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Category Archives: Human Genetics

Devastating disease that changes brain size discovered – Medical Xpress

Posted: September 8, 2017 at 3:45 am

Credit: University of Manchester An international collaboration led by scientists and doctors from the UK, Netherlands and United States has identified a new genetic disease that affects the size of our brains and causes severe developmental problems. While working on another project, Dr Siddharth Banka who is based at The University of Manchester and the Manchester Centre for Genomic Medicine, Saint Mary’s Hospital, noticed three children with large or small brains, developmental delay and mutations in a gene called RAC1 Continue reading

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Split-brain fruit fly research gives insight into autism – Nevada Today

Posted: September 3, 2017 at 9:41 pm

A better understanding of the cause of autism may come from an unlikely source,eurological studies of the fruit fly. Continue reading

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Genes causing intellectual disabilities identified – The Indian Express

Posted: at 9:41 pm

By: IANS | London | Updated: September 3, 2017 7:01 pm The researchers expect this mechanism to help and play a role in a much larger proportion for patients with intellectual disabilities. (Source: Thinkstock Images) Researchers have discovered 15 genes that play a role in the development of intellectual disabilities. Intellectual disabilities are often caused by a mutation that damages a gene responsible for protein production in cells thus preventing the associated protein from functioning properly Continue reading

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Using Genetics to Uncover Human History – JD Supra (press release)

Posted: August 23, 2017 at 3:41 am

Human history is often something modern man only sees as through a glass, darkly. Continue reading

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How Jewish activism has wiped out Tay-Sachs – The Times of Israel

Posted: at 3:41 am

JTA Parents of children born with Tay-Sachs disease talk about three deaths. There is the moment when parents first learn that their child has been diagnosed with the fatal disease Continue reading

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Bacteria May Rig Their DNA to Speed Up Evolution – WIRED

Posted: August 20, 2017 at 3:40 pm

In 1944, a Columbia University doctoral student in genetics named Evelyn Witkin made a fortuitous mistake. Continue reading

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Midland to host community conference for genetic conditions – Baylor College of Medicine News (press release)

Posted: August 15, 2017 at 6:42 pm

On Saturday, Sept. 16, Baylor College of Medicine will bring a community conference and resource fair to the Midland area to provide an educational seminar and support materials for children with special needs, as well as their parents. Provided jointly by Baylor and Texas Childrens Hospital, in collaboration with SHARE West Texas, the conference will address the role genetic evaluations play in patients with autism spectrum disorders Continue reading

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Human Germline Genome Editing – Genetics bodies weigh in on debate with position paper – Lexology (registration)

Posted: at 6:42 pm

In an article published in American Journal of Human Genetics on 3 August 2017, an international group of 11 organisations with genetics expertise has issued a joint position statement, setting out 3 key positions on the question of human germline genome editing: (1) At this time, given the nature and number of unanswered scientific, ethical, and policy questions, it is inappropriate to perform germline gene editing that culminates in human pregnancy. (2) Currently, there is no reason to prohibit in vitro germline genome editing on human embryos and gametes, with appropriate oversight and consent from donors, to facilitate research on the possible future clinical applications of gene editing. There should be no prohibition on making public funds available to support this research Continue reading

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The Search for the Missing AD Heritability Turns Up New Rare Variants – Alzforum

Posted: at 6:42 pm

15 Aug 2017 Genetic forces drive a sizable portion of Alzheimers disease, yet only a fraction of cases thus far are explained by known mutations. Continue reading

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Human Germline Genome Editing Genetics bodies weigh in on debate with position paper – JD Supra (press release)

Posted: August 12, 2017 at 11:41 am

In an article published in American Journal of Human Genetics on 3 August 2017, an international group of 11 organisations with genetics expertise has issued a joint position statement, setting out 3 key positions on the question of human germline genome editing: (1)At this time, given the nature and number of unanswered scientific, ethical, and policy questions, it is inappropriate to perform germline gene editing that culminates in human pregnancy. (2)Currently, there is no reason to prohibit in vitro germline genome editing on human embryos and gametes, with appropriate oversight and consent from donors, to facilitate research on the possible future clinical applications of gene editing Continue reading

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