A teenager whose battle with a rare genetic condition that accelerates the aging process became the subject of an HBO documentary has died. Sam Berns was 17.
Jan 13, 2014
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A CHEO-led multi-site North American study, headed by Dr. Robert Klaassen, lead investigator at CHEO and associate professor in the University of Ottawa's Department of Pediatrics, has confirmed the validity and reliability ...
Nov 4, 2013
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A long-term study of children with a complex heart condition called hypertrophic cardiomyopathy (HCM) found that the risk of death or need for immediate listing for heart transplantation was greatest for those who developed ...
Sep 3, 2013
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(Medical Xpress)—Queensland Institute of Medical Research, Griffith University and University of Queensland scientists researching a degenerative brain disease have developed a new way to understand its progression and ...
Mar 22, 2013
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(Medical Xpress)—Scientists at the Medical Research Council (MRC) Laboratory of Molecular Biology have found that stem cells in the body's 'blood cell factory'—the bone marrow—are extremely sensitive to the main breakdown ...
Aug 27, 2012
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Deleting a single gene in the cerebellum of mice can cause key autistic-like symptoms, researchers have found. They also discovered that rapamycin, a commonly used immunosuppressant drug, prevented these symptoms.
Jul 2, 2012
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Researchers at Mount Sinai School of Medicine in New York have found new clues in the pathogenesis of skull and skin birth defects associated with a rare genetic disorder, Beare-Stevenson cutis gyrata syndrome (BSS). Using ...
May 15, 2012
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Scientists led by Washington University School of Medicine in St. Louis have identified the first gene directly linked to the most common form of psoriasis, a chronic skin condition.
Apr 19, 2012
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Doctors in Pakistan are fighting to save the life of a baby boy born with six legs because of a rare genetic condition, hospital officials said Monday.
Apr 16, 2012
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A family suffering from a rare genetic condition in which hair grows all over the face arrived in the Nepalese capital of Kathmandu on Sunday for treatment of their "werewolf-like" appearance.
Mar 25, 2012
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