Researchers led by a team at Baylor College of Medicine have identified a novel neurodevelopmental disorder associated with mutations or deletions affecting a gene called PAX5. Their findings are published in the journal ...
Jan 31, 2022
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Myelin, a sheath of insulation around nerves that enables electrical impulses to efficiently travel through the central nervous system, is diminished in mice that have a gene deletion associated with autism spectrum disorder, ...
Dec 21, 2021
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A genetic study has identified neuronal abnormalities in the electrical activity of cortical cells derived from people with a rare genetic disorder called 22q11.2 deletion syndrome. The overexpression of a specific gene and ...
Sep 28, 2020
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Nearly 10 years ago, a group of Israeli clinical researchers emailed Lawrence Berkeley National Laboratory (Berkeley Lab) geneticist Len Pennacchio to ask for his team's help in solving the mystery of a rare inherited disease ...
Jul 10, 2019
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A young girl with severe neurological symptoms finally has a diagnosis, following the discovery by the Translational Genomics Research Institute (TGen) of a genetic mutation that likely caused the girl to experience a cascade ...
Jul 23, 2018
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One in five very low-birth-weight, premature infants suffers a life-threatening brain hemorrhage, often originating in a vital region known as the germinal matrix. In a recently published study in the journal Developmental ...
Mar 13, 2018
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The 22q11.2 region of human chromosome 22 is a hotspot for a variety of birth defects. Scientists learned about this region because it is deleted in about 1 in 4,000 births, causing the loss or duplication of up to 40 genes. ...
May 25, 2017
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A small regulatory RNA called microRNA-155 appears to play a key role in the brain inflammation that helps foster Parkinson's disease. This finding, using a mouse model, implicates microRNA-155 as both a potential therapeutic ...
Feb 24, 2016
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Abolishing the 24-hour clock by knocking out a key gene during development accelerates aging and shortens lifespan by two thirds in mice, but this effect is absent if the gene deletion is delayed until after birth, according ...
Feb 3, 2016
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Scientists have identified a gene that appears to play a significant role in raising a person's risk of having more severe subtypes of autism that co-occur with other genetic diseases, such as the chromosomal disorder 22q11.2 ...
Jan 19, 2016
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