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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.
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.
Chairman
Pete Scambler
(Trustee)
Deputy Chair
Sixto Garcia-Minaur
(Trustee)
Treasurer
Ann Swillen
(Trustee)
Secretary
Donna McDonald-McGinn
(Trustee)
Damian Heine Suñer
(Trustee)
Anne Bassett
(Trustee)
Joanne Loo
Latest News
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Now Accepting: Late-breaking Research Submissions
We are now accepting up to four 'late-breaking' research findings for platform presentations at the Professional Conference at Whistler. Abstracts with title, author list and affiliations, indicating the presenting author, and whether this is a junior investigator, should be emailed to utsch(at)email.chop.edu by midnight EDT on June 1st, 2018. Each abstract should have 4 sections (maximum 100 words per section): Background, Method, Results, and Conclusions. Late-breaking abstracts not selected for a platform presentation will be presented as posters. -
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 28th 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. -
Early registration 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
Discounts on registration fees are available only until March 15th, 2018. Please register as soon as possible to take advantage of this great deal! -
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.