Rare Diseases
Reducing the Time to Diagnosis: Chromosome Abnormalities
This program is an unaccredited three-part expert brief miniseries for Canadian primary care providers and other healthcare professionals. The goal of this series is to provide a brief introduction to chromosome abnormalities, with a focus on early diagnosis, personalized management and emerging treatment strategies. The expert brief videos will feature conversations between Dr. Jannine Cody, Director of Chromosome 18 Clinical Research Centre, and Dr. Daniel E. Hale, Pediatric Endocrinologist and Medical Director of Chromosome 18 Clinical Research Centre.
DURATION
1 hr
PROFESSION
Physician
# OF CREDITS
0
ACCREDITATION
Unaccredited
EXPIRY DATE
2024-12-18
A chromosome abnormality is characterized by a morphological or numerical alteration in single or multiple chromosomes. Identification of key genes involved with chromosome abnormalities has provided a better understanding of etiologies and treatment insights. However, due to the heterogeneity of chromosome abnormalities, personalized treatment is required to truly impact quality of life. Early diagnosis of chromosome abnormalities is an essential first step to optimize management.
This program has been developed in collaboration with The Chromosome 18 Registry & Research Society.
Faculty
- Jannine Cody, PhD
- Daniel Hale, MD
Learning objectives
After viewing this three-part expert brief miniseries, participants will be better able to:
- Identify when to consider genetic testing for suspected chromosome abnormalities
- Recognize the need for a personalized plan of care for people with chromosome abnormalities
- Describe future directions for the care of people with chromosome abnormalities