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.

Latest News

  • Importance of prompt diagnosis for individuals affected by 22q11.2 deletion syndrome
    "Prompt diagnosis can play an important role in improving the quality of life for individuals affected by the chromosome 22q11.2 deletion syndrome. The 22q11.2 community therefore supports early identification including via prenatal and neonatal screening," said Prof. Donna McDonald-McGinn, Chair of the 22q11.2 Society, Director of the 22q and You Center, Chief of the Section of Genetic Counseling, and Associate Director of Clinical Genetics at the Children's Hospital of Philadelphia and Clinical Professor of Pediatrics at the Perelman School of Medicine of the University of Pennsylvania.

    "Importantly, prenatal suspicion of 22q11.2 deletion syndrome allows for evaluation, confirmatory testing, and delivery at high-level healthcare facilities where neonates have access to potentially life-saving interventions including cardiac surgery, as well as treatment for other key features such as low calcium, immune deficiency, feeding, swallowing, and breathing issues, all with the goal of optimizing long-term outcome while obviating the protracted diagnostic odyssey frequently traversed by families."

  • Scholarship Opportunity: The ACPA Randall/LaRossa College Scholarships
    The Randall/LaRossa College Scholarship Fund was established in 2009 to honor Peter Randall, MD and Don LaRossa, MD from the Children's Hospital of Philadelphia (CHOP). Both of them were pioneers in surgery for palatal abnormalities in children with 22q11.2 deletion syndrome.

    The American Cleft Palate-Craniofacial Association awards three college scholarships annually to outstanding students born with cleft or craniofacial conditions. Please visit the scholarship website for more information and to submit an application. The deadline to apply is February 4th, 2022.

  • Croatia 2022: Abstract deadline extended, Family Meeting expanded
    The deadline for abstract submission for the 12th Biennial International 22q11.2 Conference has been extended to February 22nd, 2022. Please visit the Call for Abstracts page for more information.

    In addition, one full day has been added to the Family Meeting, which will now take place from June 26th to 28th, 2022. Please visit our Meetings page for more information.

  • Light up buildings to raise awareness for 22q
    For individuals with 22q, early diagnosis allow for better management and outcome. However, 22q is an under-recognized complex condition, which often contributes to delays in diagnoses. This past November 22nd, buildings multiple countries were lit in red to raise awareness for 22q. Please see our section on Luces por el 22q - Lighting the 22q for photos and details.

  • Responses to the Washington Post regarding an inaccurate article about 22q
    The 22q11.2 community is responding to perceived inaccuracies and unsubstantiated medical recommendations in a Washington Post article of May 1st, 2021. The article in question is "Doctors said the boy was suffering from teenage psychosis. What he really had was a rare genetic condition.".

    The genetic condition the article refers to is 22q11.2 deletion syndrome. Here are some of the letters that 22q experts have written to the Washington Post.

    22q Society's Response to the Washington Post

    IBBC's Response to the Washington Post

    International 22q11.2 Foundation's Response to the Washington Post

    22q11.2 Society Advisor, Dr. Emily Gallagher, also submitted a letter to the Editor advising caution for the use of the investigative drug discussed in the article. Further, she went on to encourage any families who are considering taking medications for the treatment of 22q11.2 Deletion Syndrome to reach out to a specialized multidisciplinary team to discuss their options so they can make an informed and safe decision. This letter was released by the Washington Post on May 12th, 2021.

  • Revised dates for the 12th Biennial International 22q11.2 Meeting
    The conference in Croatia has been rescheduled as follows for 2022:

    • Family Meeting June 26th (Sunday) and 27th (Monday)
    • IBBC and Network of the Americas June 28th (Tue)
    • Professional Meeting June 29th (Wed), 30th (Thu), and July 1st (Fri)
    The conference will take place in-person. Additional information will be posted on our Meetings Page as it becomes available.

  • Dr. Anne Bassett Wins The Lieber Prize For Outstanding Achievement In Schizophrenia Research
    Congratulations to Dr. Anne Bassett, the Treasurer of the 22q Society, who is the 2020 winner of the Lieber Prize for Outstanding Achievement in Schizophrenia Research from the Brain and Behavior Research Foundation. Established in 1987, the prize aims to bring public recognition to the outstanding discoveries being made in schizophrenia research.

    Dr. Bassett is the second Canadian to receive this international award. She described her work in a presentation entitled Identifying a Genetic Subtype of Schizophrenia That is Clinically Relevant for Patients and Families at the International Mental Health Research Symposium on October 30th, 2020.

  • Please wear a mask
    Wearing masks in indoor public places helps reduce the spread of COVID-19 and keep each other safe. Some cities and regions have now enacted mandatory mask bylaws. For more information on the use of masks, please see the World Health Organization's video on masks and the International 22q11.2 Foundation's info sheet: Masks: Why, When, and How.

    Check out this video by Bill Nye to see how effectively face masks work. When Bill wears a mask and blows on the candle, the candle stays lit no matter how hard he blows. The air flow from his mouth mostly cannot reach the candle. Similarly, when we wear masks, it is much harder for viruses from our mouths and noses to get into the air and infect someone else. So please wear a mask. Thank you.

  • 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

  • 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.

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

    Please stay home and stay healthy!

  • 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.