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

• Genuine registration websites
  When registering for the conferences in Whistler, please check the URL to be sure that you have reached the genuine registration sites, which are:
  
  International Brain and Behaviour Consortium:
  https://chop.cloud-cme.com/aph.aspx?P=5&EID=615"
  
  Professional Conference:
  https://chop.cloud-cme.com/aph.aspx?P=5&EID=597
  
  Family Conference:
  https://chop.cloud-cme.com/aph.aspx?P=5&EID=599
  
  Thank you.
  
  
  
  
  
  

• More information for professional conference
  The 11th Biennial International 22q11.2 Conference is approaching quickly. Please visit our pages on the dimensions of posters and slides as well as ground transportation. We are also providing links to weather and local tourism info.
  
  We are still accepting registration to the conference. See you in Whistler very soon!
  
  
  

• 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.
  
  

• Invited Speakers at Whistler 2018
  At the upcoming Professional 22q11.2 Conference at Whistler, 11 international speakers will be sharing their expertise on 22q11.2-related topics. For details, please check out our Invited Speakers and Programs pages. Don't miss this incredible chance to gain a deeper understanding of the genetics, fundamental mechanisms, phenotypic spectrum, novel interventions and more about 22q11.2-direct from international experts. Register for the conference soon!
  
  

• 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.
  
  

• Registration OPEN for 11th Biennial International 22q11.2 Conference (Professionals and Families)
  Registration is now open for the 11th Biennial International 22q11.2 Conference, which will take place in Whistler, BC, Canada in July 2018. More information is available on our Whistler 2018 page
  
  
  

• 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.