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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.
… 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 … only nine people in the world. Called ACDC, this adult-onset condition is associated with progressive and painful …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… a CLIA-certified laboratory for autoinflammatory disease diagnostics in the IDS. Her scientific … a PYRIN domain-containing activator of IL-1b, that cause neonatal-onset multisystem inflammatory disease (NOMID), an … and evidence for genetic heterogeneity in patients with neonatal onset multisystem inflammatory disease (NOMID): A …
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 …
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 …
Staff
Dr. Stone is a staff clinician in NHGRI's Inflammatory Disease Section.
… patients with HA20 (haploinsufficiency of A20), a disease that may be associated with inflammatory liver disease and is investigating medications that will prevent … in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease . Proc Natl Acad Sci U S 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. …
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 … scoliosis (curvature of the spine). People with CMT disease usually begin to experience symptoms in adolescence …
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 …
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. … have known for a long time that common diseases like heart disease, asthma, cancer, and diabetes can run in families. … specific education about how to: Check regularly for the disease. Follow a healthy diet. Get regular exercise. Avoid …
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 … to suggest that these genes are also involved in early-onset Parkinson's disease (diagnosed before the age of 30) or …