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.
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: …
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 …
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 …