Telehealth for Genetics Residents and Fellows. A monthly teaching session brought to you by the members of the RCPSC Specialty Committee in Medical Genetics.

June 18

Speaker: Sébastien Jacquemont
Topic: Our current understanding of the genetic architecture of neurodevelopmental and psychiatric conditions

1) Understand the genetic contribution to cognitive and behavioral traits as well as psychiatric conditions.
2) Understand genetic correlations between psychiatric conditions and traits.
3) Understand additive models: Used to develop polygenic risk scores and develop models to predict CNV effects on cognition.
4) Understand genetic fitness, intolerance to haploinsufficiency, de novo frequency, and relationship with phenotype.

Sébastien Jacquemont is a medical geneticist at the St. Justine Hospital and associate professor in the department of pediatrics, University of Montreal. He holds a Canadian research chair, a JJL Levesque chair in the genetics of neurodevelopmental and psychiatric disorders. SJ was trained as a medical geneticist in Nantes and Paris, France, and subsequently completed a research fellowship in developmental pediatrics at the MIND Institute, UC Davis. His group is interested in mapping the effects of rare variants on cognitive, behavioral, and brain dimensions (neuroimaging derived measures) using large population and patient cohorts. He currently co-leads the Genome to mental health, a network investigating, a newly funded NIMH initiative that will collect, share and analyze large-scale datasets combining genomics and dimensional measures of psychopathology spanning diverse populations and geography. His group is also actively working on drug development programs and clinical trials in fragile X syndrome

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Past TeleGraf events:

September 18

October 16

Speaker: Dr. Amanda Barlow
Topic: Hereditary Aortopathies

1.) Describe an overview of hereditary aortopathies that you encounter
2.) Describe the heritable aortopathy clinic at St Paul's Hospital from the points of view of staffing, services, patients and care models
3.) Describe your program's inclusion and exclusion criteria for referral and practices around genetic testing
4.) Describe how care for hereditary aortopathies is best distributed between cardiologists with special interests such as in your program, and geneticists. Provide cases exemplars your clinic is managing without geneticists' input, and contrast to case exemplars were your clinic is requesting geneticists' input
5.) Discuss future diagnostic, screening and treatment modalities for patients with hereditary aortopathies.

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November 20

December 18 - 11:00 AM ET

Speaker: Lucas Bronicki, PhD, FACMG, DABMGG
Topic: Hunting Genes of Uncertain Significance: How ClinGen’s Standardized Framework For Gene-Disease Validity is Revolutionizing Clinical Genetic Testing

1.) Understand ClinGen's standardized framework to establish the clinical validity of gene-disease pairs. 
2.) Effect of ClinGen's gene-disease validity approach on clinical genetic testing

Dr. Bronicki is an Associate Head Clinical Scientist at the children's hospital CHEO, in Ottawa, Ontario, Canada. His clinical and research interests are focused on developing novel and cutting-edge molecular genetics diagnostic tests and improving the quality of clinical genetics laboratory results. His expertise in clinical molecular genetics include various modalities of testing, including next generation-sequencing and pharmacogenomics, for a variety of conditions, with a focus on cardiomyopathies, thoracic aortic aneurysm and dissections (TAAD) and hereditary myopathies. Additionally, he has strong interest in developing standardized and gene-specific workflows to facilitate genetic variant interpretation and determining gene-disease validity, particularly for cardiomyopathy, TAAD and hereditary myopathy -related genes.

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January 15 - 11:00 AM ET


Speaker: Dr. Renee Perrier
Topic: Approach to cafe au lait macules

1.) Know differential diagnosis for genetic disorders associated with café au lait macules.
2.) Review appropriate investigations for patients with multiple café au lait macules.

Dr Perrier is a clinical geneticist in Calgary with particular interest in genodermatoses and tumor predisposition syndromes. She is the medical lead for the Hereditary Cancer Clinic, and also involved in undergraduate medical education.

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February 19

Speaker: Myriam Srour, MD CM, PhD
Topic: Diagnostic approach to cerebellar malformations

1.) To recognize the different subtypes of cerebellar malformations based on imaging patterns.
2.) To be able to make predictions of clinical outcomes based on cerebellar malformation subtype.
3.) To perform initial work-up in individuals with cerebellar malformations .
Myriam Srour is an Associate Professor in the Departments of Pediatrics, Neurology and Neurosurgery at McGill University. She is a Pediatric Neurologist and Clinician Researcher at the Montreal Children’s Hospital, McGill University Health Center. She completed her MD and Pediatric Neurology training at McGill University, then obtained a Neurogenetics Fellowship and PhD in Molecular Biology at the Université de Montréal. She is the director of the Neurogenetics and Brain Malformation Clinics at the MCH-MUHC. Her research program is focused on the study of the clinical, pathophysiological and genetic mechanisms underlying disorders of brain development. She has identified multiple novel neurodevelopmental disease genes, such as C5ORF42, CEP104 and TMEM231 responsible for Joubert syndrome, RARB for PDAC syndrome, SLC45A1 for intellectual disability and neuropsychiatry features, DCC for mirror movements and CDH2 for agenesis of the corpus callosum and axonal guidance defects.

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 March 19

OSCE - cancelled

April 16

Speaker: Dr. Victoria Siu
Topic: Cultural competency and the approach to diagnosis and management of genetic disorders in the Amish and Mennonite populations in Canada

1.) Understand the cultural background and traditions of the Amish and Mennnonite communities in Canada and how these impact provision of genetics services
2.) Recognize specific features which may aid in the diagnosis of genetic disorders in these populations
3.) Know where to access various unique resources to assist in the diagnosis of genetic disorders


Dr. Siu received her MD from the University of Toronto in 1982 where she was taught medical genetics by Dr. Margaret Thompson and anatomy by Dr. James Thompson (Genetics in Medicine – Thompson and Thompson). She did one year of a family practice residency, then switched into a pediatrics residency at Sickkids in Toronto. Her first rotation as a pediatrics resident was in Sioux Lookout where she had the opportunity to learn about healthcare in the Indigenous communities of Northern Ontario. She completed her second and third years of pediatrics in London, Ontario, then pursued CCMG fellowship training in Toronto and London. She is keenly interested in medical education and was responsible for the medical genetics curriculum at the University of Western Ontario for 20 years. Her main research interest has been in the identification of new genes through the FORGE and Care4Rare Projects and more recently, in the identification and utilization of methylation patterns (episignatures) in the diagnosis of epigenetic disorders. Together with Dr. Tony Rupar, she has established successful newborn and carrier screening for genetic disorders in the Amish and Mennonite communities in southwestern Ontario and created the Amish, Mennonite, and Hutterite Genetic Disorders database (

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May 14

Speaker: Dr. Edward Leung
Topic: Spinal Muscular Atrophy: Current and Emerging Therapies

1.) Review clinical presentation of spinal muscular atrophy
2.) Discuss pathophysiology in spinal muscular atrophy
3.) Review current disease-modifying therapies in spinal muscular atrophy
4.) Review experimental disease-modifying therapeutic strategies in spinal muscular atrophy

Dr. Edward Leung is a pediatric neurologist and the section head of pediatric neurology at University of Manitoba. He completed his medical school at the University of Toronto, his pediatrics residency at the University of Saskatchewan and his pediatric neurology fellowship at the Mayo Clinic. He completed a clinical research fellowship on MR spectroscopy neuroimaging and glutaric acidemia type 1 at the University of Manitoba. His research interest is in neurogenetic diseases.

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After registering, you will receive a confirmation email containing information about joining the webinar.

After registering, you will receive a confirmation email containing information about joining the webinar.

Save the Dates!

TeleGraf and Leading Strand Educational Webinars will return in the fall 2021.

45th Annual Scientific Meeting – May 31 – June 3, 2021Presented Virtually

Annual General Meeting was presented virtually on June 16, 2021 - 01:00 PM ET