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Scientists have built a computer model that has uncovered disease-causing mutations in large regions of the genome that previously could not be explored. Their method seeks out mutations that cause changes in 'gene splicing,' and has revealed unexpected genetic determinants of autism, colon cancer and spinal muscular atrophy.
CARLSBAD, Calif., Nov. 25, 2014 /PRNewswire/ -- Isis Pharmaceuticals, Inc. (ISIS) announced today the initiation of a pivotal Phase 3 study evaluating ISIS-SMNRx in approximately 120 non-ambulatory children with spinal muscular atrophy (SMA). SMA is a severe and rare genetic neuromuscular disease characterized by muscle atrophy and weakness. The Phase 3 study, CHERISH, is the second Phase 3 ...
( Canadian Institute for Advanced Research ) Scientists have built a computer model that has uncovered disease-causing mutations in large regions of the genome that previously could not be explored. Their method seeks out mutations that cause changes in 'gene splicing,' and has revealed unexpected genetic determinants of autism, colon cancer and spinal muscular atrophy.
Isis Pharmaceuticals (ISIS) initiated a pivotal phase III study (CHERISH) on ISIS-SMNRx for the treatment of children suffering from spinal muscular atrophy.
ALLANAH Morel lost her son Xavier to spinal muscular atrophy five months ago.
Fishers High School junior Betsy Swetnam has spinal muscular atrophy.
Fighting tears, 12-year-old Jessica Bello struggled to put into words her appreciation for the Bluffton Township Fire District’s donation to her and her family. But the hugs she gave the firefighters, lined up one after another, said enough. Members of the fire district on Wednesday presented Bello, a sixth-grader at Bluffton Middle School, and her family with a check for $19,000 — the amount ...
The money was raised during the 10th annual Boston Butt Fundraiser. Bello suffers from Spinal Muscular Atrophy, a disease that affects the spinal cord and causes muscle wasting. She was also recently diagnosed with Epilepsy.
Udhayakumar was born healthy but tragedy struck him when he was a 11-month-old baby. He was diagnosed with Spinal Muscular Atrophy (SMA), an ailment that affects the neurons of spinal cord and brain stem, slowly arresting the entire body movement. Since then, Udhay, now a 39-year-old man, has been able to move only his thumb and index finger. But he has not given up on life as he has taken to ...
( University of Toronto Faculty of Applied Science & Engineering ) A Canadian research team led by professor Brendan Frey has developed the first method for 'ranking' genetic mutations based on how living cells 'read' DNA, revealing how likely any given alteration is to cause disease. They use a new 'machine learning' computational technique developed at the University of Toronto to discover ...
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