Search Results
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
… Jeannine Mjoseth … National Institutes of Health (NIH) researchers have identified a treatment that significantly decreases the risk of stroke  in children with a rare genetic disease called DADA2 (deficiency of adenosine deaminase type …
News Release
Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new neurological condition characterized by issues with motor coordination and speech.
… New disease could provide insights into how the cell’s recycling … a healthy brain. … Researchers at the National Institutes of Health have discovered a new neurological condition … one child had abnormalities in the cerebellum, the part of the brain involved in complex movement among other …
News Release
Using a recently developed DNA base-editing technique, researchers correct accelerating aging disorder.
… used a DNA-editing technique to extend the lifespan of mice with the genetic variation associated with progeria, a rare genetic disease that causes extreme premature aging in children and … the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health; Broad Institute of …
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… Dr. William Pavan received his B.S. in animal science from the University of Massachusetts, Amherst, and his Ph.D. in physiology from … associated skin cancer risks, as well as provide animal models for future studies of drug intervention. Dr. Pavan’s …
News Release
In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.
… to have weak facial muscles, cleft palates and curvature of the spine. Nor did they know what produced the phlegm that … child's lungs every 15 minutes for the first three years of their lives. … "You do what you have to do," said Janice … misdiagnosed the children with Moebius Syndrome, a disease characterized by facial paralysis. "My sister Tonya …
Event
NHGRI, National Institute of Environmental Health Sciences (NIEHS) and National Cancer Institute (NCI) will host a pre-application interactive webinar for the Multi-Omics for Health and Disease program funding opportunity announcements (FOAs): RFA-HG-22-008,
RFA-HG-22-009 and RFA-HG-22-010.
… Genome Research Institute (NHGRI), National Institute of Environmental Health Sciences (NIEHS) and National Cancer … interactive webinar for the Multi-Omics for Health and Disease program funding opportunity announcements (FOAs). NIH program staff will provide an overview of the three FOAs, the goals and objectives of the program, …
News Release
Over the last 20 years, three families have been unknowingly linked to one another by an unknown illness. Researchers at the National Human Genome Research Institute (NHGRI) and other organizations have now identified the cause of the illness, a new disease called CRIA syndrome. The results of their work were published on Dec. 11 in the journal Nature.
… the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, and other organizations … have now identified the cause of the illness, a new disease called CRIA syndrome. The results were published in … Hall Institute in Australia, who made specialized mouse models with similar RIPK1 mutations as seen in CRIA patients. …
Policy Issues
Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease areas.
… on cancer, mental health, rare diseases, and many other disease areas. … Basic research exploring human and nonhuman … gene therapy has grown tremendously since the discovery of CRISPR, the vast majority of work undertaken by scientists … the disease. It can also lead to the creation of "disease models," or laboratory animals that mimic human diseases and …
Clinical Research
An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic (At-home Participation).
… An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 … is a serious public health problem and the implications of COVID19 in individuals with mitochondrial disease or their family members is unknown. Individuals with …
For Patients and Families
List of resources to help you find accurate and reliable information on genetic and rare diseases.
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… on genetic and rare diseases among the millions of online sources is a difficult task for almost everyone. We … … As Internet users quickly discover, an enormous amount of health information is available online. The material … your medical care. … Information on just about any disease can be obtained from the published scientific …