Have you ever wondered how far we have come in discovering knowledge around 22q11.2 deletion syndrome and building our support community?

Recently, the Journal of Medical Genetics (JMG) published the Six at Sixty series to reflect on key achievements and highlight some of the most influential research in the past 60 years.  Professor Peter Scambler, from University College London in the UK, a founder and first chair of the 22q11.2 Society and a member of our Foundation’s Medical Advisory Board, was invited to write a commentary on 22q11.2DS.  He wrote about the early years when his team (and a separate team involving our founding board member, Professor Donna McDonald-McGinn from the Children’s Hospital of Philadelphia in the USA) published landmark studies on the clinical features associated with 22q11.2DS.  Be sure to check out his commentary to find out more.  You can also read about the start of the international conferences as well as the awareness and support initiatives.

Six at Sixty. ‘Have you tested for 22q?’ –  Commentary (2025) by Peter Scambler; part of the Six at Sixty series and the February 2025 edition of JMG

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study – Research report (1997) by a team led by Peter Scambler

The 22q11.2 Deletion: Screening, Diagnostic Workup, and Outcome of Results; Report on 181 Patients – Research report (1997) led by Donna McDonald-McGinn

Same Name Campaign – Initiated by Donna McDonald-McGinn and our Foundation, also part of the website of the Dalglish Family 22q Clinic, Toronto, Canada; includes historical information on 22q11.2DS