15 July 2022
on course website
Rare Diseases in Translational and Personalized Medicine
birth to adulthood. Most rare diseases are genetic diseases, and while they are individually rare, their collective impact on populations and healthcare systems is huge and often underestimated. Due to their low prevalence, medical expertise and research in rare disease are limited, and it is scattered across clinics and laboratories worldwide. This scarcity of expertise and practice translates into delayed diagnosis, few medical drugs and investments, obstacles to medical care and sometime social stigmatization.
Over the last decades, the advent of new scientific knowledge and technologies has accelerated the discovery of pathogenic variants that underlie rare diseases, has allowed establishment of newborn screening programs for some groups of diseases, and has paved the way for improved individualized disease-/gene-targeted therapies. Moreover, researchers are increasingly working through networks in order to share results of their research, and European and national collaborative efforts have developed policies and consortia to ensure awareness and data sharing that will facilitate the translation of research and data from internationally dispersed laboratories into rare disease diagnosis and treatment.
Integration of multinational and multidisciplinary expertise is key to improve our understanding and management of rare diseases and their pathogenesis. Thus, the course will include lectures from national and international experts and instructors from various research fields and disciplines, and it is directed at students from various educational backgrounds. During the course, we will cover recent research and innovative approaches to studying and diagnosing rare diseases and developing new treatment options. Moreover, we will discuss how rare genetic diseases can serve as models to understand the complex gene-environmental interactions in more common conditions. In particular in the context of personalized medicine.
Rikke Katrine Jentoft Olsen
EUR 380: EU/EEA citizens
EUR 1313: NON-EU/EEA citizens
No scholarships availableRegister for this course
on course website