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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
NIH investigators have discovered that genomic switches of a blood cell are key to regulating the human immune system.
… those with autoimmune disorders such as inflammatory bowel disease or rheumatoid arthritis. … John J. O'Shea, M.D., is the scientific director at NIH's National Institute of Arthritis and Musculoskeletal and … risk factors helps us assess a person's susceptibility to disease. With further research on the associated biological …
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 …
Educational Resources
Cystic fibrosis is a hereditary disease characterized by faulty digestion, breathing problems, respiratory infections, and loss of salt in sweat.
… Cystic fibrosis is a hereditary disease characterized by faulty digestion, breathing … Hereditary Disease, Family Health History, Gene, CFTR … Cystic fibrosis is a hereditary disease characterized by faulty digestion, breathing …
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). …
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 with mitochondrial disease, the researchers created a mouse model of mitochondrial disease in T-cells. T-cells play important roles in human …
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. … Healthcare, Medicine, Population Genetics, Genetic Disease … factors influence human traits, such as human health and disease. In many cases, the interaction of genes with the … the causes, distribution and control of inherited disease in groups and the multifactorial causes of genetic …
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 …
Health FAQ
Discuss these questions with your doctor or health care provider.
… Project welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or … your general understanding of gene therapy for sickle cell disease. We encourage you to use these educational materials … across all therapies, including your age, your sickle disease genotype, other treatments you are taking, your …
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 … (NIH). The major goal of eMERGE is to better understand disease risk and susceptibility and, ultimately, improve … researchers hope to reach this goal by combining a patient's data and disease characteristics with his or her genomic …