Search Results
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 …
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. …
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 …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
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 …
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.
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 …
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. …