Johns Hopkins Medicine researchers have mapped out the cellular pathway that connects the most common genetic mutation associated with Parkinson's disease to brain cell death. In a new study, they show that the mutation initiates ...
Oct 27, 2020
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A new study by researchers at UC Santa Cruz shows how a genetic mutation throws off the timing of the biological clock, causing a common sleep syndrome called delayed sleep phase disorder.
Oct 27, 2020
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Scientists report that the combined effects of rare, damaging mutations present at birth have a negative impact on healthspan and longevity, according to a study published this week in eLife.
Apr 9, 2020
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An emergency room physician, initially unable to diagnose a disoriented patient, finds on the patient a wallet-sized card providing access to his genome, or all his DNA. The physician quickly searches the genome, diagnoses ...
Feb 12, 2020
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A common mutation in a key enzyme involved in alcohol metabolism increases damage in cells from patients with Alzheimer's disease and in mice, according to a study by researchers at the Stanford University School of Medicine.
Dec 11, 2019
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Cystic Fibrosis (CF) in Puerto Rico and the Dominican Republic is dominated by unusual gene mutations not often observed in previously studied CF populations, according to comprehensive genome sequencing led by physician-scientists ...
Nov 1, 2019
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Treatment for individuals who experience psychosis, such as hallucinations and delusions as a result of a psychiatric illness, can be targeted to a specific structural mutation, according to a study published by researchers ...
Jul 3, 2019
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It turns out undigested collagen blocking growing gland cells might sometimes be causing the blackheads seen in common acne, not just excess sebum, as had long been assumed. After the publication of a 2018 paper, researchers ...
Mar 19, 2019
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A pair of studies led by University of North Carolina Lineberger Comprehensive Cancer Center researchers could aid in improved diagnosis for melanoma, the deadliest form of skin cancer.
Mar 5, 2019
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An international team of scientists have confirmed that both rare and common mutations of our genes are linked to the development of breast cancer, including tumour characteristics and corresponding deadliness. Interestingly, ...
Nov 2, 2018
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