PRECISION MEDICINE IN AUTISM
About the 17q12 CNVs Study
Our research study "A Genomic Approach to Precision Medicine for Autism and Neurodevelopmental Conditions" is enrolling children and adults with a 17q12 deletions or duplications to understand how genetics can impact their healthcare. Participation is open to those who have this genetic change, whether or not they have autism, epilepsy, kidney disease, or other neurodevelopmental conditions. The study will take approximately 6 hours and involves collecting health information and completing questionnaires and assessments online. This study is led by researchers at the University of Alberta in Canada and is conducted online.
Participation Process
Informed Consent
• We schedule a phone or Zoom call to review the study and answer your questions.
• This helps you make an informed decision about participation.
• If you decide to proceed, you complete electronic consent forms.
• All calls, forms, and questionnaires are available in English or Spanish.
Initial Contact
1. Contact Us
Reach out to our research team to express your interest.
2. Introductory Call
We schedule a call to explain the study, review participation details, and answer your questions.
3. Informed Consent
If you decide to move forward, we guide you through the informed consent process.
Questionnaires and assessments
After consent, participation includes:
• A medical history interview
• Questionnaires about thoughts, behaviors, and emotions
• A computer-based cognitive test
• A research psychiatric interview
• Authorization forms to access relevant medical records (e.g., MRIs, EEGs)
Follow Up
Approximately 1.5–2 years after enrollment, we will:
• Request updates to medical and family history
• Document any relevant changes
• Ensure our records remain accurate
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Your continued input supports our long-term research efforts.
Are you interested in participating?
To participate, contact Dr. Daniel Moreno De Luca or the PRISMA research staff at +1 780 492 4467 or prisma@ualberta.ca
