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Educational Resources

Susceptibility is a condition of the body that increases the likelihood that the individual will develop a particular disease.

… Susceptibility … Susceptibility is a condition of the body … likelihood that the individual will develop a particular disease. … Gene, Gene Environment Interaction, Inherited, … predisposed to, or sensitive to, developing a certain disease. An individual’s disease susceptibility is influenced …

Talking Glossary

Cancer-Susceptibility Gene

A cancer-susceptibility gene is a gene that, when changed (or mutated), gives an individual an increased risk for developing cancer

… Cancer-Susceptibility Gene … A cancer-susceptibility gene is a gene that, when changed (or … an increased risk for developing cancer … A cancer-susceptibility gene is a gene that, when changed (or …

News Release

NIH supports approaches to discovering DNA differences in genome’s regulatory regions

NIH will fund researchers to develop computational approaches to figure out which differences in DNA make people more susceptible to disease.

… which differences in DNA make people more susceptible to disease. The awards, which total approximately $11.1 million … … To find which genetic variants are associated with a disease, researchers typically conduct a genome-wide … in non-protein-coding genomic regions affect disease susceptibility and response to drugs. Non-protein-coding …

News Release

Grants to help identify variants in the genome's regulatory regions that affect disease risk

Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.

… genomic variants to find those that make a difference in disease susceptibility or in other traits. The awards are for three … the genomes of thousands of people with and without a disease are compared to find the genomic regions containing …

News Release

Genomic variation causing common autoinflammatory disease may increase resilience to bubonic plague

NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.

… populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the … determined that specific genomic variants that cause a disease called familial Mediterranean fever (FMF) may also … animation depicting specific genomic variants that cause a disease called familial Mediterranean fever (FMF) may also …

News Release

Rare disease research may provide insights into common diseases

NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.

… 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 … have been probing the connection between the rare Gaucher disease and the more common Parkinson's disease. While …

For Patients and Families

Rare Diseases FAQ

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 …

Educational Resources

Complex Disease

A complex disease is caused by the interaction of multiple genes and environmental factors.

… Complex Disease … A complex disease is caused by the interaction of multiple genes and environmental factors. … Genes, Cancer, Heart Disease, Gene-environment Interactions … A complex disease …

15 Ways Genomics Influences Our World

Rare Genetic Diseases

Genomics is ending diagnostic odysseys for patients with rare diseases.

… identification of at least 15 other children with the same disease, and the establishment of the NGLY1 Foundation to support research about the disease and pursue possible treatments. In 2015, Matt was one … sequencing can transform the life of someone with a rare disease comes from Sonia Vallabh and Eric Minikel . After a …

For Patients and Families

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases.

… and teachers who work with people with a genetic or rare disease. Even scientists who are studying a genetic or rare disease and who need information for their research have … or rare diseases and advocacy groups who want up-to-date disease information for their members have contacted GARD. …