Search Results
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… a more profound understanding of the biological basis of disease will pave the way for more effective ways to … for a new form of methylmalonic acidemia. However, NHGRI's clinical research endeavors extend far beyond searches for disease genes. researchers are studying knock-in mouse with …
Event
On May 1–2, 2018, the National Human Genome Research Institute (NHGRI) sponsored this NHGRI workshop in Silver Spring, Maryland.
Educational Resources
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.
… tend to occur together and are associated with a specific disease. … Fragile X Syndrome, Genetic Variation, Genetic Testing, Genetic Disease … A syndrome, as related to genetics, is a group of … tend to occur together and characterize a recognizable disease. Some syndromes have a genetic cause. … A syndrome is …
Genetic Disorders
Familial Mediterranean Fever is an inherited disease, characterized by recurrent attacks of fever, inflammation, painful, swollen joints, and ankle rash.
… Familial Mediterranean Fever (FMF) is an inherited disease, characterized by recurrent attacks of fever, … a characteristic ankle rash. … FMF is considered a rare disease worldwide. However, it is very common in people of … in establishing a correct diagnosis of FMF is the patient's ancestry. Testing for the following can also be helpful: …
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. … Improved Understanding of … John J. O'Shea, M.D., is the scientific director at NIH's National Institute of Arthritis and Musculoskeletal and … Vahedi, Ph.D., is a postdoctoral fellow in Dr. O'Shea's lab in the Molecular Immunology and Inflammation Branch. …
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
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 …