Garrod Symposium Agendas
Thursday, May 8, 2025
11:00–1:00
Registration open
12:00
Lunch
12:20–12:25
Welcome to the symposium
Gabriella Horvath, Conference Chair
12:30–1:15
Lightening talks
1:15–1:30
Break
Session 1: Understanding Cellular Models in Preclinical Stages of Drug Design, Orphan Drug Development and Precision Therapy in Rare Disorders.
Moderator: Anna Lehman
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1:30–2:10
Precision therapy in rare disorders
Arginase 1 deficiency treatment
Andreas Schulze
30-minute talk and 10 minutes Q & A
2:10–2:50
RNA lipid particle platform
RNA lipid nanoparticle (treatment in liver-based metabolic disease)
Neel Mehta
30-minute talk and 10 minutes Q & A
2:50–3:30
Cellular models in precision therapy in IMD (iPSC)
Mouse model and iPSCs in PDE deficiency
Blair Levitt
30-minute talk and 10 minutes Q & A
3:30–4:00
Afternoon break | Visit posterboards
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Session 2: Biomarker Development for Clinical Trials, Limitations and Challenges
Moderator: Graham Sinclair
4:00–4:40
Protein-based biomarkers
Emerging blood biomarkers of neuronal injury and inflammation
Yara Alkhodair
30-minute talk and 10 minutes Q & A
4:40–4:55 – Abstract submission
Optimization and validation of the Kairos Amino Acid Kit for plasma amino acid monitoring in inherited metabolic disorder patients.
Kiara Theron
15-minute talk
4:55–5:10 – Abstract submission
Mitochondrial Complex V Deficiency Due to a Homozygous Splice Variant in the ATP5PO Gene
Zainab Al Masseri
15-minute talk
5:10–5:25 – Abstract submission
A rare case of VARS-related neurodevelopmental disorder with dystonic storm and oculogyric crisis.
Sharmeen Nasir
15-minute talk
5:25–6:00
In-vivo stable isotope based functional bio-markers for improving nutritional therapies in inborn errors of metabolism
Rajavel Elango and Sylvia Stockler-Ipsiroglu
30-minute talk and 5 minutes Q & A
6:00–8:00
Welcome reception and poster judging
7:15–9:15
Board of directors meeting (By invitation only)
Friday, May 9, 2025
7:30–8:30
Breakfast
8:30–9:30
Scriver Keynote Lectureship: Biomarkers for clinical trials in mitochondrial disorders
Shamima Rahman
50-minute talk and 10 minutes Q & A
Session 3: Drivers of Change in Newborn Screening: Novel therapies, new screening technologies, patient advocacy, new biomarker discovery
Moderator: Bojana Rakic
9:30–10:00
Efforts towards national coordination of newborn screening programs
Hilary Vallance
25-minute talk with 5 minutes Q & A
10:00–10:30
Biomarkers in expanded newborn screening
Biomarker and multiplex enzyme assay development for LSD newborn screening
Michael Gelb
25-minute talk with 5 minutes Q & A
10:30-11:00
Morning break | Visit posterboards
Session 4: Biomarker Development (cont’d)
Moderator: Gabriella Horvath
11:00–11:45
New biomarkers in leukodystrophies
Biomarker development for clinical trials in metabolic leukodystrophies
Fanny Mochel (virtual)
30-minute talk and 10 minutes Q & A
11:45–12:00 – Abstract submission
Impact of regular physiotherapy intervention on the function and quality of life of pediatric patients diagnosed with Mucopolysaccharidosis
Jian Dealy
15-minute talk
12:00–12:15 – Abstract submission
Utilization of a 13C-Glucose Breath Test to examine glucose metabolism in patients with metabolic myopathies after physiotherapy intervention
Catherine Brunel-Guitton
15-minute talk
12:15–12:30 – Abstract submission
Transforming inherited metabolic disease care: key lessons from Ontario
Syed A. Ahmed
15-minute talk
12:30–1:30
Lunch | Visit posterboards
Session 5: Artificial Intelligence in Precision Treatment in IMD
Moderator: Gabriella Horvath
1:30–2:10
AI in development of clinical severity scores as biomarkers for precision treatment
Xavier Vasquez (IBM Paris) (virtual)
30-minute talk and 10 minutes Q & A
2:10–2:50
AI in precision diagnosis
AI in clinical diagnostics of IMD
Wyeth Wasserman
30-minute talk and 10 minutes Q & A
2:50–3:20
Afternoon break | Visit posterboards
Session 6: Novel Clinical Trial Designs, Advances and Failures (new ways of thinking)
Moderator: Ramona Salvarinova
3:20–4:00
Clinical trial designs for rare diseases
Beth Potter
30-minute talk and 10 minutes Q & A
4:00–4:40
National/international registries, big databases
Using registry data and natural history studies, databases to have control group in clinical trials
Saadet Andrews
30-minute talk and 10 minutes Q & A
4:40–5:20
Partnership between health care providers, researchers and patient advocacy groups (CRDN Pillar 3)
Ian Stedman
30-minute talk and 10 minutes questions
5:30–6:45
The Nitobe Gardens, UBC Campus
Opened privately for Garrod Symposium Participants’ walking pleasure
7:00–11:00
Awards Dinner
​Sage Restaurant
The University Centre, UBC
6331 Crescent Rd,
Vancouver, BC V6T 1Z1
Saturday, May 10, 2025
7:30–8:30
Breakfast
Session 7: Financial, Ethical, Legal, Social Issues
Moderator: Hilary Vallance, Sandra Sirrs
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9:00–9:45
Health technology assessments, pricing negotiations, and provincial listing decisions for rare disease drugs in Canada: Challenges and opportunities
(drug pricing negotiations, government policies, negotiations)
Trish Caetano
35-minute talk and 10 minutes questions
9:45–10:30
Planetary Health is Medicine – Bringing the ABCs of the 21st century (Air purity and Biodiversity preservation, Curbing carbon emissions) to precision medicine
Andre Mattman
35-minute talk and 10 minutes questions
10:30–10:45
Morning coffee break | Visit posterboards
10:45–12:00
Debate and discussion: Surrogate endpoints as markers for drug efficacy
Presenters: Michael West and Shirin Rizzardo
Moderator: Sandra Sirrs
12:00–12:05
Closing Remarks
Aziz Mhanni, President of Garrod Association
12:05–1:30
Garrod Association AGM with Lunch
All Members Welcome