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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Leadership Initiatives
The Genomics and Health Disparities Interest Group provides a forum to connect individuals from different scientific disciplines across the National Institutes of Health (NIH) and researchers in the Washington D.C. metropolitan area engaged in genomics and health disparities research, as well as provide opportunities for professional development, networking and community engagement.
… accelerates , understanding the role of genomics in disease risk and its integration into clinical care is increasingly … community engagement. … health disparities, disease risk, clinical care, interest groups … The Genomics …
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 …
Clinical Research
An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic (At-home Participation).
… (At-home Participation) … Individuals with mitochondrial disease may be particularly at risk for decline associated with infection. The goal of this … and immune differences in individuals with mitochondrial disease when they have an infection. Our goal is to …
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) …
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 … view of the factors that contribute to disease risk and outcomes. Beyond gaining insights into individual …
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 …
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 … These articles present what is known to date about a disease. Such articles may focus on the cause, diagnosis, treatment or other aspects of a disease. Basic science or laboratory research: These articles …
For Patients and Families
Genetic professionals provide information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions.
… or families who have genetic disorders or may be at risk for inherited conditions. … Genetics professionals are … For example, they may specialize in a particular disease (such as cancer genetics), an age group (such as … doctor or medical researcher - who specializes in your disease or disorder. A medical geneticist has completed a …
News Release
NIH researchers have uncovered a key factor in understanding the elevated cancer risk associated with gene therapy.
… a key factor in understanding the elevated cancer risk associated with gene therapy. They conducted research on mice with a rare disease similar to one in humans, hoping their findings may … AAVs are small viruses that infect humans but do not cause disease. A vector is a DNA molecule of AAV used as a vehicle …
Health
Knowledge of your family health history can help you and your healthcare providers identify patterns of inheritance and risk factors.
… healthcare providers identify patterns of inheritance and risk factors. … Modernizing family health history: achievable … a statistical model using family health history to improve disease risk assessment May 1, 2019 Reddit AMA: The importance of …