The goals of the genetics research node are to promote access to genetic testing among individuals with rare genetic diagnoses, particularly among underserved populations, in an effort to enhance physical health in this population.
Although autism has been found to have a heritability of 80%, genotyping is particularly complex due to co-occurring conditions. While a proportion of autism is attributable to common variants, rare copy-number variants and protein-disrupting single-nucleotide variants have also been shown to significantly contribute to the etiology. Enhancing access to genetic testing allows autistic individuals and families to gain insight into information that can enhance the quality of life for autistic individuals. Research priorities include genetic counseling, identifying genes linked to co-occurring conditions or treatment responses. Research will be informed by the priorities and perspectives of the autistic community.
Assistant Professor, Pediatrics, Pediatric Genetics, Medical Genetics Clinic, Human Genetics
This project is supported by the Health Resources and Services Administration (HRSA) of the US Department of Health and Human Services (HHS) under award UT2MC39440, the Autism Intervention Research Network on Physical Health. The information, content, and/or conclusions are those of the author and should not be construed as the official position of, nor should any endorsements be inferred by HRSA, HHS, or the US Government.