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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Multi-Omics for Health and Disease (Multi-Omics)1
News Release
Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.
… an ongoing challenge of distinguishing variants that cause disease from those that do not. Scientists estimate that each person's genome contains between three and four million genomic … at the University of North Carolina at Chapel Hill. "It's difficult to implicate specific variants as having an …
News Release
TCF1 (for T cell factor-1) is essential for the creation and persistence of disease-fighting antibodies in the bloodstream.
… long-lasting antibodies that will defend the body against disease for years. Now, a team headed by scientists at the … M.D., Ph.D., senior investigator and chief of NHGRI's Genetic Disease Research Branch. "If we knock it out in … if the antibodies see a pathogen they will attack it. That's the gold standard for vaccines." The new findings were …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… and Robert C. Green, M.D., M.P.H., of Brigham and Women's Hospital and Harvard Medical School, Boston, note in the … Journal of Medicine (NEJM) . Biesecker, chief of NHGRI's Medical Genomics and Metabolic Genetics Branch, predicted … These variants may point to the cause of the patient's disease. In an NHGRI-funded study published in the NEJM last …
Staff
Barbara Thomas is a scientific review officer for the Center for Inherited Disease Research (CIDR).
… and Executive Director of the NIH Center for Inherited Disease Research (CIDR) , a trans-NIH program that provides … for NHGRI datasets in dbGaP. Dr. Thomas received a B.S. degree in Microbiology from the Pennsylvania State … a scientific review officer for the Center for Inherited Disease Research (CIDR). … Barbara Thomas, genomic data …
Educational Resources
Cystic fibrosis is a hereditary disease characterized by faulty digestion, breathing problems, respiratory infections, and loss of salt in sweat.
… Cystic Fibrosis (CF) … Cystic fibrosis is a hereditary disease characterized by faulty digestion, breathing … infections, and loss of salt in sweat. … Hereditary Disease, Family Health History, Gene, CFTR … Cystic fibrosis … or 40s, or even longer. … Cystic fibrosis is a hereditary disease characterized by faulty digestion, breathing …
Educational Resources
Genetic epidemiology is a relatively new medical discipline that seeks to understand how genetic factors interact with the environment in the context of disease in populations.
… factors interact with the environment in the context of disease in populations. … Genetic Epidemiology, Healthcare, Medicine, Population Genetics, Genetic Disease … Genetic epidemiology is a field of science focused … factors influence human traits, such as human health and disease. In many cases, the interaction of genes with the …
News Release
A new study highlights how genomic mutations that cause mitochondrial disease may also compromise affected people's immune response.
… highlights how genomic mutations that cause mitochondrial disease may also compromise affected people's immune response. … Based on clinical data from patients … mitochondrial disease may also compromise affected people's immune response. … Mitochondrial disease, human immune …
NEWS RELEASE
Final outcomes from the most comprehensive analysis to-date of humans and their microbiomes definitively link microbes and microbial activities with health problems.
… phase two of the Human Microbiome Project suggests. Who’s there? Surveying the microbiome in humans The National Institutes of Health’s (NIH) Common Fund established the decade-long Human … yet know if a change in a microbial community leads to a disease or if a microbial community changes in response to …
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… (EMRs) to better understand the underlying genomics of disease. Many of the studies point to new associations of … researchers hope to reach this goal by combining a patient's data and disease characteristics with his or her genomic … repositories have been genotyped - that is, the individual's genetic make-up has been determined. With that information …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… and clinical decline in individuals with mitochondrial disease. … Clinical studies give us a better understanding of … Healthy People and in People With Skin Conditions Gaucher's Disease Genetic Studies of Lysosomal Storage Disorders … of Immune Disorders Healthy Individuals PET Scanning in Parkinson's Disease Healthy Individuals Study of Autoimmune …