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Educational Resources
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 … Genes, Cancer, Heart Disease, Gene-environment Interactions … A complex disease (or condition), when discussed in the context of … diseases. This stands in contrast to a “simple” genetic disease that is more directly caused by mutations in a single …
News Release
A the largest genomics study of clear cell endometrial cancer (CCEC) tumors has identified mutations in the TAF1 gene.
… In the largest genomics study of clear cell endometrial cancer (CCEC) tumors to date, National Human … survival rate. "Genomic mutations that contribute to clear cell endometrial cancer can vary from one patient to … commonly diagnosed gynecological cancer. Women with clear cell endometrial cancer, a rare type of endometrial cancer, …
15 Ways Genomics Influences Our World
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
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. …
For Patients and Families
Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.
… is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine. … Rare diseases like hemophilia, cystic fibrosis, and sickle cell anemia also run in families. For example, if a parent … about using genetic information in the treatment of disease. These concerns include: Tailor-made medicines might …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… Charcot-Marie-Tooth disease (CMT) is an inherited neurological disease characterized by a slowly progressive degeneration of … CMT is an inherited neurological disease characterized by a slowly progressive degeneration of … 1 , the peripheral nerves' axons - the part of the nerve cell that transmits electrical signals to the muscles - lose …
For Patients and Families
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
… trypanosomiasis. Commonly called sleeping sickness, this disease is caused by a parasitic microbe transmitted by … Africa. American trypanosomiasis. Commonly called Chagas disease, this disease is caused by a parasitic microbe transmitted by … Specific prevention strategies vary from disease to disease. But experts agree that a good way to head …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… Parkinson's disease is a neurological condition that typically causes … Parkinson's disease (PD) is a neurological condition that typically … Our genetic material is stored in the center of every cell in our bodies (skin cells, hair cells, blood cells). …
News Release
NIH investigators have discovered that genomic switches of a blood cell are key to regulating the human immune system.
… (NIH) have discovered the genomic switches of a blood cell are key to regulating the human immune system. The … those with autoimmune disorders such as inflammatory bowel disease or rheumatoid arthritis. … micrograph of a human T lymphocyte (also called a T cell) from the immune system of a healthy donor. Source: …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… Wilson disease is a rare genetic condition that causes a person's … Wilson disease is a rare genetic condition that affects about one in 30,000 people. Wilson disease causes a person's body to store too much of the … levels of copper can damage organs in the body. In Wilson disease, copper builds up in the liver, brain, eyes and other …