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12th Annual Rare Disease Symposium

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Add to Calendar 12th Annual Rare Disease Symposium 2/28/2025 8:15:00 AM 2/28/2025 4:45:00 PM America/Chicago For More Details: https://childrensal.cloud-cme.com/course/courseoverview?EID=8498 Description: According to the National Institutes of Health, any disease that affects fewer than 200,000 people in the United States is considered "rare." There are over 10,000 known rare diseases, and 25-30 million Americans are estimated to live with a rare disease. People living with rare diseases frequently face challenges finding diagnoses and quality clinical care. The Annual Rare Disease Symposium hoste... CoA Bradley Lecture Center false MM/DD/YYYY


Date & Location
Friday, February 28, 2025, 8:15 AM - 4:45 PM, CoA Bradley Lecture Center, Birmingham, AL

Target Audience
Specialties - Adolescent Medicine, Allergy/Immunology, Anesthesia, Cardiology, Cardiovascular Surgery, Community Pediatrics, Critical Care, Dentistry/OMF, Dermatology, Developmental & Behavioral Pediatrics, Emergency Medicine, Endocrinology, Gastroenterology, General Pediatrics, General Surgery, Genetics, Hematology/Oncology, Hospital Medicine, Infectious Diseases, Neonatology, Nephrology, Neurology, Neurosurgery, Nutrition, Ophthalmology, Orthopaedics, Otolaryngology, Pathology, Plastic Surgery, Primary Care Physicians, Pulmonology & Sleep Medicine, Radiology, Rehabilitation Medicine, Rheumatology, RN, CRNP, Sports Medicine, Urology

Overview
According to the National Institutes of Health, any disease that affects fewer than 200,000 people in the United States is considered "rare." There are over 10,000 known rare diseases, and 25-30 million Americans are estimated to live with a rare disease. People living with rare diseases frequently face challenges finding diagnoses and quality clinical care. The Annual Rare Disease Symposium hosted by UAB and Children's of Alabama provides current medical education content for providers, researchers, and rare disease families with a goal of improving diagnostics and patient care.

Objectives
  1. Discuss the STEP program as well as challenges, and opportunities for healthcare transition in Alabama for adults with complex diseases of childhood.
  2. Identify FDA-approved treatments, emerging therapies and discuss opportunities and challenges in clinical trial design and therapeutic biomarker development for Duchenne muscular dystrophy.
  3. Participants will identify effective strategies for coordinating care among healthcare providers, families, and interpreters to ensure comprehensive support for deaf during inpatient complex care.
  4. Participants will cultivate an awareness of the common barriers faced by deaf in inpatient settings and discover proactive methods to address these challenges to enhance communication and enrich overall patient experience.
  5. To gain knowledge in the landscape of the current clinical genetics workforce and how that impacts access to testing, counseling and services
  6. Define Children with Medical Complexity (CMC) and identify the importance of team-based care management and coordination in caring for CMC.
  7. Appreciate the unique history and growth of the medical genetics and genomics specialty and its role within clinical medicine
  8. Define and gain knowledge of the process to access multiple programs and specialized services with Alabama Department of Rehabilitation Services and Vocational Rehabilitation Services.

Accreditation

Children's of Alabama designates this Live Activity for a maximum of 6.25 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Children’s of Alabama is accredited by the Medical Association of the State of Alabama to provide continuing medical education for physicians.


Credits
AMA PRA Category 1 Credits™ (6.25 hours), General Attendance (6.25 hours), Non-Physician Attendance (6.25 hours)

Mitigation of Relevant Financial Relationships


Children's of Alabama adheres to the ACCME’s Standards for Integrity and Independence in Accredited Continuing Education. Any individuals in a position to control the content of a CE activity, including faculty, planners, reviewers or others are required to disclose all relevant financial relationships with ineligible entities (commercial interests). All relevant conflicts of interest have been mitigated prior to the commencement of the activity.

Miriam Blitzer, PhD
Chief Executive Officer
American Board of Medical Genetics and Genomics
Rockville, MD
Sarita Edwards, MSHA
CEO & President
The E.WE Foundation
Madison, AL
Betsy Hopson, PhD
Spina Bifida Program Coordinator
Children's of Alabama
Lincoln, AL
Brian Kirmse, MD
Genome Medical Services
Jackson, MS
Michael A Lopez, MD
Assistant Professor
University of Alabama at Birmingham
Birmingham, AL
Kent Schafer, PhD
Regional Director
Alabama Institute Deaf Blind
Tuscaloosa, AL
CARLIE S SOMERVILLE, MD
UAB
Null, Null
James A Watson Jr., MD
Assistant Professor
University of Alabama at Birmingham
Birmingham, AL

Friday, February 28, 2025

Navigating the Storm: Care for Deaf
8:30AM - 9:05AM
Kent Schafer, PhD
Supporting Children with Medical Complexity and their Families: The Importance of a Multidisciplinary Team Approach
9:05AM - 9:40AM
James A Watson Jr., MD
Emerging Therapies and Biomarkers in Duchenne Muscular Dystrophy: Clinical Progress, Challenges, and Next Steps
9:45AM - 10:20AM
Michael A Lopez, MD
Panel: Directed Questions/Discussion
10:30AM - 11:00AM
Sarita Edwards, MSHA
Expanding Access to Clinical Genetics Services in the TechEnabled Post-Genomic World
12:00PM - 1:00PM
Brian Kirmse, MD
The First 40 Years of Medical Genetics – Expanded Demands and Workforce Challenges!
1:00PM - 2:15PM
Miriam Blitzer, PhD
Transitioning and bridging adult care (medical) Opportunities, successes, challenges, barriers, biggest needs for this population from their viewpoint, and what needs to be thought of the rare complex disease population
2:45PM - 3:20PM
CARLIE S SOMERVILLE, MD
Alabama Department of Rehabilitation Services One Department, One Mission, One Family
3:20PM - 3:55PM
Transitioning and bridging adult care (community/social)
3:55PM - 4:30PM
Betsy Hopson, PhD

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