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News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… for demystifying undiagnosed illnesses - particularly rare childhood diseases - is moving from research laboratories into general medical practice. Now, two … for whom the technology is most promising are those with rare disorders that seem to be the result of variants in a …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… 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, … the institute's goals to advance medical knowledge about rare diseases and to potentially provide insights into more …
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 … Further understanding of this risk is a main focus of research of our team. … Lysosomal Storage Disorder: A Natural History of Gaucher disease Eligibility Criteria: Anyone who has been diagnosed …
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. … to learn more about the genetic components of common and rare disorders, and to develop new and more effective tests …
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. … has approved the first treatment for progeria , a rare and fatal pediatric disease, characterized by dramatic, rapid aging beginning in … Media Availability: NIH research leads to first FDA-approved treatment for progeria …
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) … staff, use either the Content Map for Contacts by Research Area  or the Contacts by Research Area: Search . …
Research Training
The Postdoctoral Intramural Research Training Award provides full-time, semi-independent research in NHGRI laboratories.
… The Postdoctoral Intramural Research Training Award (IRTA) is available to promising … who are interested in pursuing full-time, semi-independent research in National Human Genome Research Institute (NHGRI) laboratories. … years, depending on the annual review of the trainee's research accomplishments and the availability of …
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 … a functional copy of the NPC1 gene into mice with the disease; the treated animals were then found to have less … Human Molecular Genetics . Niemann-Pick disease is a rare and fatal disorder of the central nervous system (the …
Research Funding
A list of funding opportunities in genomics research provided by NHGRI and the National Institutes of Health.
… The National Human Genome Research Institute supports research and training and career development opportunities in support of its research mission which is to accelerate scientific and … To apprise the community of research areas that support that mission, NHGRI periodically …
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 … sickle cell disease and the gene therapy and biomedical research communities.  …