News tagged with genetic mutations

Cellular channels vital for hearing identified

Ending a 30-year search by scientists, researchers at Boston Children's Hospital have identified two proteins in the inner ear that are critical for hearing, which, when damaged by genetic mutations, cause a form of delayed, ...

Jul 18, 2013
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Gene mutation linked to obesity

Researchers at Boston Children's Hospital have identified a genetic cause of severe obesity that, though rare, raises new questions about weight gain and energy use in the general obese population. The research, published ...

Jul 18, 2013
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Mutation linked to congenital urinary tract defects

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 ...

Jul 17, 2013
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Clinical trials for cancer, one patient at a time

Columbia University Medical Center (CUMC) researchers are developing a new approach to cancer clinical trials, in which therapies are designed and tested one patient at a time. The patient's tumor is "reverse ...

Jul 15, 2013
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Leukemia-associated mutations almost inevitable as we age

It is almost inevitable that we will develop genetic mutations associated with leukaemia as we age, according to research published today in Cell Reports. Based on a study of 4219 people without any evidence of blood cancer ...

Feb 26, 2015
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Crowdfunding helps solve rare disease mystery

Rare diseases—those that affect fewer than one in 200,000 people—are often identified early in life. Some 30 percent of children afflicted by these "orphan diseases" do not live to see their fifth birthday. ...

Feb 10, 2015
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