Webinars
The Garrod Association is pleased to host two sessions during each Leading Strand Series with Canadian College of Medical Geneticists (CCMG). The Can-GARD/CCMG Leading Strand Series is a self-approved group learning activity (Section 1) as defined by the Maintenance of Certification Program of the Royal College of Physicians and Surgeons of Canada.
For more information and to register, please click here.
Friday September 25, 2026 at 12:00pm - 1:00pm ET
Infant: Identifying At-Risk Newborns from the Analysis of Next Generation Sequencing (NGS) Testing
Newborn screening (NBS) identifies babies with treatable rare diseases (RDs) shortly after birth, allowing treatment to begin before symptoms develop. Most of the current 31 NBS RDs are identified via metabolomics. However, the emergence of transformative therapies for non-metabolic RDs has created an urgent need for DNA screening methods. Pilot programs worldwide are assessing next generation sequencing (NGS) in NBS, termed genomic NBS (gNBS), but Canada is behind. The INFANT project is Canada’s first genomic newborn screening (gNBS) pilot, using DNA sequencing to detect a broader range of treatable genetic conditions than current screening methods. Working with experts, patients, and families, the study will create a Canadian panel of conditions for testing and perform whole genome sequencing on 9,000 infants from diverse populations across Ontario, Newfoundland and Labrador, and Qikiqtaaluk. Additionally, analysis of 1,000 infants who received positive results through routine newborn screening will evaluate how gNBS compares with current methods. Overall, gNBS is expected to revolutionize precision health by enabling early detection of an expanding array of treatable RDs, optimizing patient outcomes and reducing health care costs.
Learning Objectives:
- Identify the need and global context for genomic newborn screening
- Describe the INFANT project at NSO
- Consider the ethical considerations and future vision for genomic newborn screening
Speakers: Drs. Neal Sondheimer & Kristin Kernohan
Dr. Neil Sondheimer is a clinical and metabolic geneticist. He completed his subspecialty training at The Children’s Hospital of Philadelphia. He is an Associate Professor at the University of Ottawa in the Department of Paediatrics and is on the medical staff of The Children’s Hospital of Eastern Ontario (CHEO). His research has focused on therapies for inborn errors, newborn screening, and the impact of mitochondrial DNA sequence variants on common and rare disease. Dr. Sondheimer joined NSO in 2024.
Dr. Kristin Kernohan completed her HB.Sc, Honours specialization in Genetics and Ph.D in Biochemistry at the University of Western Ontario. After graduate school she completed a post-doctoral fellowship with Care4Rare and CCMG training at the Children’s Hospital of Eastern Ontario before joining NSO in 2018 and becoming Laboratory Head of Molecular Genetics in 2019. Dr. Kernohan is certified by the Canadian College of Medical Geneticists. Her research interests include the identification of new disease genes and development of new technologies for newborn screening and molecular diagnostics.
Friday November 20, 2026 at 12:30pm - 1:30pm ET
Speaker: Dr. Michal Inbar-Feigenberg.
More information will follow.
Previous Sessions
Friday November 28, 2025
Creatine Deficiency Syndromes
This session will introduce the audience to the physiological role of creatine and to the proteins involved in creatine homeostasis. This session will then exemplify the consequences of genetic defects in creatine metabolism genes, how to diagnose the conditions and how to treat them. In the second part, the session will take the audience on a journey that starts at pathophysiological considerations leading to single-patient treatment attempts, that continues to bed-to-bench clinical research, and that finally opens the path to fundamental basic research.
Learning Objectives:
- Summarize Creatine Deficiency Syndromes.
- Defend the benefit of newborn screening for GAMT deficiency.
- Describe creatine metabolism and its function.
- Practice the path of clinical observation and (patho)physiological consideration to translational research and discovery.
Speaker: Dr. Andreas Schultze
Dr. Andreas Schulze is Professor of Paediatrics and Biochemistry at the University of Toronto. He is Medical Director of the Newborn Screening Program and Senior Associate Scientist in the Research Institute at the Hospital for Sick Children. He is board certified in Physiological Biochemistry and in Pediatrics.
After graduating from Med School with medical diploma and doctorate at the University of Leipzig, Dr. Schulze completed a PhD program in Physiological Biochemistry with summa cum laude. At Ruprecht-Karls University Heidelberg, he received training in Pediatrics, wrote a Professorial Thesis (Habilitation), and received the Venia Legendi.
Since 2007, Dr. Schulze has worked as Clinician Scientist at SickKids in Toronto and established his own research program at the SickKids Research Institute. His research encompasses creatine disorders and creatine homeostasis including arginine-, ornithine-, and guanidino compound metabolism, and small molecule drug discovery.
Friday September 26, 2025
Neurotransmitter Disorders – Updates
This session will provide an introduction to monoamine and amino acid neurotransmitter disorders, and updates on novel diagnoses and therapies.
Learning Objectives:
- Assess patients presenting with symptoms of neurotransmitter disorders.
- Diagnose and treat patients with monoamine and amino acid neurotransmitter deficiencies.
Speaker: Dr. Gabriella Horvath
Bio: Dr. Gabriella Horvath is a Biochemical Geneticist, Clinical Professor at the University of British Columbia, Department of Pediatrics, Division of Biochemical Genetics. She works both in the Pediatric and adult metabolic clinics, and has special interest in neurometabolic disorders.