Thursday, May 4, 2023

​

10:00–12:00 
INFORM RARE Metabolics Meeting (Invitation Only) (Room 311/Hybrid)

​

12:00–1:00

Registration Open (Hall 310)

 

All Sessions are located in Room 309 AB

 

12:45–1:00

Welcome to Symposium

Co-Chairs: Marie-Thérèse Berthier, PhD, and Yves Giguère, MD, PhD CHU de Québec-Uiversité Laval

 

Session 1: Opening talk

Moderator: Yves Giguère, CHU de Québec-Université Laval, Québec

 

1:00–1:45

Krabbe disease: A fortress with layers of moats, walls and secret passage

Keynote: Dietrich Matern, MD, PhD, Mayo Clinic, Minnesota

 

1:45–2:00

Question and Answer

 

2:00–2:48

Platform Presentation: Clinical Cases

Moderator: Dietrich Matern, MD, PhD

 

2:00–2:12

Expanding the phenotype of TUFM-related combined oxidative phosphorylation deficiency-4.

Noemie Villeneuve-Cloutier

 

2:12–2:24

When Fasting Turns Fatal: Eating disorders in patients with medium-chain acyl-CoA dehydrogenase deficiency

Mia Sethna

 

2:24–2:36

Autosomal dominant Fanconi syndrome due to a heterozygous pathogenic variant in GATM and review of the literature

Crystal Mulik

 

2:36–2:48

The value of functional studies and whole genome sequencing in explaining the phenotype in of a patient with two rare genetic diseases

David Rosenblatt

​

 

2022 Garrod Association Trainee Research Award Recipient

2:48–3:00

Management of lipoprotein lipase deficiency with medium-chain triglycerides: a retrospective chart review

Liali Aljouda

 

3:00–3:30

Break (Hall 310 & Espace Urbain)

 

Session 2: Tyrosinemia type 1: more than 50 years of experience

Moderator: Guy Parizeault, MD, PhD, Saguenay-Lac-St-Jean

 

3:30–4:00

Screening for Tyrosinemia type 1 in Québec: Historical perspective

Marie-Thérèse Berthier, PhD, and Yves Giguère, MD, PhD, CHU de Québec-Uiversité Laval

 

4:00–4:30

Tyrosinemia type I Diagnostics and therapeutics

Grant Mitchell, MD, CHU Ste-Justine, Montréal

 

4:30–4:45

Correction of hereditary tyrosinemia type I by in vivo genome editing in Fah-/- mice

Jean-Francois Rivest, Quebec City

 

4:45–5:15

Family planning: co-creation of a decision support aid to empower couples carrying the tyrosinemia gene

Marie-Ève Poitras Inf, PhD and Janick Tremblay, Saguenay-Lac-St-Jean

 

5:15–5:50

Panel Q&A

 

6:00–8:00

Welcome Reception and Poster Judging (Hall 310 & Espace Urbain)

 

7:00–9:00

Board of Directors Meeting (Room 307)

​

​

​

Friday, May 5, 2023

 

8:00–8:30

Breakfast (Room 308 AB)

 

All Sessions are located in Room 309 AB

 

Session 3: IEMs in Canada Update

Moderators: Paula Waters, CHUS–Sherbrooke, Daniela Buhas,
McGill University, Montreal

 

8:30–9:45

Strategies from Coast to Coast: A lifetime journey

Alberta, British Columbia, Manitoba

 

9:45–10:00

Morning Break (Hall 310 & Espace Urbain)

 

10:00–11:15

Strategies from Coast to Coast: A lifetime journey

Maritimes, Ontario, and Quebec

 

11:15–12:00

Discussion Panel

 

12:00–12:45

Lunch (Room 308 AB)

 

12:45–1:30

Poster Judging

 

Session 4: What’s new in IEM?

Moderator: Nathalie Lepage, CHEO, Ottawa

 

1:30–3:00

Platform Presentations

 

1:30–1:45

Parent and healthcare personnel perspectives on challenges to family-centred care for children with inherited metabolic diseases: a qualitative analysis of interview data

Andrea Chow

 

1:45–2:00

Mass spectrometry assays for better management of patients with mucopolysaccharidoses

Pamela Lavoie

 

2:00–2:15

Genetic landscape of primary mitochondrial disorders due to pathogenic variants in the mitochondrial and nuclear genome

Anastasia Ambrose

 

2:15–2:30

Evaluating the “OMICS First” approach to the diagnosis of Inborn Errors of Metabolism: Preliminary analysis of outcome measures comparing next-generation sequencing to the traditional approach to diagnosis

James Elmore

 

2:30–2:45

Validation and implementation of a multiplexed UPLC-MS/MS method for detecting six lysosomal storage disorders in dried blood spots with separation of interferences.

Joshua Dubland

 

2:45–3:00

Expression and function of guanidinoacetate methyltransferase (GAMT) is restored in cellular and murine models of GAMT creatine deficiency following treatment with scAAV9.hGAMT

Robyn Binsfeld

 

3:00–3:15

Tribute to Dr. Charles Scriver

 

3:15–3:30

Break (Hall 310 & Espace Urbain)

 

Session 5: How to beat the everyday with an IEM

Moderators & Facilitators: Mehdi Yeganeh, CHU de Quebec, Quebec and Ivan Shelihan, MUHC, Montreal

 

3:30–5:00

Presenters/testimony and discussion with patients and parents of patients on their experience in the continuum of care

 

5:00–5:30

Question & Answers

 

7:30–11:30

Gala Awards Dinner Musée national des beaux-arts du Québec

(20-minute walk 1.5 km) Directions: bit.ly/garrod-gala-awards-23

 

7:30–8:30

Cocktail hour

During the cocktail hour, you are welcome to visit two exhibits:

Decorative Arts and Inuit Art for 1 hour

 

8:40–11:30

Dinner, Awards Announcements and Music

​

​

 

Saturday, May 6, 2023

 

8:00–8:30

Breakfast (Room 308 AB)

 

All Sessions are located in Room 309 AB

 

Session 6: Allied Health Conference: Treatment of IEM

Moderator: Marie-Helene Bourdages, CHU de Quebec, Quebec

 

8:30–9:15

Glycerol phenylbutyrate in the treatment of urea cycle disorders with Testimony/exchange of a patient treated during pregnancy

Barbara Burton, MD, Lurie-Children’s Hospital, Chicago

 

9:15–9:30

Question and Answer

 

9:30–10:15

Pegvaliase in the treatment of phenylketonuria with Testimony/exchange of a patient

John Mitchell, MD, McGill University, Montreal

 

10:15–10:30

Question and Answer

​

10:30–10:45

Break Hall (310 & Espace Urbain)

 

10:45–11:10

Inborn errors of acyl-CoA metabolism

Grant Mitchell, MD, CHU Ste-Justine, Montreal

 

11:10–11:20

Question and Answer

 

11:20–11:30

Closing Remarks

Paula Waters, President of Garrod Association

 

11:30–12:55

Garrod Association AGM

All Members Welcome

 

13:00

Lunch with a view at Hilton Quebec

Plaines room located 23rd floor