In the United States, a baby is born with a facial cleft every hour, of every day of the year! Such birth defects result from both gene mutations and environmental insults. PRDM16 is a transcription factor originally described ...
May 2, 2012
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As the body ages, the physical effects are notable; wrinkles in the skin appear, physical exertion becomes harder. But there are also less visible processes going on. Inside aging brains there is another phenomenon at work, ...
Apr 8, 2013
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Researchers at the Francis Crick Institute and UCL have identified a gene that causes heart defects in Down syndrome, a condition that results from an additional copy of chromosome 21.
Jan 24, 2024
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(Medical Xpress) -- Cystic fibrosis is the most common fatal genetic disease affecting Canadian children and young adults, more than two children each and every week are diagnosed with cystic fibrosis (CF). New research at ...
Mar 28, 2012
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Scientists at the Children's Medical Center Research Institute at UT Southwestern (CRI) are using a new approach to pinpoint the causes of rare genetic diseases in children and identify treatment options faster than with ...
Apr 30, 2019
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A mutation in a gene crucial to normal heart development could play a role in some types of congenital heart disease—the most common birth defect in the U.S. The finding, from a team in The Research Institute at Nationwide ...
Jul 29, 2013
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A team of scientists has determined why some children who are born with heart defects also often have developmental disabilities such as problems with speech and muscle coordination. The research, led by Howard Hughes Medical ...
Dec 3, 2015
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A new study has definitively shown that a single treatment with gene therapy using adeno-associated viral (AAV) vector gene delivery to replace the defective gene responsible for congenital adrenal hyperplasia (CAH) will ...
Mar 29, 2018
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(Medical Xpress)—A fresh round of trials to evaluate gene therapy for the heart is set to begin in a couple of weeks. The British Heart Foundation will be sponsoring the study, which seeks to replace defective calcium pump ...
A defect in a gene that produces dopamine in the brain appears to accelerate the onset of Parkinson's disease, according to new research from Iowa State University. The effect is particularly dramatic for people under age ...
Nov 28, 2016
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