Genotype-Phenotype 7q11.23 Study

What are the goals of this study?

  • To better understand which genetic changes affect physiological manifestations of WS
  • To better understand which treatment approaches – including medical, behavioral, and educational – are most beneficial for overcoming challenges associated with WS.

Who can be a part of this research study?

  • Individuals diagnosed with WS and their families.
  • Individuals with mutations, deletions, and amplifications within 7q11.23 region

What will you be asked to do?

  • You will be asked to fill out questionnaires (mostly online) regarding medical and mental health of participating individual with WS.
  • You will be asked to provide either a saliva or blood sample, so that we can isolate DNA from it and conduct genetic testing.
  • You will be asked to participate in online and in-person tests assessing behavior, cognition, and development.
  • We will ask for permission from participants and families to share health records of the individual with WS.

What are the benefits of taking part in this research study?

  • Results of the study will increase our understanding of genetic events underlying certain symptoms and behaviors associated with WS

Will I be paid for taking part in this study?

  • No, this arm of the study does not provide monetary compensation for participation. Our gratitude, though, will be enormous!

I'm interested! How do I participate?