P-20 Management and examples of rare diseases: the genetic particularities of the Caribbean population
Author(s):
R Bellance, I Antolin, AG Giguet-Valard
Year of Presentation:
2023
Objective: To inform the Caribbean population about rare diseases, taking into account the genetic peculiarities of the Caribbean population, and to draw attention to the difficulty of obtaining a diagnosis for these diseases.
Methods: A list of examples of rare diseases in the Caribbean with genetic peculiarities seen from 2003 to 2022 at the Caribbean Center of Reference for Neuromuscular and Neurogenetics, as well as implications and recommendations
Results: Around 1,75 million people in the Caribbean are estimated to be affected by a rare disease, however, they receive insufficient attention. There is a high prevalence of Huntington’s Disease Like 2 and Steinert’s disease. A rare form of Amyotrophic Lateral Sclerosis has been found in Martinique. SCA 2 is surprisingly more prevalent than SCA 3. These examples emphasize the significance of investigating the genetic peculiarities of the Caribbean population as they challenge the assumed prevalence and symptomatology of certain diseases. To improve patients’ care and inform families about the importance of prevention, diagnostic testing is necessary. Only a few laboratories can perform the required testing for rare genetic diseases.
Conclusion: It has proven crucial to work together to tackle rare diseases within the unique genetic backgrounds of our population, as evidenced by successful examples of collaboration between Caribbean regions. Interested countries are invited to collaborate with Martinique.