Genetics
New trial for blindness rewrites the genetic code
Researchers have started a new gene therapy clinical trial to treat X-linked retinitis pigmentosa (XLRP), the most common cause of blindness in young people.
Mar 20, 2017
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News tagged with genetic defect
Genetics
Gene therapy rescues hearing for the first time in aged mouse models
By 2050, one in 10 individuals are expected to live with some form of hearing loss. Of the hundreds of millions of cases of hearing loss affecting individuals worldwide, genetic hearing loss is often the most difficult to ...
May 26, 2023
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Diabetes
Diabetes reversed in mice with genetically edited stem cells derived from patients
Using induced pluripotent stem cells produced from the skin of a patient with a rare, genetic form of insulin-dependent diabetes called Wolfram syndrome, researchers transformed the human stem cells into insulin-producing ...
Apr 22, 2020
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203
Cardiology
Inherited high cholesterol: Can nutrition help?
"My cholesterol is too high," a patient explained. "But I can't help it. It's hereditary." She was right. Her type of high cholesterol is called familial hypercholesterolemia (FH). It's an inherited genetic defect that causes ...
Sep 21, 2020
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Genetics
Researchers suggest a pathway to reverse the genetic defect of Friedreich's ataxia
Scientists at Tufts University have identified a molecular mechanism that could reverse the genetic defect responsible for Friedreich's ataxia, a neurodegenerative disease that leaves its victims with difficulty walking, ...
Jan 6, 2020
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Genetics
'Gene overdose' causes extreme thinness
Scientists have discovered a genetic cause of extreme thinness for the first time, in a study published today in the journal Nature.
Aug 31, 2011
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Genetics
New genetic risk factors discovered for Alzheimer's disease
A large-scale international study has discovered new genetic risk loci for Alzheimer's disease, and researchers published their work in Nature Genetics.
Jan 8, 2019
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Genetics
Scientists use gene editing to correct mutation in cystic fibrosis
Yale researchers successfully corrected the most common mutation in the gene that causes cystic fibrosis, a lethal genetic disorder.
Apr 27, 2015
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3367
Diseases, Conditions, Syndromes
NIH creates Atlas of Human Malformation Syndromes in Diverse Populations
Researchers with the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, have collaborated with physicians and medical geneticists around the world to create the Atlas of Human Malformation ...
Apr 29, 2016
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Genetics
Study finds two genes affect anxiety, behavior in mice with too much MeCP2
The anxiety and behavioral issues associated with excess MeCP2 protein result from overexpression of two genes (Crh [corticotropin-releasing hormone] and Oprm 1 [mu-opioid receptor MOR 1]), which may point the way to treating ...
Jan 8, 2012
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