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Educational Resources
Progeria is a rare disease characterized by accelerated aging.
… Progeria is a rare disease characterized by accelerated aging. … Progeria is a rare disease characterized by accelerated aging. The classic … Progeria is a rare disease characterized by accelerated aging. …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… skin problems; kidney stones, gallstones or other diseases of the liver and biliary system. Both men and women … colectomy for uncontrolled bleeding, this is increasingly rare in Crohn's, especially with new immune therapies. … Disease Crohn's Disease in Children and Teens Genetics and Rare Diseases Information Center Finding Reliable Health …
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 … was launched to build on the success of the Undiagnosed Diseases Program (UDP) at the NIH Clinical Center. "The UDN …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… Many human diseases have a genetic component. Some of these conditions … This list of genetic, orphan and rare diseases is provided for informational purposes only and is … set of human genes), we are learning that nearly all diseases have a genetic component. Some diseases are caused …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
… Huntington’s disease is a rare inherited disorder associated with the progressive loss …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
News Release
Researchers at the National Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment.
… colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as … Institute of Arthritis and Musculoskeletal and Skin Diseases and the National Institute of Allergy and Infectious … leading to reduced mobility. Because the disorder is so rare, its genetic cause had not been identified until now. …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… in DNA that correlate with autoimmune and inflammatory diseases. They found novel DNA changes that are correlated … Institute of Arthritis and Musculoskeletal and Skin Diseases Last Updated: February 7, 2017 …