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For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… is by no means comprehensive. … A genetic disorder is a disease caused in whole or in part by a change in the DNA … are present in an individual at birth, like sickle cell disease. Other diseases are caused by acquired mutations in a gene or group of genes that occur during a person's life. Such mutations are not inherited from a parent, but …
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 … non-obesity related FTO variants had potential ties to non-inflammatory disorders of the cervix and chronic …
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 … "Deciding which genomic variants are important players in disease is probably the most difficult challenge that we face …
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 … factor-1) is essential for the creation and persistence of disease-fighting antibodies in the bloodstream. TCF1 doesn't … M.D., Ph.D., senior investigator and chief of NHGRI's Genetic Disease Research Branch. "If we knock it out in …
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 … 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 …
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 with mitochondrial disease, the researchers created a mouse model of …
Fact Sheet
Your mental and physical health are deeply connected. Mental health is important for your health and quality of life. 
… strong impact on your physical health. Because of this, it’s important to care for your mental and physical health as … 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 …