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Latest Rare diseases Stories

Genetic Mutation Linked Congenital Heart Defect
2013-07-30 08:39:37

April Flowers for redOrbit.com - Your Universe Online A team of scientists from The Research Institute at Nationwide Children'sHospital has found a mutation in a gene crucial to normal heart development could play a role in some types of congenital heart defects - the most common birth defect in the US. The findings were published in the journal Human Mutation and could help narrow the search for genes that contribute to this genetic defect, which affects as many as 40,000 newborns a year....

2013-07-23 23:04:05

Key Stakeholders in Rare Disease Community to Discuss the New Era in Health Care Bethesda, MD (PRWEB) July 23, 2013 Patient advocates, industry leaders, researchers, regulatory officials, investors and thought leaders dedicated to advancing the development of and access to therapies for rare diseases will come together for the third annual U.S. Conference on Rare Diseases and Orphan Products, held in Bethesda, Oct. 7–9. The conference is hosted by DIA and the National Organization for...

2013-07-18 11:17:26

Findings point to new diagnostic category Researchers at Columbia University Medical Center (CUMC) and collaborators have identified a genetic mutation that causes congenital malformations of the kidney and urinary tract, a common form of birth defect and the most common cause of kidney failure in children. It is the first time that a specific genetic mutation has been linked to a non-syndromic form of urinary tract malformation. The findings were published in the July 17 online issue of...

Two Genetic Diseases Cured Through HIV
2013-07-12 05:01:10

[ Watch the Video: Gene Therapy Used By San Raffaele Telethon Institute For Gene Therapy ] redOrbit Staff & Wire Reports - Your Universe Online The virus that causes AIDS has been used to cure a pair of different genetic diseases, according to research published Thursday in the journal Science. In the studies, Luigi Naldini, director of the San Raffaele Telethon Institute for Gene Therapy (TIGET) in Italy, and his colleagues report they successfully used HIV to cure metachromatic...


Word of the Day
callithump
  • A somewhat riotous parade, accompanied with the blowing of tin horns, and other discordant noises; also, a burlesque serenade; a charivari.
'Callithump' is a back-formation of 'callithumpian,' a 'fanciful formation' according to the Oxford English Dictionary. However, the English Dialect Dictionary, says 'Gallithumpians' is a Dorset and Devon word from the 1790s that refers to 'a society of radical social reformers' or 'noisy disturbers of elections and meetings.'
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