22q11.2 Society

The 22q11.2 Society

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. Read More

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

  • 22q11 European Conference - Dublin
    The 5th European 22q11 Conference will take place at Hyatt Centric Hotel - The Liberties in Dublin, Ireland, on November 18th and 19th, 2023. This is primarily a family meeting, and the local organizer of the conference is 22q11 Ireland.

    All researchers working in the field of 22q11.2 deletion syndrome who are interested to present their recent findings at this occasion are welcome to submit a structured abstract of maximum 250 words to Maude.Schneider(at)unige.ch. The deadline for abstract submission is July 1st, 2023. We hope to see you at the conference!

  • Now Available: Traditional Chinese Version of Healthcare Recommendations for Adults
    In early 2023, we published clinical recommendations for children and youth, adults, and prenatal care. We have now translated the adult document into Traditional Chinese. Many thanks to everyone involved in this important project. We hope to translate the guidelines into more languages. If you are able to contribute, please contact the lead authors.

  • Updated Healthcare Recommendations published
    The 22q11.2 Society is delighted to share with you that we have successfully published three very important papers:

    The Updated Pediatric Healthcare Recommendations
    Published February 2nd, 2023

    The Updated Adult Healthcare Recommendations
    Published February 2nd, 2023

    Newly developed Prenatal Screening and Diagnostic Considerations for 22q11.2 Deletion Syndrome
    Published January 6th, 2023

    We are enormously grateful for all those contributing to this work, in particular lead authors Slveig skarsdttir, Erik Boot, Donna McDonald-McGinn, Anne Bassett, and Natalie Blagowidow, as well as Lauren Lairson who provided immeasurable administrative support. We are sure these papers will be highly cited and most importantly will make a huge impact on clinical care for patients and families worldwide. Please feel free to share broadly.

    Next on our 'To Do' list will be to support the development of subspecialty guidelines, also discussed during the meeting in Split, capitalizing on the REDCap database built by Blaine Crowley and updated by Joanne Loo inclusive of literature reviewed from January 1, 1992 to April 14, 2021, the details of which can be found in the Supplemental Materials for the Adult and Pediatric Guidelines. Many of you signed up to participate in this work in Split but if you did not commit at the time/were not in attendance and would like to participate or would just like to confirm your interest now, please contact Erik Boot or Donna McDonald-McGinn, or send an email to website_editor(at)22qsociety.org. We are certain these too will be invaluable for patients and providers, and we very much hope to complete many of these papers prior to our next conference in 2024.

    We sincerely hope you are as excited about these Society milestones as we are, and we look forward to sharing our collective continued progress moving forward.

  • Donna McDonald-McGinn receives the NSGCares Community Engagement Award
     The 22q11.2 Society is proud to announce that our very own Founding Board Member and current Chair, Donna McDonald-McGinn, MS, LCGC, received the National Society of Genetic Counselors 2022 NSGCares Community Engagement Award. NSGC released the following video to celebrate the occasion:


    Donna was nominated for the award by fellow genetic counsellors Kathleen Valverde and Margaret Harr. The award ceremony took place in Nashville TN, during the 41st Annual Conference of the National Society of Genetic Counselors, from November 16 to 20, 2022. Donna received the award from her son, Daniel McGinn, a Genetic Counseling Assistant at Children's Hospital of Philadelphia (CHOP).

    We would like to acknowledge Prof. McDonald-McGinn's longstanding and exemplary commitment to support patients and families affected by chromosome 22q11.2 differences as well as the larger 22q scientific and clinical community. We were also delighted to see so many 22q11.2 Society members and our recent Croatia meeting featured prominently in the video. Sending huge congratulations and best wishes to Donna now and in the future!

  • Completed: The 12th Biennial International 22q11.2 Meeting
    The 12th Biennial International 22q11.2 Meeting has taken place in person in Croatia. Please see the photos.

  • A Way to Support Ukrainian Refugees, Including Those with 22q Differences and Other Disabilities
    As stated in an email to our colleagues, The 22q11.2 Society stands in solidarity with our European colleagues and families, and most importantly the Ukrainian people and those helping displaced persons across Europe.

    If you are looking for a way to help Ukrainian refugees, here is an option. 22q11.2 Society advisor, member and basic scientist, Dr. Beata Nowakowska, is housing families, feeding newly arriving refugees at the train station in Warsaw, and working closely with the Polish 22q Association (Stowarzyszenie 22q11 Polska) to support families of children with disabilities, including those affected by chromosome 22q11.2 differences, as well as others arriving daily to Poland. Current estimates suggest that >1.2 million Ukrainians are now in Poland and numbers are expected to continue rising. To support these efforts, Stowarzyszenie 22q11 Polska has created a fundraiser, with a website in Polish, English and Ukrainian (the payment page is in English as well). Please consider making a donation. Every little bit helps. Thank you.

  • 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."

  • 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.

  • Profs. Bruno Marino and Nicole Sarles-Philip honored with 2020 DiGeorge Medal
    It is with enormous pleasure that the Trustees of the 22q11.2 Society announce Professors Bruno Marino and Nicole Sarles-Philip as joint recipients of the 2020 Angelo DiGeorge Memorial Medal of Honor. Drs. Marino and Sarles-Philip 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 Sarles-Philip 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 Sarles-Philip 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 Sarles-Philip will be recognized in person as recipients of the DiGeorge Medal at the 12th Biennial International 22q11.2 Meeting in Split, Croatia.

  • 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.