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News Release
NIH will fund researchers to develop computational approaches to figure out which differences in DNA make people more susceptible to disease.
… which differences in DNA make people more susceptible to disease. The awards, which total approximately $11.1 million … identify which genetic variants contribute to inflammatory autoimmune diseases such as Crohn's disease and rheumatoid … susceptible to developing rheumatoid arthritis and other autoimmune diseases. Albert Einstein College of Medicine, New …
Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… widely accepted overarching concept of autoinflammatory disease to denote disorders of the evolutionarily ancient …   … For almost 30 years the focus of the Inflammatory Disease Section (IDS) has been the identification of genes … that confer susceptibility to scleroderma, a serious autoimmune disease, in African Americans. Recent IDS …
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 … "Deciding which genomic variants are important players in disease is probably the most difficult challenge that we face … to implicate specific variants as having an effect on disease because there are millions of variants in the human …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… These variants may point to the cause of the patient's disease. In an NHGRI-funded study published in the NEJM last … year, exome sequencing identified the genetic cause of disease in about 25 percent of patients. The technique has … in a host of diseases, including Charcot-Marie-Tooth disease, mental disability, other neuropathies, metabolic …
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 … a scientific review officer for the Center for Inherited Disease Research (CIDR). … Barbara Thomas, genomic data sharing, Center for Inherited Disease Research (CIDR), peer review, grant applications … …
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 … … 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 …
Fact Sheet
Your mental and physical health are deeply connected. Mental health is important for your health and quality of life. 
… and/or trusted friend. Write about how you feel about your disease and how it affects your life. Reflect on why you … factors. Risks of participation Check out the sickle cell disease gene therapy FAQ Cost What costs does the clinical … no longer living with some of the symptoms of sickle cell disease while others still do. You may also feel guilty about …
News Release
A new method of targeting specific DNA sequences in zebrafish could accelerate the discovery of gene function and the identification of disease genes in humans.
… the discovery of gene function and the identification of disease genes in humans, according to scientists at the … on analyzing proteins or have been identified as possible disease genes, but the functions of those genes have not been … the discovery of gene function and the identification of disease genes in humans. … Zebrafish, genome function, human …