Search Results
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… Gaucher disease is an autosomal recessive inherited disorder of … of laboratory test involves DNA analysis of the GBA gene for the four most common GBA mutations. Both enzyme and DNA …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… Huntington's disease is an inherited neurological illness causing … will cause them to develop the disease. There is no cure for this fatal disease. A single abnormal gene produces HD. …
Clinical Research
The Protocol Service Center provides assistance in the development and administration of study protocols requiring NIH Institutional Review Board approval.
… The National Human Genome Research Institute (NHGRI) Protocol Service Center (PSC) provides protocol navigation assistance to NIH … Protections (OHSRP) to create a network of resources for the investigator wishing to conduct clinical research. …
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 …
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 …
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 …
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), …
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 diagnose, treat and prevent … up analysis on the impact of predictive testing for the inherited colon cancer genetic syndrome, hereditary …
Training, Diversity and Health Equity Office (TiDHE)
The Diversity Centers for Genome Research Consortium aims to support the development of innovative genomic research projects through infrastructure building and the formation of interdisciplinary research teams at Minority Serving Institutions (MSIs), institutions with a documented record and/or historical and current mission of recruiting, educating, training and graduating students from any of the populations identified as underrepresented in biomedical research.
… The Diversity Centers for Genome Research Consortium aims to support the … and analytical capabilities of MSIs. … Diversity Center for Genome Research at Meharry Principal Investigator: … Lunch and Learn: The Role of the Human Lipidome in Complex Disease March 22, 2024  Chan Zuckerberg Biohub Metagenomics …
News Release
Researchers with support from NIH will conduct research into the genetic underpinnings of Alzheimer's disease.
… 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 … Boerwinkle, Ph.D., University of Texas Health Sciences Center, Houston, will receive grants expected to total $3.8 …