Audience

Garrod Symposium
Thursday, May 12, 2022

12:00–4:30 PM

Registration 

(Main Foyer)

4:30–4:45

Welcome to Garrod Symposium 

(Wildrose Room Centre & South)

David Sinasac, PhD, FCCMG – Chair

Biochemical Geneticist, Genetics & Genomic (South)

Alberta Precision Laboratories and

Clinical Associate Professor, Department of Medical Genetics

University of Calgary, Calgary, Alberta

 

Andreas Schulze, MD, PhD, FRCPC

President of Garrod Association

Professor Paediatrics and Biochemistry, University of Toronto, Toronto, ON

 

4:45–5:30

Opening Talk

 

Session Chair: Jagdeep Walia

(Room: Wildrose Centre & South)

 

Approaches to Gene Therapy in IEMs 

Steven Gray, PhD

Associate Professor, Department of Pediatrics

Eugene McDermott Center for Human Growth and Development

Molecular Biology, Neurology

University of Texas Southwestern Medical Center

By attending this session, participants will be able to:

  • Identify how adeno-associated viruses (AAV) are used as gene therapy vectors.

  • Recognize the potential and limitations of AAV vectors to treat neurological diseases, specifically certain IEMs

 

Platform Presentations

Session Chair: Christy Gilkes

5:30–5:45 

Late-onset ornithine transcarbamylase deficiency: biochemical, clinical, and functional consequences of a novel regulatory region variant

Samuel Tholl, Chitra Prasad

5:45–6:00

Long-term follow-up and treatment outcome of primary biopterin deficiencies. 

Vancouver experience

Gabriella Horvath

6:00–6:15

Efficacy and safety of the recommended pegvaliase dosing regimen in adults with phenylketonuria in the phase 3 PRISM studies

Kristin Lindstrom, Stephanie Sacharow, Hope Northrup, Kaleigh Whitehall, Richard Rowell,

Barbara Burton, Janet Thomas

6:30–8:00

Welcome Reception

(Room: Main Foyer)

7:30–9:30 

Garrod Board of Directors Meeting (Invitation Only)

(Calypso Room)