Sentences with phrase «human genetic diseases»
His research interests are largely focused upon elucidating the mechanisms of mutagenesis underlying human genetic disease, but include genotype — phenotype relationships in various inherited conditions, as well as human evolutionary and population genetics.
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Unexplained cases of spontaneous reversions also appear in human genetic diseases, although the natural frequency of such events is unclear.
About half of the 32,000 mutations associated with human genetic diseases are this type of C - G to T - A change, says Liu, a Howard Hughes Medical Institute investigator at Harvard University.
The study is «a beautiful example of the use of isolated populations to study human genetic disease,» observes geneticist Val Sheffield of the University of Iowa in Iowa City, but he cautions that it's premature to talk about a cure for the disease.
The Coriell Institute for Medical Research is a not - for - profit research organization «dedicated to understanding human genetic diseases and providing the highest quality genetic resources».
Dr. Conklin's research focuses using genome engineering to find therapies for life threatening human genetic diseases.
My clinical responsibilities now include part - time direction of a hospital molecular genetics lab that specializes in the diagnosis of human genetic diseases and hematologic malignancies — a return to my early research interest in human genetics.
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
As a result, researchers have been able to develop thousands of mouse strains with mutations that mirror those seen in human genetic disease.
Research must be directed towards the diagnosis, prevention, and cure of human genetic diseases.
Dr. Funari's scientific career spans two decades developing or encompassing new genomic approaches to unfold new mysteries of human genetic diseases.
In a series of studies this year, molecular geneticists at the University of Pittsburgh School of Medicine used a harmless virus to ferry new genes through the bloodstream, across blood vessel walls, and into almost every muscle cell in the bodies of hamsters bred to have human genetic diseases.
A new study now highlights a previously unappreciated causal role for the regulation of mitochondrial turnover in the defects of neuronal development that underlie the human genetic disease Wolfram syndrome.
His primary research focuses on human transposable elements, including both their molecular biology and their relationship to human genetic diseases.
Our work has implications for two human genetic diseases, which are caused by mutations in the ATP7B and ATP7A genes and lead to copper overload in the liver (Wilson Disease), due to the failure to excrete copper into the bile, and copper deficiency in many organs (Menkes Disease), due to the failure to deliver intestinal copper to the blood.
Human genetic diseases with DNA repair defects such as Huchinson - Gilford Progeria all show premature aging.
Just as PRA is the canine version of human RP (retinitis pigmentosa), CD is the canine version of the human genetic disease achromatopsia — total color blindness and day - blindness.