About this series – Telehealth for Genetics Residents and Fellows. A monthly teaching session brought to you by the members of the RCPSC Specialty Committee in Medical Genetics.
To register, click the button below or go to https://us06web.zoom.us/webinar/register/WN_2LAO5jlHSQ-WA_xonc9ouA.
2025-2026 TeleGraf from 11:00am – 12:00pm ET on:
Friday, June 19, 2026
What is the Outcome? The Role of Natural History Studies in Clinical Trial Design for Genetic Disorders
Therapy development for genetic disorders is accelerating. Regulatory approval of new therapeutics requires documentation of an effect on clinically-relevant outcome measures. For many rare genetic disorders, identifying a key outcome measure requires better knowledge of the natural history of the disease. This presentation will explain the challenges in therapy development for rare diseases and illustrate how natural history studies are essential to overcome some of these obstacles.
Learning Objectives:
- Assess the potential usefulness in clinical trials of clinically-relevant outcome measures
- Describe the role of natural history studies in identifying clinically-relevant outcome measures
Speaker: Dr. Francis Rossignol
Dr. Rossignol attended medical school at the Université de Sherbrooke (2009-2013). He completed his residency in Medical Genetics and Genomics from the Université de Montréal (2013-2018); fellowship in Medical Biochemical Genetics (2018-2019) and Clinical Biochemical Genetics (2019-2020), from the National Human Genome Research Institute (NHGRI). Between 2020 and 2025, he was a staff clinician in the Undiagnosed Diseases Program and in the Human Biochemical Genetics Section at NHGRI, under Dr. William Gahl. Since 2025, he joined the Medical Genetics Service and serves as the Laboratory Director of the Biochemical Genetics Laboratory at CHU Sainte-Justine.
His research focuses on the natural history, the development of outcome measures and clinical trial design and conduct in inherited metabolic diseases.
