Highlights from PAS: Rare Disorders - Don't Miss a Treatable Disease
Released On
June 3, 2024
Expires On
June 3, 2025
Media Type
Internet
Completion Time
73 minutes
Specialty
Neonatology, Pediatrics, Genetics, Family Practice, Primary Care, Education
Topic(s)
Pediatrics, Rare Diseases
This activity is provided by EXCEL Continuing Education
This activity is supported by an educational grant from RECORDATI RARE DISEASES.
Credit Available
- Physicians — maximum of 1.25 AMA PRA Category 1 Credit™
- Nurses — 1.25 Nursing Contact Hour from the Florida Board of Nursing
- Nurse Practitioners — The Academy of Nurse Practitioners accepts certificates of participation certified for AMA PRA Category 1 Credit™ from ACCME accredited organizations.
- Genetic Counselors — CEUs: can claim Category 2 credit directly from the NSGC for this activity
- Physician Assistants — The Academy of Physician Assistants accepts certificates of participation certified for AMA PRA Category 1 Credit™ from ACCME accredited organizations.
All other healthcare professionals completing this course will be issued a statement of participation.
Target Audience
This activity is designed to meet the educational needs of neonatologists, pediatricians, geneticists, family practice, registered nurses, nurse practitioners, physician assistants, genetic counselors, and other HCPs who wish to improve their knowledge and competence in identifying and managing patients with treatable rare disorders through NBS as well as other measures.
Program Overview
This activity will feature clinical cases where newborn screening (NBS) identified a treatable rare disorder as well as other cases when the disorder was not recognized. Discussion will include strategies that can be implemented to better assess the broad spectrum of clinical symptoms of several rare disorders to help rule out potential disorders, and correctly identify the disorder, allowing for treatment initiation.
Learning Objectives
Upon completion of this activity, participants should be better able to:
- Discuss the importance and help recognize the gaps of NBS
- Review the pathogenesis and clinical forms of cystinosis and other rare disorders
- 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 newborn screening
- Evaluate symptomatic and therapeutic treatments for managing these disorders considering their impact to optimize patient outcomes
Faculty
Andreas Schulze, 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
Paul C. Grimm, MD
Professor of Pediatrics
Medical Director, Pediatric Kidney Transplant Program
Stanford University School of Medicine
Stanford Children's Health Pediatric Nephrology
Center for Academic Medicine
Palo Alto, CA
Debra S. Regier, MD, PhD
Chief, Division of Genetics & Metabolism
Interim Director, Rare Disease Institute
Children’s National Hospital
Washington, DC
Accreditation Statement
EXCEL Continuing Education is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.
Additional Accreditations
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 recognizes the American Medical Association credits.
Genetic Counselors CEUs: Can claim Category 2 credit directly from the NSGC for this activity.
Registered Nurses: EXCEL designates this enduring activity for 1.25 CEUs. Florida Board of Nursing provider # 50-619.
Credit Designation
Physician Credit Designation Statement
EXCEL Continuing Education designates this enduring activity for a maximum of 1.25 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Disclosures of Conflicts of Interest
- Andreas Schulze, MD PhD FRCPC
- PI, Ad Board Member: Ultragenyx, iEcure, and Moderna
- Ad Board Member: : Ceres Brain Therapeutics
- Paul C. Grimm, MD
- Consultant: Horizon, Avrobio, and Novartis
- Consultant and Speaker : Recordati Rare Diseases
- Debra S. Regier, MD, PhD
- Educational Grant Receipient: Takeda Pharmaceuticals and Travera Therapeutics
EXCEL staff and peer reviewers have nothing to disclose.
All relevant financial information has been mitigated.
Instructions for Participation and Credit
There are no fees for participating and receiving CME credit for this enduring activity. To receive CME credit participants must:
- Read the CME/CE information and faculty disclosures
- Participate in the online activity
- Submit the evaluation form
Certificates will be emailed to the participant.
Course Viewing Requirements
Hardware/Software Requirements
This certified CME activity is designed using HTML5 web components. As you navigate the video using the supplied controls, the slides will sync to the speaker.
Supported Browsers (Desktop/Mobile)
Internet Explorer 8.0+ for Windows 2003, Vista, XP, Windows 7, Windows 8.1 and above
Google Chrome 28.0+ for Windows, Mac OS, or Linux
Mozilla Firefox 23.0+ for Windows, Mac OS, or Linux
Safari 6.0+ for Mac OSX 10.7 and above
Supported Phones & Tablets
Android 4.0.3 and above
iPhone/iPad with iOS 6.1 or above
Disclosure of Unlabeled Use
EXCEL requires that faculty participating in any CME activity disclose to the audience when discussing any unlabeled or investigational use of any commercial product or device not yet approved for use in the United States.
Disclaimer
This activity is designed for educational purposes. Participants have a responsibility to utilize this information to enhance their professional development to improve patient outcomes. Conclusions drawn by the participants should be derived from careful consideration of all available scientific information. The participant should use his/her clinical judgment, knowledge, experience, and diagnostic decision-making before applying any information, whether provided here or by others, for any professional use.
Contact Information
For CME questions, please contact: [email protected] or 305-630-9414.