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

May 14
Manitoba

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

Objectives:
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

Biography:
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.

Register in advance for this webinar:

https://zoom.us/webinar/register/WN_YIrTjUeoRsKcYbnUKbFu6Q

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

June 18
U of M

Past TeleGraf events:

September 18
Deferred

October 16
UBC

Speaker: Dr. Amanda Barlow
Topic: Hereditary Aortopathies

Objectives:
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.

Register in advance for this webinar:

https://zoom.us/webinar/register/WN_DW9IAaz7QvWrZmrkRCQWwA

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

 

November 20
OSCE

December 18 - 11:00 AM ET
Ottawa

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

Objectives:
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

Biography:
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.

Register in advance for this webinar:

https://zoom.us/webinar/register/WN_J29Zl-hMSmKdTY5JaV6Tkg

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

 

January 15 - 11:00 AM ET

Calgary

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

Objectives:
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.

Biography:
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.

Register to join:

https://zoom.us/webinar/register/WN_YEiI1XTiRPm-frBVmZzpWA

February 19
McGill

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

Objectives:
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 .
Biography:
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.

Register to join:

https://zoom.us/webinar/register/WN_a4h7GKx6RDWA8ld_LQpr7A

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

 March 19

OSCE - cancelled

April 16
Toronto

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

Objectives:
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

Biography:

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 (www.biochemgenetics.ca/plainpeople).

Register in advance for this webinar:

https://zoom.us/webinar/register/WN_lUZZDeCVTWqDAyc-Kq_IBg

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

Save the Dates!

Telegraf Series – June 18, 2021 – 11:00 AM ET – registration to come

Can-GARD/CCMG The Leading Strand Series – June 25, 2021 – 12:00 PM ET – registration to come

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

Annual General Meeting – June 16, 2021 - 01:00 PM ETRegister & View AGM Documents here (you must log in to access)