Researchers discover 60 new autism genes

Researchers discover 60 new autism genes
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A new study has identified 60 autism genes that could provide vital insight into the full spectrum of the disorder.

Autism affects individuals in different ways, from finding it hard to communicate and getting anxious in unfamiliar situations. It is currently unclear what causes this condition however, a new study by Columbia University researchers found autism genes that could illuminate important clues about the disorder.

“Overall, the genes we found may represent a different class of genes that are more directly associated with the core symptoms of ASD than previously discovered genes,” said Wendy Chung, MD, PhD, the Kennedy Family Professor of Paediatrics and chief of clinical genetics in the Department of Paediatrics at the Columbia University Vagelos College of Physicians and Surgeons.

The findings can be found in Nature Genetics.  

What is autism?

Autism is a lifelong developmental disability which affects how people communicate and interact. It is believed that over 700,000 adults and children in the UK live with the disorder.

Symptoms of autism can include reduced eye contact, clearly focused interests and indifference to temperature extremes. The disorder is diagnosed through observation, medical histories, and questionnaires, and healthcare professionals have a range of tools to support them. An autism assessment may include discussing problems, watching how the child or you interact with other people, and speaking with friends, family or teachers.

Autism genes: what do they mean?

Several genes have previously been linked to autism, and as a group, they are responsible for around 20% of all cases. Most individuals carrying autism genes have intense forms of the disorder and may have additional neurological issues, such as epilepsy and intellectual disability.

To uncover any hidden autism genes, the researchers used data from nearly 43,000 people with the disorder, including 35,000 individuals from the SPARK autism research study of the Simons Foundation.

Five of the autism genes discovered in the study had a more moderate impact on autism characteristics, including cognition than previously discovered genes.

“We need to do more detailed studies including more individuals who carry these genes to understand how each gene contributes to the features of autism, but we think these genes will help us unravel the biological underpinnings that lead to most cases of autism,” Chung said.

The five newly identified autism genes also explain why autism often seems to run in families. Unlike previously known autism genes, which occur due to de novo or new mutations, genetic variants in the five new genes were often inherited from the participant’s parents.

Chung said that many more moderate-effect genes remain to be discovered, and finding them should help researchers better understand the biology of the brain and behaviour across the full spectrum of autism.



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