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Showing posts with the label Autism phenotypes

Future Science - Accurate Diagnosis of Autism Phenotype using Brain Biopsies grown from Skin Cells

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  This is a post for the scientists among you, that like to separate science from pseudoscience. You may not be aware that in recent years some revolutionary science has been developed allowing you to create a brain biopsy from a sample of skin.   I was rather taken aback when I first read about it, but it is true.   Researchers are now creating their own artificial biopsies, on which to experiment. I first read about this in work being done at Stanford, looking at Timothy Syndrome .   I did not really focus on the importance of what they had done.   Without physical samples, it almost impossible to develop medical therapies and you cannot take brain biopsies from living people.   Rats and other lab animals are never going to be an adequate substitute.     Here is a link to Johns Hopkins, where there used the same technology to make a brain sample with Huntington’s disease . Turning Skin Cells Into Brain Cells The true potential of this technology...

Autism Phenotypes

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Hardly a week goes by without somebody mentioning to me a wonder treatment or even “cure” for autism; the latest one being the GAPS diet. I think all such reports are worthy of investigation, but many lead to nowhere. Why is this?    ·        Medical science has failed to adequately define autism, so we are not all talking about the same autism ·         Many people putting forward theories have not read even the most basic (and not contested) autism research.   Some are even, apparently, qualified “doctors”.   Autism Phenotypes What is not disputed is that autism has many sub-types (phenotypes). Researchers tell us 10-20% of cases referred to as autism have a known genetic defect (Fragile X, SLOS, Timothy syndrome etc.).   80% do not have a known genetic marker/cause. Autism can be subdivided into regressive (when a child loses speech and other learnt skills) and non-regressive (early onset). ...