Search Results
The Genomics Landscape
In the July 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 10th anniversary of the Undiagnosed Diseases Program.
… to direct the program today. With the goal of improving disease management for individual patients and advancing … basic researchers to identify the underlying mechanisms of disease. Training clinicians in the use of contemporary … New Evidence that Viruses May Play a Role in Alzheimer's Disease Novel Drug Therapy Partially Restores Hearing in Mice …
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… to use that knowledge to reduce the burden of neurological disease. About the National Institutes of Health (NIH): NIH, …
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 … in which researchers identified a genetic neurological disease among Lagotto Romagnolo dogs, an Italian breed known … scientists had yet to connect ATG4D to any neurological disease in humans. “Among genetic diseases, we’ve solved many …
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.
… misdiagnosed the children with Moebius Syndrome, a disease characterized by facial paralysis. "My sister Tonya … colleagues described and named the children's very rare disease, Carey-Fineman-Ziter syndrome (CFZS). Thirty-five … of Health." Sadly, Tonya Hanson developed restrictive lung disease and died of pneumonia when she was 37 years …
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.
… interactive webinar for the Multi-Omics for Health and Disease program funding opportunity announcements (FOAs). NIH … process: RFA-HG-22-008 : Multi-Omics for Health and Disease — Disease Study Sites (U01 Clinical Trial Not Allowed) …
Clinical Research
An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic (At-home Participation).
… implications of COVID19 in individuals with mitochondrial disease or their family members is unknown. Individuals with mitochondrial disease may be particularly at risk for decline associated … like genetic differences in individuals with mitochondrial disease who may be infected with COVID-19. Our goal is to …
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.
… have now identified the cause of the illness, a new disease called CRIA syndrome. The results were published in … has characteristics typical of an autoinflammatory disease, where the immune system appears to be activated … relationship, Kastner’s team named the resulting disease cleavage-resistant RIPK1-induced autoinflammatory …
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… researchers know little about their roles in health and disease. Clinicians and researchers hope to use information about genomic variants to evaluate individual disease risk, make better diagnoses, develop more appropriate disease surveillance strategies, and provide better, tailored …
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… and to dissect gene regulatory pathways in development and disease. His primary areas of interest include the … as well as the lysosomal storage disorder Niemann-Pick disease, Type C. By integration of basic science research … discover the alterations in these pathways that lead to disease and develop paradigms for therapeutic interventions. …
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.
… of Health is establishing the Multi-Omics for Health and Disease Consortium , with approximately $11 million awarded … and cellular processes involved in human health and disease, including untangling genetic and non-genetic factors in health and disease. Such an approach offers great promise in areas such …