Genetic researchers at Nagoya University, Japan, have delved into the genetic underpinning of a rare skin condition affecting children that is unusually common in Japan.
Families living with four extremely rare neurodegenerative diseases have finally learned the cause of their illnesses, thanks to a researcher's hunch and decades of improvements in DNA sequencing technology.
Jul 22, 2019
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The most common mutation in the human genome is the C>T mutation, which causes half of all genetic diseases resulting from point mutations. For example, the one causing Hutchinson-Gilford progeria syndrome, a genetic disease ...
Jun 2, 2022
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A team led by researchers at Broad Institute of MIT and Harvard, Dana-Farber Cancer Institute, and Harvard Medical School has developed a new method to identify thousands of DNA mutations accurately and efficiently in a patient's ...
Mar 18, 2022
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A collaborative study involving Baylor College of Medicine, the University of Cambridge and the University of Exeter Medical School reveals a new gene associated with obesity and maladaptive behavior. The evidence shows that ...
Dec 19, 2022
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Autism Spectrum Disorder (ASD) is referred to as a "spectrum" because clinical features of ASD range from mild social impairments in some people to severe intellectual disability or epilepsy in others. Genetic studies have ...
Jun 2, 2022
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A study published in Nature Genetics today has found new evidence for a link between the body clock hormone melatonin and type 2 diabetes. The study found that people who carry rare genetic mutations in the receptor for melatonin ...
Jan 29, 2012
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A rare disease first identified in 2020 is much more common than first thought, say researchers at the University of Leeds investigating its origins.
Mar 11, 2021
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Queensland researchers have led an international effort to uncover the gene behind a young Brisbane boy's rare developmental condition, in a discovery his family hopes will pave the way for future treatments.
Nov 25, 2014
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Scientists have found that insulin has met an evolutionary cul-de-sac, limiting its ability to adapt to obesity and thereby rendering most people vulnerable to Type 2 diabetes.
Nov 6, 2020
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