Our research presentations

This section lists selected presentations of our 22q research results for medical professionals and researchers.

To see presentations tailor-made for individuals with 22q11.2DS, their families and caregivers, or the general public, please go to our presentations page.

Research Presentations in 2023

University of Toronto, Division of General Internal Medicine 2023 Research Day

The cost of aging with complexity for young adults with a model rare disease
Malecki SL, Heung T, Wodchis W, Saskin R, Palma L, Verma AA, Bassett AS.
June 2nd, 2023.
Sarah Malecki received the Dr. Murray Krahn Award for Research in General Internal Medicine for First Place Poster Presentation.
Event agenda

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Research Presentations in 2022

The 12th Biennial International 22q11.2 Conference - Professional Meeting

Split, Croatia
June 29th to July 1st, 2022

Anne Bassett
  • Lifetime Health Care Burden of Adults with 22q11.2 Deletion Syndrome
  • How Adults with 22q11.2 Deletion Syndrome Fared in the COVID-19 Pandemic in Canada
  • Adult Height, Deletion Extent and Short Stature in 22q11.2 Deletion Syndrome
  • Hypothyroidism and Risk of Schizophrenia in Individuals with 22q11.2 Deletion Syndrome
Lisa Palmer
  • Reproductive Outcomes in Adults with 22q11.2 Deletion Syndrome
Samantha D’Arcy
  • Features of 22q11.2 Deletion Syndrome and Transition to Adult Care
  • Nutrition-Related Issues and the Role of the Dietitian for Adults With 22q11.2 Deletion Syndrome
Lily Van
  • Treatment of Schizophrenia in 22q11.2 Deletion Syndrome
Shengjie Ying
  • Influence of Rare and Common Genetic Variation on Dyslipidemia Risk in 22q11.2 Deletion Syndrome

Here are photos of Dr. Anne Bassett and Samantha D’Arcy’s presentations:
Dr. Anne Bassett presenting in the conference

Samantha D'Arcy presenting in the conference
Schizophrenia Research Lunch & Learn

Centre for Addiction and Mental Health
Toronto, ON, Canada
June 6th, 2022

Dopamine 2022 Meeting

Montreal, QC, Canada
May 24th, 2022
Common genetic and pathological drivers of dopamine dysfunction in neuropsychiatric disorders and neurogenerative diseases

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Research Presentations in 2021

Ontario Cleft Lip Palate Speech Language Pathologist Annual Meeting

Invited Presentation (by Zoom)
October 26th, 2021

American Society of Human Genetics (Virtual Conference)

October 18th to 22nd, 2021
Schizophrenia risk mediated by microRNA target genes in 22q11.2 deletion syndrome
PrgmNr 2631
Ying S, Bassett AS.

International Symposium on Adult Congenital Heart Disease (Virtual Conference)

International Society for Adult Congenital Heart Disease
October 13th, 2021
Incidence of infective endocarditis in adults with congenital heart disease and diagnosed 22q11.2 deletion syndrome
Adonis Ng, Tracy Heung, Erwin Oechslin, Jessica Patzer, Anne Bassett
[Abstract PDF]

Infective endocarditis is a life-threatening infection of the bloodstream that settles inside the heart. Our team investigated whether or not the 22q11.2 deletion syndrome is an independent risk factor that increases the likelihood of infective endocarditis in adults with congenital heart disease and 22q compared to those without it. We compared the incidence amongst the consented patients at our clinic to the incidence in the general population. As expected, the incidence was much higher in patients at our clinic, suggesting that 22q should be treated as an independent risk factor for the development of infective endocarditis. Therefore, it’s an important step in advocating for extra attention being paid to these patients in the treatment and prophylaxis (or prevention) of endocarditis.

Adonis received the ISACHD Cardiac Care Professional Research Award for this work. Congratulations!

European Network EnGagE’s (Enhancing Psychiatric Genetic Counselling, Testing, and Training in Europe) educational lecture series

Invited Presentation (webinar by Zoom)
September 30th, 2021

American Psychiatric Association Annual Meeting

May 1st to 3rd, 2021
Treatment resistant major depressive disorder, a rare form of 22q11.2 microdeletion and the efficacy of ketamine treatment.
Kulikowski J, Martin L, Bassett AS.

Genomics of Brain Disorders (Virtual Conference)

Wellcome Genome Campus, UK
April 14th to 16th, 2021
Schizophrenia risk mediated by microRNA target genes in 22q11.2 deletion syndrome.
Ying S, Bassett AS.

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Research Presentations in 2020

International Mental Health VIRTUAL Symposium

The Brain & Behavior Research Foundation
October 30th, 2020
(pre-recorded by Zoom during COVID-19 pandemic)

Dr. Anne Bassett was the 2020 winner of the Lieber Prize for Outstanding Achievement in Schizophrenia Research from the Brain and Behavior Research Foundation. She described her work in a presentation entitled Identifying a Genetic Subtype of Schizophrenia That is Clinically Relevant for Patients and Families.

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Research Presentations in 2019

22q11DS European Conference

Barcelona, Spain
November 16th, 2019

At this annual congress about 22q for families and health professionals, Dr. Bassett presented a keynote presentation about optimizing outcomes for adults with 22q, met with families and participated in workshops.

The 43rd Canadian College of Medical Geneticists (CCMG) Annual Scientific Conference

Niagara Falls, ON, Canada
June 23rd to 25th, 2019

22q11.2 deletion as a genetic model for multimorbidity in young adults
Poster presentation by Tracy Heung

Predictors of all-cause mortality in adults with 22q11.2 deletion syndrome
Poster presentation by Tracy Heung

European Human Genetics (ESHG) Conference

Gotenburg, Sweden
June 15th to 18th, 2019

In this meeting for health professionals who work in human genetics, Dr. Anne Bassett presented on the burden of illness in patients with 22q, how this compares to the general public and how the patterns identified may in the future be used to identify genetic disorders within large populations.

22q11.2 deletion as a genetic model for multimorbidity in young adults. (Poster #P11)
Poster presentation by Dr. Anne Bassett

Determination of disease-associated genes and gene-sets in Tetralogy of Fallot (Poster #P05)
Poster presentation by one of our collaborators, Dr. Roozbeh Manshaei from the Ted Rogers Centre for Heart Research of the Hospital for Sick Children, Toronto.

Global Spine Congress

Toronto, ON, Canada
May 15th to 18th, 2019

Jelle Homans, one of our collaborators and an orthopedics doctor from the Netherlands, gave a presentation on “The correlation between schizophrenia and scoliosis 22q11.2 Deletion Syndrome: Implications for further research?”

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Research Presentations in 2018

The 90th Anniversary of the Biology Society of Chile - Joint Conference

The Biology Society of Chile
The Genetics Society of Chile
The Neuroscience Society of Chile
The Evolution Society of Chile
November 20th, 2018
Conference program (Spanish)

Dr. Erik Boot, our former Dalglish fellow who is specialized in intellectual disabilities, presented “22q11.2 deletion syndrome and Parkinson disease.” to the attendees of this conference.

The 3rd Scientific 22q11 Seminar for Families and Professionals

Center of Genetics and Genomics, Faculty of Medicine, Universidad del Desarrollo, Chile
November 16th, 2018

Dr. Erik Boot, our former Dalglish fellow who is specialized in intellectual disabilities, presented “22q11.2 deletion syndrome: A clinically identifiable model for early-onset Parkinson’s disease” to faculty members.

The 11th Biennial International 22q11.2 Conference - Professional Meeting

Whistler, BC, Canada
July 11th to 13th, 2018
Complete program with abstracts

The following list includes presentations by staff, students, and residents at both the Dalglish Family 22q Clinic and the Clinical Genetics Research Program (CGRP) at the Centre for Addiction and Mental Health (CAMH)

Anne Bassett
Spencer van Mil
Erik Boot
Elemi Breetvelt
Ania Fiksinski
Tracy Heung
Joanne Loo
Lisa Palmer
Lily Van
Samantha D’Arcy
Advanced Issues in Dual Diagnosis

Centre for Addiction and Mental health Dual Diagnosis Specialty Service
March 21st, 2018

In this meeting for professionals working with patients with complex developmental and mental health issues, our Clinic fellow, Dr. Elemi Breetvelt, spoke about “22q11 Deletion Syndrome and the Criminal Justice System”. He provided insight on issues that may arise when law enforcement officers interact with adults with 22q.

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Research Presentations in 2017

American Society of Human Genetics 2017 Meeting

Orlando, Florida, USA
October 17th to 21st, 2017
Program number: 2683

Primary lymphedema: A novel association with 22q11.2 deletion syndrome

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Research presentations in 2016

Two-Day Workshop on 22q11.2 Deletion Syndrome

Hong Kong, China
December 1st to 2nd, 2016

On the first day, Dr. Bassett gave a lecture on brain and behaviour and adult complications as part of the programme on the clinical aspects of 22q11.2DS. On the second day, she talked about 22q11.2DS as a model for studying schizophrenia. She also played an important role in the discussions on how to set up a 22q11.2DS multidisciplinary clinic.

Schizophrenia Society of Canada National Conference

Halifax, Nova Scotia, Canada
October 27th, 2016

Dr. Bassett presented as the keynote speaker in this conference, delivering a talk about the clinical application of genetics for schizophrenia. She detailed clinical genetic testing and what the current standards of care are, and gave practical examples of how this relates to individuals with 22q.

American Society of Human Genetics 2016 Meeting

Vancouver, British Columbia, Canada
October 20th, 2016

Dr. Bassett presented a study that showed significantly higher prevalence of obesity in individuals with 22q11.2DS compared to the Canadian norm. Psychotropic medication and age were associated with higher obesity levels. (Program number: 3308T)

The 10th Biennial International 22q11.2 Conference

Sirmione, Italy
July 20th to 22nd, 2016

At this international 22q meeting, Dr. Bassett presented on rare copy number variations in 22q with and without schizophrenia. Dr. Boot presented on movement abnormalities in 22q. Clinic social worker Lisa Palmer presented on the “diagnostic odyssey” of patients with 22q and her work on attempting to better understand psychosexual knowledge in people with 22q. Past, current and future students and trainees Dr. Elemi Breetvelt, Ania Fiksinski, Sarah Voll and Nancy Butcher also presented on 22q!

Society of Biological Psychiatry Annual Scientific Convention

Atlanta, Georgia, USA
May 12th to 14th, 2016

At this annual meeting, Dr. Bassett presented along with Dr. Erik Boot and other 22q researchers on 22q as a valuable model for understanding schizophrenia, parkinson’s disease and other neuropsychiatric disorders. The presenters demonstrated how early changes to the brain can be identified in individuals with 22q, which may be able to help us find pre-diagnostic signs of disease and new targets for treatment

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Research Presentations in 2015

Society of Biological Psychiatry 70th Annual Scientific Meeting

Toronto, Ontario, Canada
May 16th, 2015

Dr. Bassett presented at this annual meeting the results of a study which investigating the link between 22q11.2 deletions and risk for schizophrenia during pregnancy. Nancy Butcher also presented her results on use of clozapine in schizophrenia for individuals with 22q11.2DS.

72nd Annual Meeting & Pre-Conference Symposia of the American Cleft Palate-Craniofacial Association

Palm Springs, California, USA
April 20, 2015

Alongside our collaborator Donna McDonald-McGinn, Dr. Bassett presented the results of the practice guidelines for managing patients with 22q11.2DS and how this relates to the assessment and treatment of palatal abnormalities. Here is the abstract.

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Research Presentations in 2014

University of Hong Kong Grand Rounds

Hong Kong, China
November 6th, 2014

At the University of Hong Kong Grand Rounds, Dr. Bassett presented the latest research on 22q11.2DS and the genetics of congenital cardiac disease.

22q11.2 Deletion Syndrome International Meeting

Mallorca, Spain
June 19, 2014

At this biennial international 22q11.2DS meeting, Dr. Bassett presented on antipsychotic treatment with clozapine in adults with 22q, and how to use a model of personalized care with patients.

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