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.

Latest News

• Special issue on 22q11.2 in the American Journal of Medical Genetics
  Just in time for 22q Awareness month, The American Journal of Medical Genetics published a special issue on 22q11.2 on October 31^st, 2018.
  
  
  

• Conference photos now available
  Photos from the conference are now available. Please enjoy.
  
  If you would like to add your photos to the collection on the website of the 22q Society, please contact the website editor (website_editor(at)22qsociety.org). She will provide you with the link to which photos should be uploaded. Thank you.
  
  
  

• Invitation to contribute to the website
  As the website editor mentioned at the conference, we are 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!
  
  
  
  
  

• 11th Biennial International 22q11.2 Conference Completed
  Our most recent conference in Whistler, Canada, has come to a conclusion. Participants enjoyed great presentations and discussions in the three parts of the conference: the International Brain and Behaviour Consortium (IBBC) Meeting, the Professional Meeting, and the Family Meeting.
  
  We would like to congratulate the recipients of the Angelo DiGeorge Medal, the Junior Investigator Award, the Unsung Hero Award, and the inaugural Special Service Award. Photos from the conference are now available.
  
  We would also like to thank all the organizers and participants, as well as the staff at the The Four Seasons Resort and Residences Whistler and The Westin Resort and Spa Whistler for this productive conference.
  
  The next conference will take place in Croatia in the summer of 2020. We hope to see you there.
  
  
  

• Lisanne Vervoort and Tracy Heung receive the Junior Investigator Award
  Congratulations to Lisanne Vervoort and Tracy Heung, the two recipients of the Junior Investigator Award 2018! They received it at the International 22q11.2DS Biennial Conference in Whistler, Canada, on July 13^th, 2018.
  
  
  

• The Dempster Family Foundation Canada receives the Unsung Hero Award
  Congratulations to the Dempster Family Foundation Canada, who received the Unsung Hero Award on July 13^th, 2018, at the 11^th Biennial International 22q11.2 Conference in Whistler, BC.
  
  
  

• Profs. Beverly Emanuel and Donna McDonald-McGinn receive Special Service Award
  Congratulations to Profs. Beverly Emanuel and Donna McDonald-McGinn, along with colleagues at the 22q and You Center at the Children's Hospital in Philadelphia (CHOP) and the Perelman School of Medicine of the University of Pennsylvania, who received the inaugural Special Service Award on July 12^th, 2018, at the 11^th Biennial International 22q11.2 Conference in Whistler, BC.
  
  
  
  

• Prof. Bernice Morrow receives the DiGeorge Medal
  Congratulations to Prof. Bernice Morrow, who was awarded the Angelo DiGeorge Medal on July 11^th, 2018, at the 11^th Biennial International 22q11.2 Conference in Whistler, BC.
  
  
  
  

• Raising a bill in parliament to require the Health Secretary to conduct a review into 22q11.2DS
  On the June 5^th, David Duguid MP raised a bill (video link) in the Parliament of the United Kingdom (UK) to require the Health Secretary to conduct a review into 22q11.2DS. It will require the National Health Service (NHS) to publish a strategy to deal with the condition. Specifically, Mr Duguid called for neonatal blood spot screening for 22q11.2DS.
  
  Max Appeal is encouraging all its members to contact their Members of Parliament (MPs) and ask them to support David Duguid's Bill in the House of Commons. MPs are invited to email David Duguid MP if they would like to support the bill or to join the All-Party Parliamentary Group (APPG).
  
  For more information, please follow David Duguid on Twitter or visit The Max Appeal website on the APPG.
  
  

• Inauguration of 22q11.2 DS Research Fund at KU Leuven
  At February 28^th 2018, on the International Day for Rare Diseases, 3 research funds were inaugurated at the Katholieke Universiteit Leuven (KU Leuven), in Flanders, Belgium. One of them, the 22q11.2 DS/Vecarfa Research Fund, is an initiative between the parent organization "22q11.2 DS Vecarfa Flanders" and the Center for Human Genetics Leuven. The aim of the 22q11.2 DS/Vecarfa Research Fund is to raise awareness, to increase the knowledge on 22q11.2 DS, and to the improve the quality of life of individuals with 22q11.2 DS and their families. Prof. Ann Swillen is the holder of the fund.
  
  

• New recombination hotspot identified on chromosome 22q11.2.
  Article by Guo et al. Hum Mol Genet. 2018 [Epub ahead of print]
  
  Deletion size analysis of 1,680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2
  
  
  

• More News

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