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Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… physical and social environment. For this reason, complex diseases are also called multifactorial diseases. This stands in contrast to a “simple” genetic … in a single gene. Common examples of complex genetic diseases include heart disease, diabetes, and cancer. … A …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… will guide researchers in studying other forms of these diseases, as well as other neurological disorders. Because … - Genetics Home Reference National Organization for Rare Disorders (NORD) Online Mendelian Inheritance in Man … National Center for Biotechnology Information Genetics and Rare Diseases Information Center Finding Reliable Health …
Genetic Disorders
Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5.
… Cri du chat syndrome is a rare genetic condition that is caused by the deletion of … - also known as 5p- syndrome and cat cry syndrome - is a rare genetic condition that is caused by the deletion (a … small arm (the p arm) of chromosome 5. The cause of this rare chromosomal deletion is unknown. … The symptoms of cri …
News Release
Dr. Gahl honored for his leading efforts to diagnose and treat individuals with rare and undiagnosed diseases.
… his leading efforts to diagnose and treat individuals with rare and undiagnosed diseases. … The Department of Health and Human Services (HHS) … possible treatments for people suffering from unknown and rare genetic conditions. Bill Gahl, M.D, Ph.D., Senior …
For Patients and Families
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
… Neglected diseases are conditions that inflict severe health burdens on … (NIH) launched a new effort, called the Therapeutics for Rare and Neglected Diseases (TRND), program, to create an … to jump start the development of new treatments for rare and neglected disorders. The NIH Office of Rare Diseases …
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.
… medicine. … We have known for a long time that common diseases like heart disease, asthma, cancer, and diabetes can run in families. Rare diseases like hemophilia, cystic fibrosis, and sickle cell …
Policy Issues
Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease areas.
… being applied to research on cancer, mental health, rare diseases, and many other disease areas. … Basic research … is being applied to research on cancer, mental health, rare diseases, and many other disease areas. … Genome …
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… nationwide to begin the second phase of the Undiagnosed Diseases Network (UDN). The total investment planned for the … study developed to improve and accelerate the diagnosis of rare and undiagnosed conditions. The grants will expand the … information to help understand the cause of extremely rare diseases," said Anastasia L. Wise, Ph.D., program …
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
… Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging. … Progeria is an extremely rare genetic disease of childhood characterized by dramatic, … least a half-dozen other genetic disorders, including two rare forms of muscular dystrophy. In addition to its …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… to identify genetic variations that contribute to common diseases including Parkinson's disease. … In most cases … before the age of 30 years. PINK1 appears to be a rare cause of inherited Parkinson's disease. A small …