The most common form of heritable cognitive impairment is Fragile X Syndrome, caused by mutation or malfunction of the FMR1 gene. Loss of FMR1 function is also the most common genetic cause of autism. Understanding how this ...
Oct 30, 2011
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Inherited retinal diseases (IRDs), single-gene disorders affecting the retina, are very difficult to diagnose since they are uncommon and involve changes in one of many candidate genes. Outside specialist centers, there are ...
Jun 9, 2023
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Early childhood seizures result from a rare disease that begin in the first months of life. Researchers at University of Utah Health have developed high-tech tools to uncover the genetic cause of the most difficult to diagnose ...
Aug 13, 2018
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Scientists at the Stowers Institute for Medical Research have reported a detailed description of how function-impairing mutations in polr1c and polr1d genes cause Treacher Collins syndrome (TCS), a rare congenital craniofacial ...
Jul 22, 2016
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Over the last 15 years, researchers at the Stanley Center for Psychiatric Research at the Broad Institute of MIT and Harvard have been working to decode the biological causes of schizophrenia, which affects 20 million people ...
Apr 7, 2022
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Mutations in the ATM gene may increase the hereditary risk for pancreatic cancer, according to data published in Cancer Discovery, the newest journal of the American Association for Cancer Research.
Dec 29, 2011
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Scientists have discovered a genetic cause of extreme thinness for the first time, in a study published today in the journal Nature.
Aug 31, 2011
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Members of a Tunisian family with tumors on their hands, feet and eyes may provide helpful information for the treatment of squamous cell carcinoma, a common skin cancer.
Jun 24, 2015
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Scientists at Dana-Farber Cancer Institute have identified a gene mutation that underlies the vast majority of cases of Waldenstrom's macroglobulinemia, a rare form of lymphoma that has eluded all previous efforts to find ...
Dec 12, 2011
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(Medical Xpress) -- Excessive noise is not the only thing that causes damage to hearing. In many cases, genetic factors are responsible for the loss of hearing at a young age. Researchers at the Max Planck Institute for Molecular ...
May 30, 2011
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