CCMG Virtual Symposium

This symposium will offer three different sessions to highlight expert panels with representation from Canada, USA, and Europe, followed by Q&A.

To register for the symposium, click the button below or go to https://us06web.zoom.us/webinar/register/WN_Hu9KT_cbSUKg_NEvi_M4tA.

 

 

 

 

This event is an Accredited Group Learning Activity (Section 1) as defined by the Maintenance of Certification Program of the Royal College of Physicians and Surgeons of Canada and approved by the Canadian Association of Pathologists-Association canadienne des pathologistes. You may claim a maximum of 3.0 hours (credits are automatically calculated).

Through an agreement between the Royal College of Physicians and Surgeons of Canada and the American Medical Association, physicians may convert Royal College MOC credits to AMA PRA Category 1 Credits. Information on the process to convert Royal College MOC credit to AMA credit can be found at www.ama-assn.org/go/internationalcme. Live educational activities recognized by the Royal College of Physicians and Surgeons of Canada as Accredited Group Learning Activities are eligible.

Learning Objectives:
1. Provide a landscape for the role that Canadian Clinical Geneticists could play in implementing therapeutics, with national and international examples of work in progress.

2. Explore the role that general geneticists may wish to have in this field, working with colleagues from other branches of medicine, and/or providing counseling and education.

3. Set the ground for a framework on therapies in genetics through collaborations at the national and international level.

Program:

Panel 1 – 10:00am – 11:00am ET
Experts on Genetic Treatments – Brief Talks

Speakers:
• Dr. Robert Hufnagel
• Dr. Cam-Tu Émilie Nguyen
• Dr. Charles Venditti

This panel will describe the speakers’ overall experience from clinical trials to clinical integration. This could include clinical trials experience, application process to FDA/Health Canada, approval, post-approval experience in terms of implementation and follow-up, with a focus on summarizing processes, challenges, successes, low hanging fruits, key players needed, timelines.

Panel 2 – 11:15am – 12:15pm ET
What has been the experience so far, what is our role as medical providers going forward?

Speakers:
• Dr. Marc Williams
• Dr. Saskia Koene
• Dr. Leanne Ward

This panel will be based on the experience to date, it will discuss what is realistic with regards to genetic therapies and role of geneticists, clinical integration, and special training. It will discuss how the integration of therapies might change the scope of practice for medical geneticists. This will focus on the challenges and opportunities, including what diseases to focus on and whether a connection with newborn screening applies. 

Panel 3 – 12:30pm – 2:00pm ET
The Interest of Canadian Geneticists on Therapies

Speakers:
• Dr. Yannis Trakadis
• Dr. Julie Lander Porter
• Breanne Stewart
• Dr. Thierry Lacaze

This panel will present survey results describing what medical geneticists and other specialists think about the role of medical geneticists in this area and introduce the Health Canada representative. A fellow’s experience undergoing Fellowship training in Pediatric Genomics and Gene Therapy and suggestions for optimization/future directions will be discussed. 

Meet the Speakers

Dr. Robert Hufnagel is a physician-scientist who joined the Center for Integrated Healthcare Research in 2023. After receiving his M.D. and Ph.D. from the University of Cincinnati (Cincinnati, Ohio), he completed his Pediatrics and Clinical Genetics residency at Cincinnati Children’s Hospital, followed by fellowships in Clinical Ophthalmic Genetics at the National Eye Institute (NEI/NIH) and Clinical Molecular Genetics and Genomics at the National Human Genome Research Institute (NHGRI/NIH).

His research is dedicated to improving utilization of genomic data in medicine at point-of-care. Research focuses include the role of genome sequencing for rare and common diseases, models for variant classification of pathogenicity, and genotype-first approaches to diagnosis and management. These projects combine clinical data, biostatistics, and high-throughput sequencing analysis to establish patient-centered disease models for translational and preclinical studies.

Dr. Hufnagel also serves in leadership roles in several clinical and research organizations, including the American College of Medical Genetics and Genomics (ACMG), the Clinical Genome Resource (ClinGen), the Association for Research in Vision and Ophthalmology (ARVO), and the Foundation Fighting Blindness (FFB). For more information on Dr. Hufnagel’s work, please click here. 

Dr. Saskia Koene is a clinical geneticist in the Netherlands with special interest in children with neurodevelopmental disorders. As a scientist, Dr. Koene is combining her experience during her PhD with her experience in paediatrics (2010-2018), clinical pharmacology and clinical genetics. Dr. Koene was in the Netherlands Medical Genetics committee that developed the statement on therapeutics and medical genetics.

 

Dr. Thierry Lacaze is the RareKids-CAN: Pediatric Rare Disease Clinical Trials and Treatment Network Nominated Principal Investigator and the Scientific Director of the Maternal Infant Child and Youth Research Network since 2018. Dr. Lacaze is a neonatologist by training and Clinical Professor of Pediatrics at the University of Calgary.

 

 

Dr. Cam-Tu Émilie Nguyen, MD is a pediatric neurologist and medical director of the Neuromuscular clinic at CHU Sainte-Justine (Montreal, QC). She is known for her innovative approaches to improving the health and quality of life of children with chronic neuromuscular conditions. Dr. Nguyen leads efforts in early detection and treatment of spinal muscular atrophy (SMA), having developed a treatment program that has delivered over 200 life-changing interventions for severely ill children. Dr. Nguyen has been instrumental in implementing new genetic therapies for SMA.

In 2023, she was named Early Career Clinical Researcher of the Year by the Neuromuscular Disease Network for Canada. Last year, she received the Distinction award from the Collège des Médecins du Québec in the Relève category.

 

Dr. Julie Porter (formerly Julie Lander)  was born in Alberta, Canada, and grew up in Texas. She completed her PhD in Molecular and Developmental Biology at the University of Cincinnati in 2017, and her MD also from Cincinnati in 2019. She completed a combined residency in Pediatrics and Human Genetics at Cincinnati Children’s Hospital in 2023. Following this, she moved to Utah for fellowships in Medical Biochemical Genetics and her current fellowship in Pediatric Genomics and Gene Therapy. Julie’s career interests include the treatment of rare diseases, particularly in the field of metabolic disorders. She is engaged in several clinical trials, including those for gene therapy, and is particularly interested in safe implementation of gene therapy.

 

 

Breanne Stewart (BSc, BScN, RN) serves as the Network Director for RareKids-CAN: Pediatric Rare Disease Clinical Trials and Treatment Network- she provides strategic leadership, oversees operations, and drives collaboration within the network. With a focus on shaping RareKids-CAN’s direction, Breanne is dedicated to fostering partnerships and ensuring the delivery of high-quality clinical trials and innovative research initiatives for individuals affected by rare diseases. Having joined MICYRN in 2018 as the inaugural Associate Director of Clinical Trials, Breanne is deeply passionate about optimizing research processes in Canada to ensure timely and efficient treatment and access to therapies for patients and their families.

 

Dr. Yannis Trakadis, MD MSc is a medical geneticist and Associate Professor at McGill university. Dr. Trakadis serves as chair of the CCMG Metabolic Genetics Committee. His academic interests include the clinical integration of novel technologies, targeted treatments, and artificial intelligence (AI). Dr. Trakadis founded M.D.CyberAssistant Inc., demonstrating his commitment to digital health innovation to help patients and physicians. Committed to the ethical advancement of precision medicine, Dr. Trakadis aims to improve patient care and alleviate suffering, using AI-powered tools.

 

 

Dr. Charles P. Venditti, a clinical and biochemical geneticist, is a Senior Investigator and Chief of the Metabolic Medicine Branch in the National Human Genome Research Institute at the National Institutes of Health in Bethesda, MD. He has developed a translational research program to study the natural history of the hereditary methylmalonic acidemias (MMA), cobalamin metabolic disorders, and propionic acidemia (PA). His laboratory is developing gene, cell and small molecules therapeutics to treat MMA and PA.

Dr. Venditti has received numerous awards, including a Presidential Early Career Award for Scientists and Engineers, the US Government’s highest honor for early-career scientists. He serves on numerous medical, advisory and editorial boards, and is a frequent ad hoc reviewer for local, national, and international granting agencies. He has authored more than 250 peer reviewed research articles, reviews, textbook chapters, and patents.

 

Dr. Leanne Ward is a Professor of Pediatrics in the Faculty of Medicine at the University of Ottawa where she holds a Tier 1 Research Chair in Pediatric Bone Disorders. Dr. Ward’s research program is dedicated to the diagnosis and treatment of childhood-onset bone disorders including skeletal dysplasias, bone fragility and mineralization disorders, and osteoporosis due to chronic illnesses. The Ward lab has a particular focus on therapeutic trials in childhood-onset bone disorders, emphasizing skeletal health outcomes quantified through central skeletal imaging, and the study of novel drugs to mitigate the functional consequences of rare bone diseases. Dr. Ward is the Lead for the Innovative Therapies pillar within the Canadian Rare Disease Network (CRDN).

 

Dr. Marc S. Williams, MD, FAAP, FACMG, FACMI is a clinical geneticist and research scientist. He is professor and director emeritus of Geisinger’s Department of Genomic Health. He is on the NHGRI Genomic Medicine working group. He was a member of the Secretary’s Advisory Committee for Genetics, Health and Society. He served as president of the American College of Medical Genetics and Genomics. He is funded through an NHGRI genomic learning healthcare system grant. He has authored over 250 articles on a variety of topics including the economic evaluation and value of genetic services, implementation of genomic medicine, the use of informatics to facilitate genomic medicine and precision health, and genomic learning health systems.

Presenters without Conflicts of Interest
Dr. Robert Hufnagel
Dr. Saskia Koene
Dr. Julie Lander Porter
Dr. Yannis Trakadis
Dr. Marc Williams

Presenters with Conflicts of Interest
Dr. Thierry Lacaze
Name of for-profit or not-for-profit organization(s): MICYRN, the Maternal Infant Child and Youth Research Network
Description of relationship(s): Scientific Director

Dr. Cam-Tu Émilie Nguyen
Name of for-profit or not-for-profit organization(s): PTC
Description of relationship(s): Sub-investigator for a Friedreich’s Ataxia clinical trial at CHU Sainte-Justine

Breanne Stewart
Name of for-profit or not-for-profit organization(s) : Maternal Infant Child and Youth Research Network (MICYRN)
Description of relationship(s) : Network Director
Name of for-profit or not-for-profit organization(s) : MICYRN/RareKids-CAN
Description of relationship(s) : Network Director

Dr. Charles Venditti
Name of for-profit or not-for-profit organization(s) : Addition Therapeutics
Description of relationship(s) : sponsored research

Dr. Leanne Ward
Name of for-profit or not-for-profit organization(s) : Ascendis, Alexion, QED, Ultragenyx, Edgewise, Ascendis, Roche, and Catalyst
Description of relationship(s) : With funds to Dr. Ward’s institution
Name of for-profit or not-for-profit organization(s) : Amgen, Ultragenyx, Kyowa Kirin, Roche, Angitia, Santhera, Ipsen, and
Catalyst
Description of relationship(s) : Consultancy, DMC or Advisory Boards, with funds to Dr. Ward’s institution

Thank you to our Planning Committee:
Dr. Oana Caluseriu, President, on behalf of the Board of Directors and Dr. Yannis Trakadis, Chair, on behalf of the Metabolic Genetics Committee.