U.S. health officials on Tuesday approved the nation's first gene therapy for an inherited disease, a treatment that improves the sight of patients with a rare form of blindness. It marks another major advance for the emerging ...
Dec 19, 2017
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A newly discovered biomarker associated with a rare metabolic disorder may facilitate better diagnosis and identification of new drugs for clinical trials for the disease, according to researchers in the Perelman School of ...
Aug 7, 2017
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Meeting a young patient with Zellweger syndrome, a rare, life-threatening genetic disease, started a scientific investigation that culminated with an unexpected discovery. The condition, also known as peroxisomal biogenesis ...
Jun 22, 2017
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Researchers from the Duke-NUS Graduate Medical School Singapore (Duke-NUS) and Duke Medicine have identified a potential treatment strategy for an often-fatal inherited glycogen storage disease.
Nov 18, 2015
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In the first study of its kind, Penn researchers have shown how an anti-diabetic drug can have variable effects depending on small natural differences in DNA sequence between individuals. Mitchell Lazar, MD, PhD, Raymond ...
Jul 2, 2015
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Scientists at the RIKEN Center for Life Science Technologies have used PET imaging to visualize the distribution in the body of copper, which is deregulated in Menkes disease, a genetic disorder, using a mouse model. This ...
Mar 26, 2014
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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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Researchers have identified a novel disease gene in which mutations cause rare but devastating genetic diseases known as mitochondrial disorders.
Aug 29, 2013
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While it is well known that there is a strong genetic basis to both diabetes and obesity, and that they are linked, Australian researchers say that there are many rare genetic variants involved, which will pose a significant ...
Aug 7, 2013
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(HealthDay)—You may never have heard of aniridia, a genetic disorder that robs people of their vision. But researchers studying the condition say it could give insight into some common health problems—from cataracts and ...
Aug 2, 2013
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