The Dalglish Family 22q Clinic

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 2^nd, 2023.
Sarah Malecki received the Dr. Murray Krahn Award for Research in General Internal Medicine for First Place Poster Presentation.
Event agenda

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

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

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:

Schizophrenia Research Lunch & Learn

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

Dopamine 2022 Meeting

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

Ontario Cleft Lip Palate Speech Language Pathologist Annual Meeting

Invited Presentation (by Zoom)
October 26^th, 2021

American Society of Human Genetics (Virtual Conference)

October 18^th to 22^nd, 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 13^th, 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 30^th, 2021

American Psychiatric Association Annual Meeting

May 1^st to 3^rd, 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 14^th to 16^th, 2021
Schizophrenia risk mediated by microRNA target genes in 22q11.2 deletion syndrome.
Ying S, Bassett AS.

International Mental Health VIRTUAL Symposium

The Brain & Behavior Research Foundation
October 30^th, 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.

22q11DS European Conference

Barcelona, Spain
November 16^th, 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 43^rd Canadian College of Medical Geneticists (CCMG) Annual Scientific Conference

Niagara Falls, ON, Canada
June 23^rd to 25^th, 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 15^th to 18^th, 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 15^th to 18^th, 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?”

The 90^th 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 20^th, 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 3^rd Scientific 22q11 Seminar for Families and Professionals

Center of Genetics and Genomics, Faculty of Medicine, Universidad del Desarrollo, Chile
November 16^th, 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 11^th Biennial International 22q11.2 Conference - Professional Meeting

Whistler, BC, Canada
July 11^th to 13^th, 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

• Bedside to Bench and Back Again - A Caregiver’s Tale (Invited Speaker; Abstract #1)

• Medical Multimorbidity in Adults with 22q11.2DS (Abstract #92)

• Schizophrenia-Relevant Collections of Genes from the Rest of the Genome Contribute to Schizophrenia Expression in 22q11.2DS (Abstract #108)

Spencer van Mil

• Late Mortality in a Genetic Subtype of Tetralogy of Fallot (Abstract #32)

Erik Boot

• Endocrine Alterations in Adults with 22q11.2DS (Abstract #35)

• Parkinsonian Motor Features in Adults with 22q11.2DS (Abstract #82)

Elemi Breetvelt

• A Normative Chart for Cognitive Development in 22q11DS: Implications for 22q11DS and Beyond (Abstract #54)

• Burden of Rare Coding Variants in the 22q11.2 Deletion Region is Associated with Educational Attainment and Schizophrenia Risk in Two General Population Cohorts (Abstract #72)

Ania Fiksinski

• The Impact of Parental IQ on the Variable Penetrance of Intellectual Impairment in 22q11DS (Abstract #55)

• Trajectories of Processing Speed and Risk for Psychotic Disorders in 22q11DS: A Longitudinal Study (Abstract #60)

• Neurocognition and Adaptive Functioning in a Genetic High-Risk Model of Schizophrenia (Poster; Abstract #139)

Tracy Heung

• Predictors of All-Cause Mortality in Adults with 22q11.2DS (Abstract #91)

Joanne Loo

• 22q11.2 Society Website Update

• Personalized Medical Information Cards for Adults with 22q11.2DS (Abstract #93)

Lisa Palmer

• Identifying Issues Related to Sexual Health in Adults with 22q11.2DS (Abstract #96)

Lily Van

• Treatment of Schizophrenia in 22q11.2DS (Poster; Abstract #142)

Samantha D’Arcy

• Characterizing Cooking Habits and Confidence in Food Skills in Adults with 22q11.2DS (Poster; Abstract #144)

Advanced Issues in Dual Diagnosis

Centre for Addiction and Mental health Dual Diagnosis Specialty Service
Toronto
March 21^st, 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.

American Society of Human Genetics 2017 Meeting

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

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

Two-Day Workshop on 22q11.2 Deletion Syndrome

Hong Kong, China
December 1^st to 2^nd, 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 27^th, 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 20^th, 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 10^th Biennial International 22q11.2 Conference

Sirmione, Italy
July 20^th to 22^nd, 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 12^th to 14^th, 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

Society of Biological Psychiatry 70^th Annual Scientific Meeting

Toronto, Ontario, Canada
May 16^th, 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.

72^nd 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.

University of Hong Kong Grand Rounds

Hong Kong, China
November 6^th, 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.