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Ottawa City, Garrod

Garrod Symposium Agendas

Thursday, May 2, 2024

11:00–1:00

Registration Open

12:00

Lunch

 

12:20–12:25

Welcome to Symposium

Chair: Kristin Kernohan; Co-Chairs: Danielle Bourque and Nathalie Lepage

 

12:30–1:15

Lightening Talks

 

1:15–1:30

Break

Session 1: Emerging Treatments

Moderator: Aziz Mhanni 

1:30–2:10 

Lessons Learned from Clinical Trials in a Non-Academic Setting

Aneal Khan

30-minute talk and 10 minutes Q and A

 

2:10–2:50

From Laboratory Findings Through to Clinical Trials

Hanns Lochmüller

30-minute talk and 10 minutes Q and A

 

2:50–3:30

Experiences at Center for Rare Disease Therapy 

Jerry Vockley

30-minute talk and 10 minutes Q and A

 

3:30–4:00

Afternoon Break and Visit Posterboards

 

Session 2: Recent Developments in Newborn Screening 

Moderator: Melanie Lacaria

 

4:00–4:40

Newborn Screening for X-adrenoleukodystrophy in New York State - 9 Years of Experience 

Joseph Orsini

30-minute talk and 10 minutes Q and A

 

4:40–5:20

GAMT screening in British Columbia

Graham Sinclair

30-minute talk and 10 minutes Q and A

 

5:20–6:00

Laboratory Experience with Newborn Screening for Four Lysosomal Diseases in Oregon 

Patrice Held and Sarah Viall

30-minute talk and 10 minutes Q and A

 

6:00–8:00

Welcome Reception and Poster Judging 

 

7:15–9:15

Board of Directors Meeting (By invitation only)

Friday, May 3, 2024

7:30–8:30

Breakfast

 

8:30–9:30

Scriver Keynote Lectureship: David Bick, NHS Newborn Genomes Program 

50-minute talk and 10 minutes Q and A

 

 

Session 3: New Technologies for diagnostics

Moderator: Pranesh Chakraborty

 

9:30–10:00 (virtual)

Metabolomics in IEMs

Clara van Karnebeek

25-minute talk with 5 minutes Q and A

 

10:00–10:30

Care4Rare Experience with Multi-omics

Kristin Kernohan

25-minute talk with 5 minutes Q and A

 

10:30–11:00

Morning Break and Visit Posterboards

 

 

Session 4: Oral Abstract Presentations

Moderator: Andrea Yu

 

11:00–12:30

Six oral presentations selected from abstract submissions

 

12:30–1:30

Lunch and Visit Posterboards

 

 

Session 5: Care of Adults with Metabolic Disease

Moderator: Gabriella Horvath

 

1:30–2:10

Evolution of the Adult Metabolics Clinic 

Sandra Sirrs

30-minute talk and 10 minutes Q and A

 

2:10–2:50

Reducing Cardiovascular Risks in Aging Adults with IMD

Anna Lehman

30-minute talk and 10 minutes Q and A

 

2:50–3:30

Reproductive Planning in Patients with IMD

Hanna Faghfoury

30-minute talk and 10 minutes Q and A

 

3:30–4:00

Afternoon Break and Visit Posterboards

 

 

Session 6: Allied Health Professionals in the Treatment of Metabolic Diseases

Moderator: Graham Sinclair

4:00–4:40

Emerging Adults: Supporting Transition to Dietary Independence

Heather Bell 

30-minute talk and 10 minutes Q and A

 

4:40–5:20

Achieving Positive Patient Experience through Health Equity

Karen Sappleton

30-minute talk and 10 minutes Q and A

 

5:20–6:00

Mental Health Care for IMD patients 

Laurie Clark

30-minute talk and 10 minutes Q and A

 

7:00–11:00

Gala Awards Reception & Dinner 

View the Menu

Saturday, May 4, 2024

8:00–9:00

Breakfast

 

Session 7: Disruptive Practices in the Laboratory and Clinic

9:009:45

Approaches to Emergency Plans and ER Letters 

Introduction and moderator: Danielle Bourque, followed by a group discussion

 

9:4510:00

Morning Break and Visit Posterboards 

 

10:00–11:00

Newborn Screening for Conditions Presenting in Early Childhood

Andreas Schulze, Michal Inbar-Feigenberg 

Moderator: Nathalie Lepage 

 

11:00–11:30 

Break and Visit Posterboards

 

11:30–12:30

Interesting IMD Cases from Across the Country 
Moderator: Lauren MacNeil
Sarah Dyack, Shailly Jain, Aziz Mhanni

 

12:3012:35

Closing Remarks

Paula Waters, President of Garrod Association

 

12:35–2:00

Garrod Association AGM with Lunch 

All Members Welcome

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