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Approved Research

Investigation of the genetics of autism spectrum disorder (ASD) and related endophenotypes including neurodevelopmental comorbidities, sensory abnormalities, and changes in pain sensitivity

Principal Investigator: Dr Maria Chahrour
Approved Research ID: 65268
Approval date: September 2nd 2020

Lay summary

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects approximately 1.8% of children. ASD is primarily a genetic condition that can be caused when a person is born with a particular version of a gene. ASD can be caused by variants in many different genes. In some cases it is caused by a variant in one gene with a large effect. It can also be caused by many genes acting together. Because of this complexity it is necessary to analyze genetic information from many people to try to get a full picture of the genetic landscape. We will investigate the genetics behind features that are often seen in individuals with ASD including developmental delay, intellectual disability, difficulties with speech, epilepsy, gastrointestinal disorders, and changes in sensory perception and pain sensitivity.

We will use information from the UK Biobank questionnaire to classify individuals as cases or controls and then compare the genetic variants in each group. This research is expected to take approximately two years. We expect to identify new genes and biological processes that contribute to ASD and the conditions that occur in conjunction with ASD. This will aid early diagnosis which is important because early behavioral therapy greatly improves quality of life for individuals with ASD. We expect our results to open new avenues for investigation of targeted therapies that could benefit children with ASD and their families.