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Published on March 12, 2021
Researchers at the Baylor College of Medicine report that they have found that microbes in the gut may contribute to certain symptoms associated with complex neurological disorders. Their study “Dissecting the contribution of host genetics and the microbiome in complex behaviors,” published in Cell, also suggests that microbe-inspired therapies may one…
Published on January 26, 2021
Researchers have developed machine learning algorithms to find maternal clues linked to the diagnosis of a severe type of autism, identified as maternal autoantibody-related autism spectrum disorder (MAR ASD). As early as the early 1990s, papers began to describe an association between the presence of certain antibodies to specific fetal…
Published on November 30, 2020
A pioneering method of uncovering gene function, called in vivo pertub-seq, has been used to study 35 de novo loss of function genes previously associated with autism spectrum disorder (ASD). Jin et al. used CRISPR-Cas9 to edit the genes and single-cell-sequencing (RNAseq) to study their function in developing mouse embryos.…
Published on April 29, 2020
A small study by researchers at Stanford University School of Medicine has identified a biological marker in the cerebrospinal fluid (CSF) of human infants that may predict the future development of autism spectrum disorder (ASD). The study, which exploited a “one-of-a-kind” archive of biomaterials, showed that the hormone vasopressin was…
Published on April 3, 2020
A study by National Institutes of Health researchers has offered up new genetic insights that might help to explain why autism spectrum disorder (ASD) is more common in boys than it is in girls. The findings suggest that just a single amino acid change in the version of a gene…
Published on February 5, 2020
The largest study to date of rare genetic variants has mapped 102 new genes associated with autism. These new findings, from the Autism Sequencing Consortium (ASC), could lead to earlier and more precise diagnosis and better treatment options. The study results are being published in Cell and are now available online.…
Published on January 10, 2020
Scientists at Rutgers University have discovered that the protein involved in the proliferation and differentiation of neural progenitor cells—specifically p75 neurotrophin receptor (p75NTR)—may also influence the development of autism. This protein is responsible for the cell cycle regulation of neuronal cells in developing brain tissue, and when it is missing…
Published on December 26, 2019
While our understanding of the genetics and molecular mechanisms underlying autism spectrum disorder (ASD) continue to improve, having better diagnostic tools that can accurately asses the chances the disease will arise in offspring is critical information many would-be parents crave. Many researchers believe both genetics and the environment play a…
Published on December 13, 2019
In the largest study of its kind, researchers at Massachusetts general Hospital have learned that eight psychiatric disorders have common genetic links. Studying GWAS data from healthy controls and individuals with at least one psychiatric disorder, they identified 109 gene variants associated with an increased risk for more than one…
Published on June 13, 2019
Researchers headed by teams at the Chinese Academy of Sciences, and Massachusetts Institute of Technology (MIT), have used CRISPR-Cas9 gene editing to engineer macaque monkeys with germline-transmissible mutations in Shank3, a gene that is linked with a form of autism and other human neurodevelopmental disorders. The engineered animals demonstrated altered…
Published on June 8, 2019
The transfer of human microbiota to mice has successfully transplanted phenotypes of obesity, depression, Parkinson’s disease, schizophrenia, and multiple sclerosis. Now, we can add autism spectrum disorder (ASD) to the list. A new study suggests that the gut microbiome and its metabolites contribute to hallmark ASD behaviors and associated neuronal…
Published on May 28, 2019
A team of Princeton University-led researchers has used an artificial intelligence algorithm to identify mutations in “junk” DNA that can cause autism. The findings, reported in Nature Genetics, are the first to functionally link mutations in regulatory DNA with a complex disease such as autism, and suggest that the alterations…
Published on May 2, 2019
The largest ever study of gene associations in bipolar disorder has been completed by Mount Sinai School of Medicine researchers and has identified 30 genome-wide significant loci, including 20 that are novel. More than 50,000 subjects in 14 countries and more than 200 collaborating institutions participated in this large-scale genome-wide…
Published on February 27, 2019
An international research effort headed by scientists from the Danish iPSYCH initiative and the Broad Institute has identified the first common genetic risk factors for autism spectrum disorder (ASD). The genome-wide association meta-analysis, involving more than 18,000 individuals with ASD and nearly 30,000 controls, also identified genetic variations between different…
Published on February 13, 2019
Scientists have described the impacts of neuronal mutations on autism-related characteristics in humans in an open-access article (“CNTN5-/+or EHMT2-/+human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks”) published recently in eLife. “Induced pluripotent stem cell (iPSC)-derived neurons are increasingly used to model Autism Spectrum Disorder (ASD), which is clinically…