Search Results
Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
… Dercum disease is a rare condition that is characterized by … Dercum disease - also known as Adiposis Dolorosa, Anders' syndrome and Dercum-Vitaut syndrome - is a rare condition that is characterized by multiple, painful … pain that can be severe and sometimes debilitating. Dercum disease is a chronic condition, meaning that it is a long …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… Wilson disease is a rare genetic condition that causes a person's … Wilson disease is a rare genetic condition that affects about one in 30,000 people. Wilson disease causes a person's body to store too much of the … Wilson disease may affect several of the body's systems. Either the …
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 - that primarily affects young children. … the United Kingdom. The just-discovered otulipenia is a rare and sometimes lethal inflammatory disease that causes …
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 deaminase type … The disease results when a malfunctioning gene hampers a person's … in strokes. Image Credit: Darryl Leja, NHGRI. DADA2 is a rare disease that presents in childhood, even in children …
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 … by mysterious conditions. On March 3, 2017, in honor of Rare Disease Day , a day celebrated worldwide to raise …
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.
… misdiagnosed the children with Moebius Syndrome, a disease characterized by facial paralysis. "My sister Tonya … and his colleagues described and named the children's very rare disease, Carey-Fineman-Ziter syndrome (CFZS). … old.</p> <p>In addition to participating in research, Mr. Hanson also pays it forward with his website -- …
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… (NIH), clinical researchers at the National Human Genome Research Institute (NHGRI) are leading a new era in medicine … a more profound understanding of the biological basis of disease will pave the way for more effective ways to … clinical research endeavors extend far beyond searches for disease genes. researchers are studying knock-in mouse with …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… The Genetic Disease Research Branch studies the mechanisms by which genetic … structure and function of gene products leading to human disease. … A major focus of the branch's research lies in understanding how disruptions in signaling pathways and transcription factors contribute to disease. Our investigators use genetics and genomic …
For Patients and Families
List of resources to help you find accurate and reliable information on genetic and rare diseases.
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… Finding accurate and reliable information on genetic and rare diseases among the millions of online sources is a … specific tests and products by the National Human Genome Research Institute or the Office of Rare Diseases at the National Institutes of Health. We cannot …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… that shows promise as a possible treatment for the rare Gaucher disease and the more common Parkinson's disease. Ellen … a senior investigator with NIH's National Human Genome Research Institute (NHGRI), and her collaborators at the … Intramural Research . "It demonstrates how insights from a rare disorder such as Gaucher disease can have direct …