHGRI), Francis S. Collins, M.D., Ph.D., …
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project utilizes a deliberative stakeholder-engagement approach to develop patient educational materials for sickle cell disease gene therapy.
… It is imperative that patients with sickle cell disease who are considering gene therapy fully understand the … Project welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or … materials for sickle cell disease gene therapy. … Research at NHGRI …
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 … Further understanding of this risk is a main focus of research of our team. … Ongoing, currently recruiting: … between Gaucher disease and parkinsonism: Insights from a rare disease. Neuron 93:137-46,2017. PMID: 28231462 Borger …
Staff
Dr. ​Adam Felsenfeld is a program director in the Division of Genome Sciences at the National Human Genome Research Institute.​
… specific responsibility for the NHGRI Centers for Common Disease Genomics program and the GSP Analysis Centers. Dr. … genome sequencing, DNA sequencing, common diseases, rare diseases … Adam Felsenfeld, genome sequencing, DNA … Division of Genome Sciences at the National Human Genome Research Institute.​ … Staff …
Research Funding
NHGRI solicits grant applications that relate to its scientific priorities and research interests
… submitted to the National Institutes of Health (NIH) for research or research training are investigator-initiated proposals. These … special grant solicitations targeted toward specific research interests and priorities. Program announcements (PA) …
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… of nearly 20 papers published online in 2014 highlights research on the use of DNA biorepositories and electronic … (EMRs) to better understand the underlying genomics of disease. Many of the studies point to new associations of … (NIH). The major goal of eMERGE is to better understand disease risk and susceptibility and, ultimately, improve …