Researchers working with mice believe there's hope for patients with a rare genetic disorder that turns their muscle into bone, in essence immobilizing them in an extra skeleton.
Sep 2, 2015
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Researchers at the Translational Genomics Research Institute (TGen) have identified a genetic mutation associated with the appearance of premature aging and severe loss of body fat in children.
Jul 16, 2015
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Researchers in Malaysia have analysed the genomes of people with a rare genetic disorder to better understand their predisposition to cancer across generations.
May 27, 2015
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UC Davis investigators have settled a long-standing controversy surrounding the molecular basis of an inherited disorder that historically affected Ashkenazi Jews from Eastern Europe but now also arises in other populations ...
Apr 27, 2015
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Researchers at the University of Illinois at Chicago have identified a genetic variation that in women significantly increases their risk of developing multiple sclerosis.
Mar 4, 2015
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Ian Duncan is a Scotsman with the iron discipline and stamina of a competitive marathoner, triathlete and cross-country skier. As a neuroscientist at the School of Veterinary Medicine at the University of Wisconsin-Madison, ...
Jan 22, 2015
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The first nationwide project to genetically diagnose rare diseases will pave the way for translating advances in genomics into patient care in the NHS. Deciphering Developmental Disorders (DDD), a collaboration between the ...
Dec 16, 2014
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Paulina Bobadilla was beyond desperate. The drugs no longer stopped her daughter's epileptic seizures and the little girl had become so numb to pain, she would tear off her own fingernails and leave her small fingers bleeding.
Nov 24, 2014
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A study has discovered the molecular mechanism that triggers homocystinuria, which is a rare disease that causes vascular and ocular disorders, skeletal deformities and mental retardation. It affects 1 in every 250,000 children ...
Nov 20, 2014
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Audrey Lapidus adored her baby's sunny smile and irresistible dimples, but grew worried when Calvin did not roll over or crawl by 10 months and suffered chronic digestive problems. Four neurologists dismissed his symptoms ...
Oct 19, 2014
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