Genetics
Study discovers gene that causes devastating mitochondrial diseases
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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Page 3 - News tagged with genetic metabolic disorder
Genetics
Severe congenital disorder successfully treated in a mouse model for the first time
Using a mouse model, Heidelberg University Hospital researchers have for the first time successfully treated a severe congenital disorder in which sugar metabolism is disturbed. The team headed by Prof. Christian Korner, ...
Dec 22, 2011
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Obstetrics & gynaecology
Genetic evidence suggests men can develop PCOS-like condition
New genetic research suggests men can develop characteristics of polycystic ovary syndrome (PCOS)—a common metabolic and reproductive disorder that affects women. The study was presented virtually at ENDO 2021, the Endocrine ...
Mar 20, 2021
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Psychology & Psychiatry
Gene testing doesn't add much information for antidepressant or antipsychotic prescribing
Pharmacogenetic tests are marketed as an aid to psychiatrists in selecting the antidepressant or antipsychotic medication that will work best in individual patients, based on their genetic makeup. But for most patients, these ...
Nov 20, 2018
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Genetics
New atlas of molecules paves the way for improved understanding of metabolic diseases
In the most comprehensive exploration of the association between genetic variation and human metabolism, researchers have provided unprecedented insights into how genetic variants influence complex disease and drug response ...
May 11, 2014
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Genetics
Symptoms of Prader-Willi syndrome associated with interference in circadian, metabolic genes
Researchers with the UC Davis MIND Institute and Agilent Laboratories have found that Prader-Willi syndrome—a genetic disorder best known for causing an insatiable appetite that can lead to morbid obesity—is associated ...
Jun 25, 2013
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Medical research
Fetal gene therapy prevents fatal neurodegenerative disease
A fatal neurodegenerative condition known as Gaucher disease can be prevented in mice following fetal gene therapy, finds a new study led by UCL, the KK Women's and Children's Hospital and National University Health System ...
Jul 16, 2018
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Genetics
Large international study finds 21 genes tied to cholesterol levels
In the largest-ever genetic study of cholesterol and other blood lipids, an international consortium has identified 21 new gene variants associated with risks of heart disease and metabolic disorders. The findings expand ...
Oct 11, 2012
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Genetics
A scanner for hereditary defects
Our genetic material is constantly exposed to damage, which the body's own proteins normally repair. One of these proteins works like a scanner, continually scouring the genetic material for signs of damage. Researchers from ...
Jan 24, 2013
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Pediatrics
Parents seen as critical stakeholders in expanding newborn screening
Parents must be considered when states decide to expand genetic screening programs for newborns, according to a new study that looked at mandatory testing panels and political pressure by advocacy groups.
Jun 21, 2012
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