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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 - also known as Adiposis Dolorosa, Anders' syndrome and Dercum-Vitaut syndrome - is a rare condition … and worsens with movement. Dercum disease is often associated with generalized weakness, depression, and irritability. The condition can also be associated with early congestive heart failure, myxedema (a …
News Release
A repurposed cancer drug appears to reduce the severity of lesions and pain experienced by people with Proteus syndrome
… of lesions and pain experienced by people with Proteus syndrome, a rare genomic disease. The drug, miransertib, was … the drug had a beneficial effect on symptoms of Proteus syndrome," said Leslie Biesecker, M.D., chief of the NHGRI … discovered the gene variant responsible for Proteus syndrome in 2011. "The results were so encouraging that we …
News Release
NHGRI researchers and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans.
… used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans. They … the American Journal of Medical Genetics . … While Noonan Syndrome is relatively common -- affecting between 1 in 1,000 … percent). The researchers evaluated children with Noonan syndrome from 20 countries with an average age of 8 years; …
News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
… genomic mutations for Carey-Fineman-Ziter (CFZS) syndrome, a very rare congenital myopathy (inherited muscle … with CFZS have sometimes been misdiagnosed with Moebius syndrome, another very rare disorder characterized by facial … affected individuals. To identify the genomic mutations associated with CFZS, three laboratories - led separately by …
Educational Resources
AIDS is a collection of symptoms known as acquired immunodeficiency syndrome.
… Acquired Immunodeficiency Syndrome (AIDS) … AIDS is a collection of symptoms known as acquired immunodeficiency syndrome. … RNA (Ribonucleic Acid), Retrovirus Virus … AIDS … collection of symptoms known as acquired immunodeficiency syndrome. It is caused by infection with the human …
News Release
NHGRI researchers have identified a genomic signature for some aggressive prostate tumors, which may help healthcare providers pinpoint treatment options.
… . The new finding focuses on BRCA2 mutations, which are associated with breast and ovarian cancer, but also increase … DNA make-up of an organism at a single time, to look at tumor-specific mutations in aggressive prostate cancer. The …
News Release
NHGRI researchers collaborated with physicians and medical geneticists worldwide to create the Atlas of Human Malformation Syndromes in Diverse Populations.
… families." The first disorders added to the atlas are Down syndrome and 22q11.2 deletion syndrome. Down syndrome is the most common chromosomal condition, affecting …
News Release
NHGRI researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
… to reveal how mutations in a gene called UBA1  are associated with inflammatory diseases … Researchers from the … E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 … E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 …
Genetic Disorders
Colon cancer is a malignant tumor of the large intestine that affects both men and women.
… Colon cancer, a malignant tumor of the large intestine, affects both men and women. In … been identified in this APC gene. Individuals with this syndrome develop many polyps in their colon. People who … individuals who carry the more common gene mutations associated with FAP or HPNCC, such as those listed above. …
News Release
NIH-funded researchers completed the PanCancer Atlas from over 10,000 tumors representing 33 types of cancer.
… by healthy cells (in pink), illustrating a primary tumor spreading to other parts of the body through the … "The PanCancer Atlas effort complements the over 30 tumor-specific papers that have been published by TCGA in the … being expressed, abnormality of chromosome numbers in tumor cells and DNA modifications. The paper's findings …