Overview of the Genetics Node

Dr. Julian Martinez-Agosto

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, 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, natural history of rare genetic conditions, developing guidelines for improving physical health, interventions for improving access to genetics testing, and identifying genes linked to co-occurring conditions or treatment responses. Research will be informed by the priorities and perspectives of the autistic community.

Responsibilities of Genetics ANSWER Reps

  • Attend quarterly node meetings (4 hours per year) to provide input on node projects and activities.
  • Participate in setting goals, priorities, and node planning. This includes:
  • Participate in research agenda updates to inform the priorities and activities of the node by providing feedback 2 times per year.
  • Provide input on node activity communications: social media, website updates, newsletters
  • Opportunities to join ongoing and future projects based on interest, with the expectation that the ANSWER representative will participate in the planning, implementation, and/or analysis for at least one project
  • Join research agenda networking activities when interested

We are looking for individuals with the following experience:

  • Autistic/Neurodivergent lived experience AND prior graduate-level training.

Preferred Qualifications for Genetics ANSWER Reps:

  • Applicants must have at least two years of graduate training.
  • Applicants must have a current affiliation with an academic institution, either through current enrollment in a research-based doctoral program OR as post-doctoral scholars having completed their doctoral and/or medical degree.
  • Background in autism, genetics, and/or neurodevelopmental research
  • Complete CITI training or other research ethics training (e.g., TCPS 2: CORE-2022) and review of introductory materials before participation in node activities.
  • Willingness to provide constructive feedback
  • Ability to work effectively in a team with a diversity of opinions
  • Willingness to identify and remove oneself from potential conflicts of interest (in proposal review)
  • Respond to communications within 72 hours and provide availability/flexibility for meeting scheduling.
  • Outstanding writing and English language communication skills preferred
  • Skills related to data management/cleaning, coding languages, and statistical analysis are preferred but not required