Every year, thousands of babies are born with severely malformed hearts, disorders known collectively as congenital heart disease. Many of these defects can be repaired though surgery, but researchers don't understand what ...
May 12, 2013
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A multi-institutional study has discovered spontaneous mutations in RNF2 (RING2) gene as the underlying cause of a novel neurological disorder. This Undiagnosed Diseases Network (UDN) study was led by Dr. Shinya Yamamoto, ...
Jul 8, 2021
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Lennox-Gastaut syndrome is a severe early-onset seizure disorder that includes cognitive and behavioral abnormalities. Its pathophysiology is largely unknown.
Jun 26, 2020
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"Doctor, what caused my cancer?" For doctors, this question is often perplexing. Some of the population risk factors are known, but when it comes to specific cases, only assumptions can be made. However, scientists have a ...
Jul 19, 2017
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The types of gene mutations that contribute to autism are more diverse than previously thought, report researchers at University of California, San Diego School of Medicine in the March 24 online issue of The American Journal ...
Mar 24, 2016
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In late December, nearly two years after the epidemic began, the World Health Organization has declared the African country of Guinea to be free of Ebola virus infections. But, the race to find a cure and therapies to combat ...
Jan 5, 2016
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Spontaneous mutations in the brain gene TBR1 disrupt the function of the encoded protein in children with severe autism. In addition, there is a direct link between TBR1 and FOXP2, a well-known language-related protein. These ...
Sep 18, 2014
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(Medical Xpress)—Exploiting individual genomes for personalized medicine may be more complicated than medical scientists have suspected, researchers at Virginia Bioinformatics Institute have discovered.
Jun 24, 2014
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Dravet syndrome is a rare and severe form of epilepsy caused primarily by inherited loss-of-function mutations in a gene called SCN1A. This gene encodes a sodium ion channel known as Nav1.1 and is required for the proper ...
Sep 20, 2013
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HGPS is a rare genetic disease that affects one in every 4-8 million births. The disease is caused by a spontaneous mutation in one of the two copies (alleles) of the gene LMNA, which codes for lamin A, a protein important ...
Jun 17, 2013
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