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Latest Rare diseases Stories

2014-01-03 12:23:32

TOWSON, Md., Jan. 3, 2014 /PRNewswire/ -- The Immune Deficiency Foundation (IDF), the national patient organization for persons with primary immunodeficiency diseases, commends the state of Washington for their decision to add Severe Combined Immune Deficiency (SCID) to the list of conditions that all newborns in the state are screened for at birth effective January 1, 2014. SCID is commonly known as "bubble boy disease" after David Vetter, a boy who lived in a germ-free bubble for...

2014-01-02 12:22:31

WASHINGTON, Jan. 2, 2014 /PRNewswire-USNewswire/ -- Numotion, the complex wheelchair company committed to serving the lifelong needs of people through individualized health and mobility solutions, has partnered with The ALS Association to offer support and enhance the quality of life for individuals affected by amyotrophic lateral sclerosis (ALS). (Logo: http://photos.prnewswire.com/prnh/20131211/MM32178LOGO) ALS, commonly known as Lou Gehrig's Disease, is a progressive...

2013-12-30 12:21:41

BETHESDA, Md., Dec. 30, 2013 /PRNewswire-USNewswire/ -- Since the National Human Genome Project first revealed the human genome sequence, work began in earnest on how to apply this remarkable new knowledge to patient care. In an important step in helping current physicians and other healthcare professionals who are not board-certified geneticists to understand genomics in the clinical setting, the American College of Medical Genetics and Genomics (ACMG) has just created a series of...

2013-12-18 11:47:56

Dopamine-producing cells die as result of cascade triggered by busy enzyme degradation cellular machines Scientists have identified the biological pathway that explains Gaucher disease (GD) patients' higher risk for developing Parkinson's disease (PD), according to research to be presented Tuesday, Dec. 17, at the American Society for Cell Biology annual meeting in New Orleans. GD is a hereditary disease in which the genes that encode the enzyme glucocerebrosidase are mutated, resulting...

2013-12-11 12:12:42

A range of studies highlighting late-breaking research advances in the understanding and treatment of blood cancers and bleeding disorders are being presented today during the 55th American Society of Hematology Annual Meeting and Exposition in New Orleans. State-of-the-art genetic sequencing and analytics tools are being employed in medical research to gain an unprecedented understanding of disease mechanisms and treatments. In the search to improve understanding of disease, two studies...

2013-12-10 10:29:34

A team led by a longtime Oregon Health & Science University researcher has demonstrated in mice what could be a revolutionary new technique to cure a wide range of human diseases — from cystic fibrosis to cataracts to Alzheimer's disease — that are caused by "misfolded" protein molecules. Misfolded protein molecules, caused by gene mutation, are capable of maintaining their function but are misrouted within the cell and can’t work normally, thus causing disease. The OHSU team...


Word of the Day
omadhaun
  • A fool; a simpleton: a term of abuse common in Ireland and to a less extent in the Gaelic-speaking parts of Scotland.
This word is partly Irish in origin.