Conference

Garrod Symposium
Saturday, May 14, 2022

7:00–8:00 AM             

Breakfast

(Main Foyer)

Plenary Session IV – New Approaches for Diagnosis & Treatment Monitoring Analysis 

Session Chair: Aneal Khan

(Wildrose Room Centre & South)    

                   

8:00–8:45

Normal newborn screen? Clinical untargeted metabolomics as a functional screen to improve genomic analysis

Sarah Elsea, PhD, FACMG

Professor, Dept. of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX      

By attending this session, participants will be able to:

  • Determine how to integrate untargeted metabolomics with genomics to improve interpretation of variants of uncertain significance.

  • Describe the limitations of clinical untargeted metabolomic screening.

  • Consider the use of untargeted metabolomics for monitoring treatment of inborn errors of metabolism.

                                  

8:45–9:15 

Development of a biobank and untargeted metabolomics pipeline aimed at improving diagnosis, informing treatment and probing pathophysiology of IMDs 

Alicia DiBattista, PhD

Postdoctoral Fellow, Newborn Screening Ontario

The Children’s Hospital of Eastern Ontario, Ottawa, ON

By attending this session, participants will be able to:

  • Review the rationale for the metabolics biobank and metabolomics pipeline.

  • Discuss the structure of the biobank and pipeline.

  • Recognize the potential of the biobank and pipeline to improve diagnosis, inform treatment and probe pathophysiology of IMD.

 

9:15–9:45

Flux Analysis in DCMA fibroblasts 

Steven Greenway, MSc, MD, FRCPC

Associate Professor

Department of Biochemistry & Molecular Biology

University of Calgary, Calgary, AB

By attending this session, participants will be able to:

  • Define DCMA, a rare mitochondrial cardiomyopathy.

  • Explain how metabolomics and flux analysis provided new disease insights.

  • Outline the potential clinical impact of identified cellular abnormalities.

                                                      

9:45–10:15            

Refreshment Break and Exhibits 

(Main Foyer)

 

Plenary Session V – Precision Medicine: NBS 

Session Chair: Ross Ridsdale

(Wildrose Room Centre & South)      

                                         

10:15–10:45                  

Newborn Screening for MPS-1 Hurler 

Matthew P.A. Henderson, PhD, FCACB, FCCMG

Laboratory Head of Biochemistry

Newborn Screening Ontario, The Children's Hospital of Eastern Ontario

Assistant Professor, University of Ottawa

By attending this session participants will be able to:

  • Communicate the rationale for inclusion of MPS1-Hurler in Ontario’s newborn screening panel.

  • Describe the biochemical and molecular testing strategies used in newborn screening for MPS1-Hurler.

  • Identify the potential affected of pseudo-deficiency variants on the positive predictive value for MPS1-Hurler screening.

  • Summerize the importance of a high positive predictive value when screening for MPS1-Hurler.

                                               

10:45–11:15                 

NBS for SMA 

Kirstin Kernohan, PhD, FCCMG

Laboratory Head Molecular Genetics, Associate Professor, University of Ottawa

By attending this session, participants will be able to:                                       

  • Describe the molecular genetics of SMA.

  • Identify the assay used for SMA newborn screening.

  • Discuss the experience of SMA newborn screening in Ontario to date.

 

11:15–12:00

Closing Talk

 

Session Chair: David Sinasac

Translational Research in Inborn Errors of Metabolism: From Bench to Bedside 

Lindsay Burrage, MD, PhD

Assistant Professor, Department of Molecular and Human Genetics, Baylor College of Medicine

By attending this session participants will be able to:

  • Recognize the potential utility of novel biomarkers for inborn errors of metabolism.

 

12:00–12:30            

Meeting Update and Closing Remarks

12:30–1:30            

Lunch (provided)

1:00–3:00               

Garrod Association Membership Meeting

All members welcome

(Wildrose Room Centre & South)