Genetics

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Mission

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.

Node Aims 

Aim 1:  Create guidelines for the ethical design and use of genetics research – Study design and ethical parameters of genetics research studies that include individuals with neurodevelopmental phenotypes.

Aim 2:  Identifying genes associated with co-occurring conditions and treatment responses - clinical utility, diagnostic yield, and therapeutic opportunities, with emphasis on rare genetic predisposition conditions

Aim 3:  Genetic counseling and physician-patient communication – establish perceptions, gaps in knowledge, and barriers to develop interventions that improve care

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. 

Additional Priorities

Mentoring – support researchers who wish to implement genetics studies
Cohort Discovery – facilitate research proposals by testing the potential sample size for studies
Educational Interventions – circulate materials to increase awareness of genetic services
 

Node Resources

Publications

  • Heini M. Natri, Carolyn R. Chapman, Síofra Heraty, Patrick Dwyer, Nick Walker, Steven K. Kapp, Heather A. Dron, Julian A. Martinez-Agosto, Lea Mikkola, Mary Doherty, Ethical challenges in autism genomics: Recommendations for researchers, European Journal of Medical Genetics, Volume 66, Issue 9, 2023, 104810, ISSN 1769-7212, https://www.sciencedirect.com/science/article/pii/S1769721223001167

Webinars

Node Leader