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Genes that cause OCD identified by scientists

Daily Mail - Science & tech

The genes that could cause obsessive compulsive disorder (OCD) have been identified by scientists in a breakthrough that could lead to a new form of therapy. The condition, suffered by a host of celebrities including David Beckham, forces people to act in unusual ways. Former England footballer Beckham has admitted he has a compulsion to rearrange the contents of hotel rooms and line up cans of soft drinks. But now it could be treated with gene therapy after four were discovered to be involved, the first to be linked to OCD in humans. Mutations were found in brain cells linked to serotonin – a chemical involved in emotions, low levels of which can cause OCD.


Integrative functional genomic analysis of human brain development and neuropsychiatric risks

Science

The brain is responsible for cognition, behavior, and much of what makes us uniquely human. The development of the brain is a highly complex process, and this process is reliant on precise regulation of molecular and cellular events grounded in the spatiotemporal regulation of the transcriptome. Disruption of this regulation can lead to neuropsychiatric disorders. The regulatory, epigenomic, and transcriptomic features of the human brain have not been comprehensively compiled across time, regions, or cell types. Understanding the etiology of neuropsychiatric disorders requires knowledge not just of endpoint differences between healthy and diseased brains but also of the developmental and cellular contexts in which these differences arise. Moreover, an emerging body of research indicates that many aspects of the development and physiology of the human brain are not well recapitulated in model organisms, and therefore it is necessary that neuropsychiatric disorders be understood in the broader context of the developing and adult human brain. Here we describe the generation and analysis of a variety of genomic data modalities at the tissue and single-cell levels, including transcriptome, DNA methylation, and histone modifications across multiple brain regions ranging in age from embryonic development through adulthood. We observed a widespread transcriptomic transition beginning during late fetal development and consisting of sharply decreased regional differences. This reduction coincided with increases in the transcriptional signatures of mature neurons and the expression of genes associated with dendrite development, synapse development, and neuronal activity, all of which were temporally synchronous across neocortical areas, as well as myelination and oligodendrocytes, which were asynchronous. Moreover, genes including MEF2C, SATB2, and TCF4, with genetic associations to multiple brain-related traits and disorders, converged in a small number of modules exhibiting spatial or spatiotemporal specificity. We generated and applied our dataset to document transcriptomic and epigenetic changes across human development and then related those changes to major neuropsychiatric disorders. These data allowed us to identify genes, cell types, gene coexpression modules, and spatiotemporal loci where disease risk might converge, demonstrating the utility of the dataset and providing new insights into human development and disease.


Autism spectrum disorder linked to 18 new genes

Daily Mail - Science & tech

The world's largest genetic study of people with autism has pinpointed 18 new genes that are linked to the condition. The discovery could help identify new sub-types of the condition, as well as help explain its causes, researchers claim. The find could also explain why people with autism often have other medical conditions, including adult diabetes and heart problems. The world's largest genetic study of people with autism has pinpointed 18 new genes that are linked to the condition. Scientists studied the DNA of more than 5,000 families affected by autism to find genes that contribute to the spectrum disorder.


Princeton University - Researchers flag hundreds of new genes that could contribute to autism

#artificialintelligence

Investigators eager to uncover the genetic basis of autism could now have hundreds of promising new leads thanks to a study by Princeton University and Simons Foundation researchers. In the first effort of its kind, the research team developed a machine-learning program that scoured the whole human genome to predict which genes may contribute to autism spectrum disorder (ASD). The results of the program's analyses -- a rogue's gallery of 2,500 candidate genes -- vastly expand on the 65 autism-risk genes currently known. Researchers have recently estimated that 400 to 1,000 genes underpin the complex neurodevelopmental disorder. This newest research provides a manageable, "highly enriched" pool from which to pin down the full suite of ASD-related genes, the researchers said.


Researchers develop machine-learning program that helps identify hundreds of ASD-related genes

#artificialintelligence

Investigators eager to uncover the genetic basis of autism could now have hundreds of promising new leads thanks to a study by Princeton University and Simons Foundation researchers. In the first effort of its kind, the research team developed a machine-learning program that scoured the whole human genome to predict which genes may contribute to autism spectrum disorder (ASD). The results of the program's analyses -- a rogue's gallery of 2,500 candidate genes -- vastly expand on the 65 autism-risk genes currently known. Researchers have recently estimated that 400 to 1,000 genes underpin the complex neurodevelopmental disorder. This newest research provides a manageable, "highly enriched" pool from which to pin down the full suite of ASD-related genes, the researchers said.