22q11.2 Society

The 22q11.2 Society

Who we are: We are a group of researchers and physicians who specialize in conditions related to the deletion and/or duplication in the chromosomal region 22q11.2 and their underlying biology.

Mission: 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 will be to exploit the knowledge so gained for the benefit of populations of individuals with more common conditions. Read More

Vision: To be the international leader in promoting research related to the chromosome 22q11.2 region.

Join The 22q11.2 Society

The 22q11.2 Society

Society Structure

The 22q11.2 Society is a Charitable Incorporated Organisation Registered with the Charity Commission for England and Wales.

If you wish to be involved in the administration of the 22q11.2 Society or would like details of the constitution/governing document please contact us.


Donna McDonald-McGinn

Anne Bassett

Pete Scambler

Ann Swillen

Bernice Morrow


Bernice Morrow

Bruno Marino

Nicole Philip

Jacob Vorstman

Website Editor

Joanne Loo

Latest News

  • Passing of Dr. Clodagh Murphy
    We are very sad to announce the passing of Dr. Clodagh Murphy, our close friend and colleague. Please see the tribute from the 22q11.2 Society Trustees.

  • Video message from the 22q Society
    Dear Members of the 22q11.2 Community,

    During this difficult time, the 22q11.2 Society would like to send you the following video message:


    It is a bit tongue-in-cheek, but please know that we certainly recognize how serious this pandemic is and we are thinking about each and every one of you. Please also know that COVID-19 cannot cripple love, shatter hope, corrode faith, destroy peace, kill friendship, suppress memories, invade the soul, or conquer the spirit because we are all in this together...

    Stay healthy friends,


  • Let's help reduce the spread of COVID-19
    The COVID-19 pandemic is happening around the world. Let's reduce the spread:

    • Stay home (Why staying home helps)
    • Wash your hands often with soap and water for at least 20 seconds OR use alcohol-based hand sanitizers
    • Try not to touch your eyes, nose, and mouth
    • Cough and sneeze into your sleeves and not your hands
    • Stay at least 2 metres (6 feet, or 3 big steps) away from one another
    Cartoon coronavirus
    Here is a tip-sheet from the Dalglish Family 22q Clinic about COVID-19.

    Please stay home and stay healthy!

  • Virtual event replaces 10th Annual 22q at the Zoo event
    The 10th Annual 22q at the Zoo Worldwide Awareness Day is cancelled in 2020 due to COVID-19 concerns. Nevertheless, the International 22q Foundation invites everyone to participate in a virtual event entitled:

    Life is a Zoo But the International 22q Foundation is Still Here for You!

    It is easy to join! For more information, please visit the event website.

  • Postponed: 12th Biennial International 22q11.2 Meeting
    As a result of the coronavirus (COVID-19) situation and associated travel restrictions, the leadership of the 22q11.2 Society has made the difficult and unprecedented decision to postpone the upcoming 12th Biennial International 22q11.2 meeting scheduled for June, 2020 at Le Meridien Lav Hotel in Split, Croatia until 2021.

    Please visit our Meetings page for more information. Thank you for your understanding.

  • Important videos about COVID-19
    Please visit the website of the Immune Deficiency Foundation and click on the "link to video" next to "March 10, 2020 video update" and March 4, 2020 video update for important video presentations for the 22q11.2 Community concerning the COVID-19 ("coronavirus") situation.

    These two videos are made by 22q11.2 Society Advisor, Chair of Allergy and Immunology at the Children's Hospital of Philadelphia, and Professor of Pediatrics at the Perelman School of Medicine of the University of Pennsylvania, Kathleen Sullivan, MD, PhD.

    If you have any concerns about COVID-19 or any aspects of your health, please check with your healthcare provider. Thank you.

  • Professor Ann Swillen receives the Edelweiss Award
    Ann Swillen receives the Edelweiss AwardProfessor Ann Swillen, the Secretary of the 22q Society and a clinical educational psychologist in the Centre of Human Genetics in UZ Leuven, received the Edelweiss Award in the category "healthcare professional" on Saturday, February 29th, 2020.

    The Edelweiss Awards are presented annually by RaDiOrg, the Belgian umbrella association for people with rare diseases, to individuals and organizations that provide special merit for rare diseases in Belgium. The jury chose Professor Swillen because of her "incredible commitment to the care of patients with rare diseases and, in particular, patients with 22q11 deletion syndrome (22q11 DS)". She is the initiator of numerous research projects on 22q11 DS and leads national and international research projects.

    In addition, the jury appreciates her open and clear communication with patients and parents. A concrete example of this is the information and activity package 'Together we lay the puzzle' that she recently developed. Professor Swillen also organizes Dale & Do Sessions for teenagers with a 22q11 DS to talk about their thoughts and feelings and increase their self-confidence.

    Congratulations, Professor Swillen!

  • Invitation to contribute to the website
    The website editor of the 22q Society website is looking for more:

    - Translations of existing reviews and guidelines

    - Research commentaries

    - Graduate theses

    Please send your contributions to: website_editor(at)22qsociety.org

    Thank you!

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