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.
www.charitycommission.gov.uk

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.


Officials

Chair
Donna McDonald-McGinn

Treasurer
Anne Bassett

Vice-Treasurer
Pete Scambler

Secretary
Ann Swillen

Trustee
Bernice Morrow


Advisors

Bernice Morrow

Bruno Marino

Nicole Philip

Jacob Vorstman


Website Editor

Joanne Loo

Latest News

  • Profs. Bruno Marino and Nicole Philip-Sarles honored with 2020 DiGeorge Medal
    It is with enormous pleasure that the Trustees of the 22q11.2 Society announce Professors Bruno Marino and Nicole Philip-Sarles as joint recipients of the 2020 Angelo DiGeorge Memorial Medal of Honor. Drs. Marino and Philip-Sarles were selected in recognition of:

    1. Their seminal contributions to the study of genotype-phenotype correlations in 22q11.2DS;

    2. Their pivotal roles in establishing world renowned subspecialty clinics at Sapienza University and Ospedale Bambino Gesu in Rome, and the Centre of Expertise for Developmental Anomalies of South France in Marseilles, respectively;

    3. Their unwavering commitment and service to individuals and families affected by chromosome 22q11.2 differences through their work with AIDEL22 in Italy and Generation 22 in France, as well as throughout the region and across the world, including as Medical Advisory Board Members for the International 22q11.2 Foundation; and

    4. Their longstanding efforts to support collaborative work globally through innumerable basic science, clinical and educational initiatives as members of the International 22q11.2 Modifier Consortium and the International 22q11.2 Brain and Behavior Consortium, in hosting biennial international 22q11.2 conferences in Rome '00 and Marseilles '06, and as founding Trustees of the 22q11.2 Society.
    Without question, Profs. Marino and Philip-Sarles are recognized as experts on chromosome 22q11.2 CNVs nationally and internationally, but in addition they are acknowledged as world authorities in Pediatrics, Cardiology, Genetics, and Fetal Medicine. It is with inordinate pride that we consider Profs. Marino and Philip-Sarles as members of the 22q11.2 family, as we celebrate their individual and collective achievements conjointly with this award, the highest honor presented by the Society.

    Following the COVID-19 pandemic, Profs Marino and Philip-Sarles will be recognized in person as recipients of the DiGeorge Medal at the 12th Biennial International 22q11.2 Meeting in Split, Croatia.


  • Our COVID-19 information webpage

    We invite you to visit our COVID-19 information page, where you will find:

    • How to reduce the spread of COVID-19
    • The International 22q11.2 Foundation's infosheets: COVID-19 Series for Individuals with 22q11.2 Differences
    • The Immune Deficiency Foundation's COVID-19 videos for individuals with immunodeficiencies
    • Invitation to participate in studies
    Cartoon coronavirus


  • Survey for families affected by chromosome differences
    G2MH, an international group of scientists and healthcare providers, many of whom are members of the 22q11.2 Society and supported by the US National Institutes of Health (NIH), is interested in learning about why families and persons affected by chromosome differences may or may not participate in research studies. In addition, given the current COVID-19 pandemic, G2MH is also hoping to learn about how families are coping during this difficult time. We therefore invite you to share the following short anonymous survey with your patients:

    https://redcap.chop.edu/surveys/?s=NK7DMDX3CM

    Many thanks in advance.


  • 22q and ZooM - a big Thank You!
    What an AMAZING Day at the ZooM for 22q! Thank You for Joining Us and Raising Awareness!

    The International 22q11.2 Foundation would like to thank all the event coordinators, co-hosts, foundations, 22q clinics and families around the world that continue to collaborate and work tirelessly to bring 22q to the forefront every day! The celebration happened because of YOU! Here are some photos. More to come, so please stay tuned. Thank you!


  • COVID-19 videos for individuals with immunodeficiencies
    Please visit the website of the Immune Deficiency Foundation for important video presentations for the 22q11.2 Community concerning the COVID-19 ("coronavirus") situation. To find out how individuals with immunodeficiencies have been doing when they contract COVID-19, please see the April 10 video (7 min 55 sec) and the May 8 video (9 min 11 sec)

    These 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.



  • 22q and ZooM Virtual Worldwide Awareness Day
    The 2020 event of 22q at the Zoo is morphing into 22q and ZooM with a live virtual feed that goes around the world for 24 hours!

    Start time:
    7:00 PM on Saturday May 16th Eastern Daylight time
    which corresponds to 11 am in New Zealand on Sunday May 17th

    End time:
    7:00 PM on Sunday May 17th Eastern Daylight Time
    which corresponds to 1:00 pm in Hawaii

    Please visit the Events page for details and the ZooM link.

  • 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:

    https://m.youtube.com/watch?feature=youtu.be&v=6aIIxAb8BUA

    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,

    Donna



  • 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. The International 22q Foundation offers a resources page on COVID-19 as well.

    Please stay home and stay healthy!

  • 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.