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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.
… Jeannine Mjoseth … For many years, Tonya and Cody Hanson's parents didn't know what caused their children to have weak … the phlegm that had to be suctioned from each child's lungs every 15 minutes for the first three years of their … 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.
… 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 … ruled out, they sought answers in the genome, a person’s complete set of DNA. Kastner and his team sequenced gene … for the RIPK1 protein, which is involved in the body’s response to inflammation and programmed cell death. To make …
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 … and associate professor of pathology at Brigham and Women's Hospital and Harvard Medical School, both in Boston. While … other investigators with the National Institutes of Health's Clinical Genome Resource (ClinGen) describe how the program …
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, … and to dissect gene regulatory pathways in development and disease. His primary areas of interest include the … develop paradigms for therapeutic interventions. Dr. Pavan's group first discovered the neural crest cell transcription …
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 in the consortium’s first year of funding. The new consortium aims to advance … of multiple types of data from an individual participant’s biological sample can provide a more holistic view of the …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… fever (FMF), and later stayed in the same group as a s taff scientist. In 2010, she moved with Dr. Kastner to the … a CLIA-certified laboratory for autoinflammatory disease diagnostics in the IDS. Her scientific … mutations in TNFAIP3 in patients with early-onset Behçet's-like disease, denoted haploinsufficiency of A20 (HA20), and …
For Patients and Families
List of resources to help you find accurate and reliable information on genetic and rare diseases.
… your medical care. … Information on just about any disease can be obtained from the published scientific … as "a goldmine of good health information from the world's largest medical library." Evaluating Health Information … PubMed www.ncbi.nlm.nih.gov/pubmed/ PubMed is NIH's searchable database of published scientific and medical …
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 … to help scientists understand the basic biology underlying disease, as well as to discover new possible therapeutic … and how different changes in these genes affect a person's risk of getting a disease. Many genes have more than one …