You must be registered for the ACMG annual meeting to participate in this symposium.
Schedule |
|
| 04:00 PM | Registration |
| 04:15 PM | Welcome, Disclosures, Supporter Acknowledgement |
| 04:20 PM |
The Genetics of Hypochondroplasia
FGFR3 Pathway, Common Variants, Pathophysiology, Genetic Testing |
| 04:35 PM | Clinical Manifestations and Diagnostic Evaluation |
| 04:45 PM | Case Studies including Symptom Patterns, Differential Diagnosis, and Workup |
| 05:00 PM | Current Therapies in Clinical Trials |
| 05:10 PM | Final Comments and Audience Q&A |
| 05:30 PM | Adjourn |
Mahim Jain, MD, PhD
Statistical Geneticist
Director of the Division of Orthogenetics
Nemours Children’s Hospital
Wilmington, DE
Andrew Dauber, MD, MMSc
Chief of Endocrinology
Children’s National Hospital
Washington, DC
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.
The American Medical Association (AMA) has an agreement of mutual recognition of CME credit with the European Union of Medical Specialists. Under the terms of this agreement the European Accreditation Council for Continuing Medical Education (EACCME), the accrediting arm of the UEMS, will convert CME credit for live activities certified by the AMA. Likewise, a similar agreement exists between the ACCME and the Royal College of Physicians and Surgeons of Canada. Medical practitioners 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.
Physician Assistants and Nurse Practitioners: AAPA and AANP accept AMA Category 1 Credit™ from organizations accredited by the ACCME.
Genetic Counselors: The ACMG will provide CE credits for Genetic Counselors.
At the conclusion of these activities, learners should be better able to:
- Describe the genetics and pathophysiology of hypochondroplasia, including common FGFR3 variants and their impact on bone development
- Recognize clinical features and radiologic findings characteristic of hypochondroplasia, and differentiate them from other skeletal dysplasias
- Using real-world case studies, incorporate differential diagnosis and diagnostic workup strategies
- Evaluate emerging therapeutic approaches for hypochondroplasia and current clinical trials