The 22q11.2 Society

Promoting research, diagnosis, prognosis, and management of 22q11.2DS & related disorders

About Us

The 22q11.2 Society is an academic organization interested in advancing the study of chromosome 22q11.2 copy number variants, genes within and modifier genes outside of the 22q11.2 region, their underlying biology, and associated conditions. Members represent a broad range of backgrounds, such as: healthcare providers, clinical and basic science researchers, educators, therapists, and family advocates.


The mission of the 22q11.2 Society is to promote both basic science and clinical interdisciplinary research into the biology of the 22q11.2 region, and the diagnosis, prognosis, and management of related disorders. A subsidiary goal is to exploit the knowledge so gained for the benefit of populations of individuals with more common conditions.

As such, we will endeavor to:
  • Promote collaborative and international partnerships in understanding features associated with chromosome 22q11.2 differences
  • Support the provision of guidance in best practice care
  • Facilitate research surrounding causes, clinical features, and treatment
  • Encourage collaboration and communication between clinicians and researchers in studying these conditions
  • Raise awareness and promote education throughout a broad range of clinical communities and the general public
  • Strive for the highest ethical standards in research and clinical practice involving children and adults affected by these conditions


The vision of the 22q11.2 Society is to be the international leader in promoting research related to the chromosome 22q11.2 region.

Disclaimer: Please note the 22q11.2 society is primarily an academic organization and not a forum providing discussion or individual advice concerning care.

Website Contributions

The 22q11.2 Society Website Editor is seeking volunteers to support:
  • Translations of existing reviews and guidelines
  • Research commentaries
  • Graduate theses
Please send contributions to: website_editor(at)


The 22q11.2 Society Registered Charity No. 1165896