Creating awareness around rare genetic syndromes among endocrinologist
Karlijn Pellikaan, Erasmus University Rotterdam
Aims
The aim of this grant is to facilitate the distribution of knowledge on rare genetic syndromes with endocrine features among endocrinologist.
Genetic syndromes with endocrine features are complex multisystem disorders requiring specific screening and treatment protocols tailored to that specific syndrome. Adults with these genetic syndrome are often undertreated as many endocrinologist are unfamiliar with these rare genetic conditions. Undertreatment leads to a decreased quality of life, more complications, which are associated with more medical costs, and could even result in death. We conducted research on the health problems that are associated with these syndromes and formulated specific guidelines for the treatment and screening of health problems in this vulnerable patient population. To communicate these guidelines with endocrinologists worldwide, we need to attend international congresses and meetings. Therefore I would like to present our research and recommendations at the meeting of the endocrine society in 2022 (ENDO 2022), held June 11-14 in Atlanta, Georgia.
Evaluation
The aim of this grant was to distribute knowledge about rare genetic syndromes with endocrine features among endocrinologists worldwide. To achieve this I went to the meeting of the Endocrine Society (ENDO 2022) in Atlanta, Georgia.
At this conference, I met endocrinologists from all around the world and discussed rare genetic syndromes, our network of experts in the field of these rare syndromes in adults and our proposed guidelines to optimize the treatment for adults with these syndromes.
Additionally, I presented our research on adults with Prader-Willi syndrome (PWS) during an oral presentation, a poster presentation, and a rapid-fire presentation. During these presentations, I described our findings and our practical clinical recommendations for the treatment of adults with PWS. I highlighted the pitfalls in the screening, diagnosis, and treatment of health problems in adults with PWS. The presentation also included our contact information to make sure that everyone who wants to collaborate on research projects in the future or anyone who has clinical questions, can reach us.
Lastly, I connected with as much endocrinologists as possible to expand our network of endocrinologists who specialize in rare genetic syndromes. However, I learned that adults with rare genetic syndromes are not treated by endocrinologists in many other countries, including the Unites States of America. Most of these patients are still treated by a paediatric endocrinologist. Fortunately, some paediatric endocrinologists that treat patients with these rare genetic syndromes were present at the conference as well and I was able to connect with them. Additionally, one of the paediatric endocrinologist I met is part of a network of American paediatric endocrinologists who specialize in children and adults with these rare genetic syndromes. We have exchanged contact information to discuss future collaborations on research projects between our two networks and to share our clinical experience.
Grant Awarded: €1,992.00