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News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… Jeannine Mjoseth … National Human Genome Research Institute (NHGRI) researchers are highlighting rare disease research that benefits affected patients and also … studies of Gaucher disease, we hope to identify pathways, genes and therapies that might be involved in or affect …
Educational Resources
A gene pool is the total genetic diversity found within a population or a species.
… within a population or a species. … Genetic Diversity, Genes, Extinction, Population Genetics … A gene pool refers to the combination of all the genes (including alleles) present in a reproducing population …
Educational Resources
Gene therapy is an experimental technique for treating disease by altering the patient's genetic material.
… … Gene therapy is an experimental technique for treating disease by altering the patient's genetic material. … Genetic Disease, Genetic Disorder, Gene Mutation, Cancer Treatment, … technique that uses a gene(s) to treat, prevent or cure a disease or medical disorder. Often, gene therapy works by …
For Patients and Families
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.
… A rare disease is generally considered to be a disease that affects … … Examples of rare diseases caused by mutations in single genes include cystic fibrosis, which affects the respiratory … administered by the intramural program of the National Human Genome Research Institute (NHGRI). To learn more about …
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… of Health (NIH), clinical researchers at the National Human Genome Research Institute (NHGRI) are leading a new era … a more profound understanding of the biological basis of disease will pave the way for more effective ways to … gene discoveries, including the identification of genes responsible for holoprosencephaly, for a variety of …
News Release
NIH has awarded grants of more than $28 million aimed at deciphering the language of how and when genes are turned on and off.
… million aimed at deciphering the language of how and when genes are turned on and off. These awards emanate from the … Genomics of Gene Regulation (GGR) program of the National Human Genome Research Institute (NHGRI), part of NIH. … … to work together can be important for understanding disease," said Mike Pazin, Ph.D., a program director in the …
Clinical Research
GENE-FORECAST® is developing a community cohort and resource for defining the significance of ancestry-related genomic variation in African-Americans.
… Factors and the Social Determinants of Cardiovascular Disease in Africans Americans Study (GENE-FORECAST®) study is … of the potential effect of the DNA variant of interest on human systems biology. In some cases family members of the … by improving our knowledge of the relationship between genes, social factors, the environment and cardiovascular …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… The Centers for Common Disease Genomics (CCDG) are a collaborative large-scale … and protective variants contributing to multiple common disease phenotypes. … The CCDG initiative explores a range of … variant discovery for enough different examples of disease architectures and study designs to better understand …
Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
… Huntington's Disease … Huntington's disease is an inherited disease characterized by the … muscle function. … Huntington's Disease, Genetic Disease, Genes, Autosomal Dominant … Huntington’s disease is a rare …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… Sickle cell disease is a group of inherited red blood cell disorders. … …   Researchers used bioengineering to create mice with a human gene that produces the defective hemoglobin causing … "corrected" by the addition of the anti-sickling human beta-hemoglobin gene. The corrected marrow was then …