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Rare Metabolic Disorders: Don’t Miss a Treatable Disease

Sunday, May 05, 2024

CME Satellite Symposium at the Pediatric Academic Societies Annual Meeting, Metro Toronto Convention Center

255 Front Street West

Toronto, Ontario

Schedule

* Times are EST
06:45 PM Buffet Dinner
07:00 PM Welcome, Introductions, Sponsor Acknowledgements, Disclosures
07:05 PM Newborn Screening for Rare Disorders – What Pediatricians Need to Know

Andreas Schulze, MD, PhD FRCPC

Professor, Departments of Paediatrics and Biochemistry
University of Toronto
Senior Associate Scientist, Research Institute
Medical Director, Newborn Screening
The Hospital for Sick Children
Toronto, CA

07:25 PM Cystinosis: Clinical Forms, Signs, Symptoms, and Diagnostic Screening Methods

Paul C. Grimm, MD

Professor of Pediatrics
Medical Director, Pediatric Kidney Transplant Program
Stanford University School of Medicine and Stanford Children’s Health
Center for Academic Medicine
Pediatric Nephrology
Palo Alto CA

07:50 PM Inborn Errors of Metabolism: Clinical Symptoms not identified by NBS

Debra Regier, MD, PhD

Chief, Division of Genetics & Metabolism
Interim Director, Rare Disease Institute
Children’s National Hospital
Washington, DC

08:15 PM Audience Q&A
08:30 PM Adjourn

Presenters

Paul C. Grimm, MD

Medical Director, Pediatric Nephrology
Stanford University School of Medicine
Lucile Packard Children’s Hospital
Palo Alto, CA

Debra S. Regier, MD, PhD

Chief, Division of Genetics & Metabolism
Interim Director, Rare Disease Institute
Children’s National Hospital
Washington, DC

Andreas Schulz, MD, PhD, FRCPC

Professor, Departments of Pediatrics and Biochemistry
University of Toronto
Senior Associate Scientist, Research Institute
Medical Director, Newborn Screening
The Hospital for Sick Children
Toronto, ON, Canada

Accreditation

EXCEL Continuing Education is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.

EXCEL Continuing Education designates this live activity for a maximum of 1.5 AMA PRA Category 1 Credits. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Canadian CME: Through an agreement between the ACCME and the Royal College of Physicians and Surgeons of Canada, medical practitioners participating in the Royal College MOC Program may record completion of accredited activities registered under the ACCME’s “CME in Support of MOC” program in Section 3 of the Royal College’s MOC Program.

The UEMS-EACCME®: European Union of Medical Specialists and European Accreditation Council for CME have mutual recognition agreements with the American Medical Association for live events and e-learning materials. European physicians can earn their ECMEC®s (European CME credits) by either attending a live presentation approved by an ACCME accredited provider such as EXCEL or participating in e-learning activities (on-demand webcasts) from accredited providers from the USA that have been certified for AMA PRA Category 1 Credits™.

Nursing CEUs: This activity is designated for 1.5 contact hours. Note:  Nurse practitioners can apply for AMA PRA Cat. 1 Credit™ through the American Academy of Nurse Practitioners (AANP).  AANP will accept AMA PRA Cat. 1 Credit™ from ACCME accredited organizations.  Nurse practitioners can also apply for credit through their state boards.

Educational Objectives

At the conclusion of this conference, you should be able to:

- Discuss the importance and help recognize the gaps of newborn screening (NBS)

-Review the pathogenesis and clinical forms of cystinosis

-Improve recognition and diagnosis of cystinosis through discussion of nephropathic, intermediate, and ocular cystinosis

- Assess the broad spectrum of clinical symptoms associated with inborn errors of metabolism not identified by NBS

-Evaluate symptomatic and therapeutic treatments for managing these disorders considering their impact to optimize patient outcomes 

Supporter

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