This series is for genetics health professionals led by the Canadian College of Medical Genetics and co-sponsored by Can-GARD. Speakers will be translation-focused researchers, clinicians and innovators. The series will help attendees anticipate, access, and apply new approaches and technologies for patient care.
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.
To register, click the button below or go to: https://us06web.zoom.us/webinar/register/WN_e2yO6xnsSK2v70BLslqwjA
2025-2026 Leading Strand from 12:00pm – 1:00pm ET on:
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.
