by Abbey Bigler, Broad Institute of MIT and Harvard Epilepsy is one of the most widespread neurological disorders, but relatively little is known about the genes involved in the more common types. By examining all the genes of over 17,000 people, an international research group has found that more and less severe forms of epilepsy may...
Tag: <span>genetic diseases</span>
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Autism Is Largely Genetics Than Environmental, New Study Finds
By Rubi Valdez Tech Times A new study finds evidence proving that autism spectrum disorder or ASD is largely due to genetics, not environmental, discrediting claims that it is vaccine-related. The largest study of its kind involving more than 2 million people from five countries showed that ASD risk if 80 percent reliant on genes. The...
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In fluke experiment, espresso quells rare genetic disease
A lot of people say they cannot live without coffee, but for one 11-year-old boy living in France, that may be literally true. When his parents accidentally bought decaffeinated capsules recently, a rare genetic muscular disorder—which they knew could be held in check by two shots of espresso per day—flared up, provoking uncontrollable and painful...
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Québec siblings with rare orphan disease lead to discovery of rare genetic diseases
Mutations in a gene involved in brain development have led to the discovery of two new neurodevelopmental diseases by an international team led by researchers at McGill University and CHU Sainte-Justine Research Center. The first clues about the rare disorder arose after doctors were unable to diagnose why two siblings from Québec City were experiencing seizures and neurodevelopmental deficits. Desperate, the children’s family turned to...
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Researchers give new insight to muscular dystrophy patients
New research by University of Minnesota scientists has revealed the three-dimensional structure of the DUX4 protein, which is responsible for the disease, facioscapulohumeral muscular dystrophy (FSHD). Unlike the majority of genetic diseases, FSHD is not caused by a protein that is missing or not functioning properly. Rather it is caused when a functioning, normal, protein...
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DNA damage leads to genetic diseases and cancer
Scientists revealed how DNA damage influences mutations. Turned out that its contribution to mutagenesis was underestimated and many of the inheritance mutations are caused not by errors in DNA doubling, but by damage to this fragile molecule. The study was conducted by an international research group and published in Nature Genetics. Unfortunately, the reasons for...
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Data Mined Insurance Records Point to Interesting Disease Relationships
Data about who has what disease holds a lot of clues about the diseases themselves and their causes. Researchers at the University of Chicago undertook a data mining effort to figure out what genetic and environmental patterns that a few dozen common diseases share with each other. The team gathered data from insurance claims related...
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Technique dramatically speeds research into cancer, genetic diseases
Associate Professor of Pharmacology J. Julius Zhu led the team that created the new technique. A new technique developed at the University of Virginia School of Medicine will let a single cancer research lab do the work of dozens, dramatically accelerating the search for new treatments and cures. And the technique will benefit not...
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