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News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."
… On March 3, 2017, in honor of Rare Disease Day , a day celebrated worldwide to raise awareness for rare diseases, experts from the UDN turned to Reddit - a social … by mysterious conditions. On March 3, 2017, in honor of Rare Disease Day , a day celebrated worldwide to raise …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease. Researchers … NIH researchers use a new cell model of a rare disease to develop therapeutic compounds … a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease. …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… used facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. … analysis for a possible diagnosis of DiGeorge syndrome, a rare disease. Credit: Paul Kruszka, et al. The researchers … of physical traits of people with many different inherited diseases around the world, including Asia, the Indian …
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
… decreases the risk of stroke in children with a rare genetic disease called DADA2 (deficiency of adenosine … with DADA2 and other autoimmune and autoinflammatory diseases. Researchers published their findings in the April … in strokes. Image Credit: Darryl Leja, NHGRI. DADA2 is a rare disease that presents in childhood, even in children …
News Release
In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.
… and his colleagues described and named the children's very rare disease, Carey-Fineman-Ziter syndrome (CFZS). … of helping everyone else affected by CFZS and similar diseases in the future," said Mr. Hanson. "We've come a long … Decades after rare disease diagnosis, family and physician hail genomic …
For Patients and Families
List of resources to help you find accurate and reliable information on genetic and rare diseases.
… Finding accurate and reliable information on genetic and rare diseases among the millions of online sources is a difficult … National Human Genome Research Institute or the Office of Rare Diseases at the National Institutes of Health. We cannot … Human Genome Research Institute (NHGRI) and the Office of Rare Diseases Research (ORDR) Web sites provide helpful …
News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
… National Institutes of Health researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - … (NHGRI), the National Institute of Allergy and Infectious Diseases, the National Institute of Arthritis and … the United Kingdom. The just-discovered otulipenia is a rare and sometimes lethal inflammatory disease that causes …
News Release
Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new neurological condition characterized by issues with motor coordination and speech.
… Human Genome Research Institute (NHGRI) and Undiagnosed Diseases Program (UDP) identified three children with the … cellular processes like autophagy,” said Malicdan. A rare disease that involves changes in one gene can help tease … disorders, such as Alzheimer’s disease. Knowledge of this rare neurological disorder could lead to new avenues of …
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. …
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 …