Search Results
Event
NHGRI will host a two-day symposium, on December 2-3, 2021, examining the history of eugenics and scientific racism and their complex legacies in the modern health sciences.
… the history of eugenics and scientific racism and their complex legacies in the modern health sciences. In addition, … the history of eugenics and scientific racism and their complex legacies in the modern health sciences. … NHGRI will … the history of eugenics and scientific racism and their complex legacies in the modern health sciences. … Event …
Clinical Research
An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic (At-home Participation).
News Release
NIH is establishing the Multi-Omics for Health and Disease Consortium, with approximately $11 million awarded in the consortium’s first year of funding. The new consortium aims to advance the generation and analysis of “multi-omic” data for human health research.
… drug targets. “Beyond gaining insights into individual diseases, the primary goal of this consortium is to develop … strategies as well as methods to analyze these large and complex datasets,” said Joannella Morales, Ph.D., a National … strategies as well as methods to analyze these large and complex datasets. We expect these strategies will ultimately …
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… His primary areas of interest include the development and diseases of melanocytes, the cells responsible for … included identification of a role for the exon junction complex in stem cell maintenance and DNA integrity, discovery … Myung K, Walsh CA, Gaiano N, Pavan WJ. The exon junction complex component Magoh controls brain size by regulating …
For Patients and Families
List of resources to help you find accurate and reliable information on genetic and rare diseases.
… accurate and reliable information on genetic and rare diseases among the millions of online sources is a difficult … results of studies and weighing the evidence can be a very complex task. Because of this complexity, and because of the … resources. Online Medical Dictionaries and Encyclopedias Complex medical terminology can be difficult to understand. …
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.
… M.D., Ph.D., a pioneer in the field of autoinflammatory diseases, and his team discovered CRIA, which has symptoms … unexplained fever, swollen glands and other symptoms or diseases, and then at over a quarter million people from … are routinely used to treat autoinflammatory and chronic diseases such as rheumatoid arthritis, had little effect on …
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… to apply these standards in the context of particular diseases. ClinGen projects center on developing processes and …
News Release
Researchers build a statistical model using family health history to improve disease risk assessment
Researchers at the National Human Genome Research Institute (NHGRI) have developed a new statistical model that can predict the risk for developing diseases by combining information about family member health and lifestyle factors from family members.
… statistical model that can predict the risk for developing diseases by combining information from family members about … and costly chronic diseases to treat. T2D is known as a complex disease because its development depends strongly on a … and specific, relying on models that can only be used for complex diseases such as hypertension, high cholesterol and …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… rare metabolic disorders and the discovery of new genetic diseases. He elucidated the basic defects in cystinosis and … HPS-9, PLDN encodes pallidin, a member of an eight-protein complex called BLOC-1 (Biogenesis of Lysosome-related Organelles Complex-1). Pallidin interacts with the early endosomal …
Policy Issues
Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease areas.
… being applied to research on cancer, mental health, rare diseases, and many other disease areas. … Basic research … "disease models," or laboratory animals that mimic human diseases and can be studied to test new therapies. In the … to use genome editing as a treatment for disease. Many diseases from cancer to asthma have genetic bases. Through …