In Leigh syndrome, infants are born apparently healthy only to develop movement and breathing disorders that worsen over time, often leading to death by the age of 3. The problem is that the mitochondria responsible for powering ...
Sep 6, 2011
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Many diseases are caused by genetic defects. However, their severity can vary among individual patients, so that even mild forms can occur. Scientists at the Max Planck Institute for Heart and Lung Research in Bad Nauheim ...
Apr 10, 2019
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University of Florida Health researchers have identified genes that are disrupted by abnormal hormone signaling at crucial points during development, a finding that may lead to a better understanding of how the most common ...
Nov 23, 2015
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A series of papers published recently by two teams of vision researchers at the University at Buffalo and the University of Alabama at Birmingham (UAB) is revealing important new information about the possible cause of a ...
Jun 24, 2020
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The first birth has been achieved following the analysis of embryos using a new genome sequencing technique which promises to revolutionise embryo selection for IVF. The technique, which has never before been applied in the ...
Jul 7, 2013
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New insight on the link between a gene called SORBS2 and congenital heart disease has been published today in eLife, with findings that may help explain the cause of the disease in some patients.
Jun 8, 2021
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In a paper published today in Diabetologia, a team at Joslin Diabetes Center, headed by Mary R. Loeken, PhD, has identified the enzyme AMP kinase (AMPK) as key to the molecular mechanism that significantly increases the risk ...
Oct 17, 2011
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Researchers from the University of Colorado Anschutz Medical Campus, in collaboration with several other institutions, have discovered a genetic defect linked to Biliary atresia (BA), the most common pediatric cause of end-stage ...
Feb 21, 2019
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It was a medical mystery: When University of Pittsburgh School of Medicine scientists induced a particular genetic mutation in mouse eggs, the resulting embryos would all die in the womb within a week.
Feb 15, 2022
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Gene therapy for spinal muscular atrophy might have a high up-front price tag. But by screening and treating infants early, the therapy can save both lives and money in the long term.
Aug 3, 2021
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