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Educational Resources
A gene pool is the total genetic diversity found 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 …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… National Human Genome Research Institute (NHGRI) researchers are highlighting rare disease research that benefits affected patients and also … underlining this important relationship in advance of Rare Disease Day at NIH , a day-long symposium that is part of a …
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 fewer than 200,000 people in the United … a role in rare diseases. Such factors may directly cause disease, or interact with genetic factors to cause or increase the severity of disease. … (See: Learning About Cystic Fibrosis ); Huntington's disease, which affects the brain and nervous system (See: …
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 …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… NIH-funded ClinGen panel also validates three genes believed to be associated with long QT syndrome … definitively associated with the most common form of the disease. The work was funded by the National Human Genome Research Institute (NHGRI), part of the National …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease (SCD). … to explore two approaches for reducing the burden of the disease. The first approach will let researchers correct the … expressed overall optimism about participating in human genome editing clinical trials, but were concerned …
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 … race-ancestry differences in the burden of cardiovascular disease (CVD) reflects the influence of a unique interplay … of the potential effect of the DNA variant of interest on human systems biology. In some cases family members of the …
Educational Resources
Gene mapping is the process of establishing the locations of genes on the chromosomes.
… mapping is the process of establishing the locations of genes on the chromosomes. … refers to the process of determining the location of genes on chromosomes. Today, the most efficient approach for … to analyze the sequence to identify the location of genes. … mapping is the process of establishing the locations of genes on the chromosomes. …
Educational Resources
Gene amplification is an increase in the number of copies of a gene sequence.
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… treatment approved by the FDA . The ability to read the human genome quickly and cheaply has led to substantial … gene had never been documented, and he was the first known human to lack this protein. So, he helped define the list of … identification of at least 15 other children with the same disease, and the establishment of the NGLY1 Foundation  to …