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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.


Research Agenda

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. 

Genetics Node Leader

Julian Martinez-Agosto, MD, PhD

Assistant Professor, Pediatrics, Pediatric Genetics, Medical Genetics Clinic, Human Genetics