How to address rare diseases: NCG inspires interdisciplinary exchange at the highest level

The LNS National Center of Genetics (NCG) has become a pillar in the fight against rare diseases, and this since 2018. Specialist events such as the Rencontres Maladies Rares Luxembourg conference, which took place at LNS in autumn 2022, play a central role in this context.

Plan National Maladies Rares as a strategic framework

The reason for the importance attached to rare diseases in the Luxembourg health system lies in their overall prevalence, as Prof. Dr Barbara Klink, head of NCG, explains. It is assumed that there are about 30,000 patients in Luxembourg, and this is where geneticists are needed: “A large number of diseases are caused by genome defects, including many rare diseases, of which more than 7,000 are known – and some are even very rare. To provide access to quality diagnosis to a maximum of patients, the department of genetics collaborates on the one hand with accredited foreign laboratories. On the other hand, we rely on the versatile expertise we find in Luxembourg itself.”

The framework for the latter is anchored in the Plan National Maladies Rares (PNMR) – which also organised the conference in autumn 2022. The PNMR was established in 2013 based on recommendations from the Luxembourg Government Programme as well as from the Council of the European Union and came into force in 2018. The aim of the plan is to ensure optimal medical and psychosocial care for patients and their relatives. Targeted research projects and awareness-raising measures also play a central role. Another main strategic focus is to enable all those affected to achieve the highest possible level of educational, professional and personal development.

Comprehensive approach across all borders

Rare diseases are thus addressed in a particularly comprehensive manner in Luxembourg, and the speeches given at the Rencontres Maladies Rares were correspondingly diverse. From the NCG side, the interdisciplinary approach was underlined; clinical geneticists Dr Guillaume Jouret and Dr Arthur Sorlin gave insights into the interplay between diagnostic genetics and translational research. In a workshop session, they then presented examples of the interpretation of genetic results in their clinical context.

“Permanent exchange between experts from different fields is important, especially in the context of rare diseases: To improve their diagnosis and care, it is necessary to bring together cutting-edge skills in all areas, provided by scientific and medical teams scattered around the world”, says Arthur Sorlin. In order to achieve results for patients as quickly as possible, it is of central importance to work across all borders, adds Barbara Klink, according to whom the conference in autumn 2022 was a prime example of this: “Both speakers and the audience were comprised of specialists from Luxembourg and abroad, which led to a vital exchange and many new contacts. In addition, LNS was also represented by Dr Patricia Borde, who shed light on the topic from the perspective of medical biology.”