Garrod Symposium Agendas
Thursday, May 8, 2025
11:00–1:00
Registration Open
12:00
Lunch
12:20–12:25
Welcome to 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
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
Mari Demarco
30-minute talk and 10 minutes Q & A
4:40–5:25
3 oral presentations selected from abstract submissions
5:25–6:00
Functional assay as biomarker for drug repurposing in creatine transporter defects
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
11:45–12:30
3 oral presentations selected from abstract submissions
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
Novel clinical trial designs
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
7:00–11:00
Awards Dinner
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
Government policies for the future in rare disorders
Directions for rare diseases clinical trials
(drug pricing negotiations, government policies, negotiations)
Trish Caetano
35-minute talk and 10 minutes questions
9:45–10:30
Environmental sustainability in aspects of newborn screening and clinical trial design
Andre Mattman
35-minute talk and 10 minutes questions
10:30–10:45
Morning Coffee Break - Visit Posterboards
10:45–12:00
Debate & Discussion: Surrogate endpoints as markers for drug efficacy
Presenters: Michael West & 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