Search Results
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… The Genetic Disease Research Branch studies the mechanisms by which genetic … structure and function of gene products leading to human disease. … A major focus of the branch's research lies in understanding how disruptions in signaling pathways and transcription factors contribute to disease. Our investigators use genetics and genomic …
Educational Resources
Autosomal dominance is a pattern of inheritance characteristic of some genetic diseases.
… (one from each parent) to cause the disorder. Huntington’s disease is an example of an autosomal dominant genetic …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… a molecule that shows promise as a possible treatment for the rare Gaucher disease and the more common Parkinson's disease. Ellen … Neurological Disorders and Stroke (NINDS) and the National Center for Advancing Translational Sciences (NCATS), … drug screening, researchers at NCATS Chemical Genomics Center evaluated hundreds of thousands of different …
Event
The NHGRI Center for Genomics and Data Science Research is pleased to host Dr. Ewan Birney for a special seminar to celebrate the center’s first year of operation.
… The NHGRI Center for Genomics and Data Science Research is pleased to host Dr. Ewan Birney for a special seminar to celebrate the center’s first year of operation. Dr. Birney’s own research … Center for Genomics and Data Science Research Special Seminar … The NHGRI Center for Genomics and Data Science Research is pleased to …
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… (NIH), clinical researchers at the National Human Genome Research Institute (NHGRI) are leading a new era in medicine … a more profound understanding of the biological basis of disease will pave the way for more effective ways to diagnose, treat and prevent … Finland in the quest to determine the genetic risk factors for adult-onset, Type II diabetes. Analyzing data gathered in …
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… Behçet's disease is a disease that destroys blood vessels through systemic … as well as vision destroying inflammation of the eyes. Research suggests the disease develops due to pathogen exposure, along with a mix … from Dan Kastner, M.D. Ph.D.'s group in the Inflammatory Disease Section of the Division of Intramural Research …
Research at NHGRI
CRGGH facilitates understanding of the relationship between genetic variation and population differences in disease distribution to inform health disparities.
… The Center for Research on Genomics and Global Health (CRGGH) facilitates a … human genetic variation and population differences in disease distribution, with the ultimate goal of informing … primary objectives: Develop genomic resources for the conduct of primary research into the etiology of …
News Release
Researchers with support from NIH will conduct research into the genetic underpinnings of Alzheimer's disease.
… support from the National Institutes of Health to conduct research into the genetic underpinnings of Alzheimer's disease, analyzing how genome sequences-the order of chemical … or protect against the disease. The NIH awarded grants for using innovative new technologies and computational …
Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… The National Human Genome Research Institute funded the Centers for Mendelian Genomics (CMG) in 2011 with the charge to … treatment or other clinical advice. Please visit the Center links above to seek opportunities for collaboration. … April 16, 2020  Mendelian Genomics Data Coordinating Center (U24 Clinical Trial Not Allowed) RFA-HG-20-008 …
Research Funding
Funded in 2016 to harmonize, access, and analyze the data produced by the sequencing centers.
… University School of Medicine A cross-institutional center at Icahn School of Medicine at Mount Sinai , … including publications, can be found on the Coordinating Center's website: http://gspac.rutgers.edu/ . The GSPACs work closely with NHLBI's Trans-omics for Precision Medicine Program  to harmonize joint variant …