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  • 'Deep learning' finds autism, cancer mutations in unexplored regions of genome
    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 Initiates Phase 3 Study of ISIS-SMN Rx in Children With 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 ...

  • 'Deep learning' finds autism, cancer mutations in unexplored regions of the genome
    ( 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 Earns Milestone on Study Initiation
    Isis Pharmaceuticals (ISIS) initiated a pivotal phase III study (CHERISH) on ISIS-SMNRx for the treatment of children suffering from spinal muscular atrophy.

  • Ceremony to unite in grief
    ALLANAH Morel lost her son Xavier to spinal muscular atrophy five months ago.

  • Shot of wheelchair actress is prize for IndyStar photographer
    Fishers High School junior Betsy Swetnam has spinal muscular atrophy.                

  • VIDEO: Bluffton Township Fire District donates $19,000 to family in need
      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 ...

  • Girl receives big gift from the Bluffton Township Fire District
    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.

  • Youth beats odds to pursue passion
    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 ...

  • Machine learning reveals unexpected genetic roots of cancers, autism and other disorders
    ( 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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