On 19 November, the Luxembourg National Research Fund (FNR) presented the FNR Awards 2020 to reward outstanding achievements in science and science communication in Luxembourg. The LCSB won two awards: one for Outstanding Scientific Publication and one for Outstanding Promotion of Science to the Public.
Discovery of a novel neurodegenerative disease
The award for Outstanding Scientific Publication went to Carole Linster and her team members Nicole Paczia, Julia Becker-Kettern, Jean-François Conrotte and Daniel Kay for an article published in the scientific journal Brain and entitled: NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.
Carole Linster and her team, in collaboration with partners from Australia, America, England, India and Spain, have identified the genetic cause of a severe childhood disease. “International clinicians reached out to us as we had previously identified and characterised the NAXD enzyme which seemed involved in a so far undescribed disease in children,” explains Prof. Carole Linster. Typically, the patients suffer from severe skin lesions and episodes of neurological regression triggered by mild fever or infection, eventually leading to early childhood death. The publication shows that mutations in the NAXD gene are indeed the cause of this disease. The NAXD gene encodes an enzyme that is responsible for the degradation of toxic waste products of cellular metabolism. In children carrying the disease, this sanitary mechanism no longer works. It can now be classified as a disorder of metabolite repair, a process that is studied as a main focus in the Enzymology and Metabolism group at the LCSB.
Researchers could also show that the degradation of the metabolic side products works well again if expression of the functional NAXD gene was restored in the patient cells. Based on this research, there have been first therapeutic approaches with Vitamin B3 treatment. This treatment had a drastic positive effect on the skin lesions and stabilised the neurological symptoms. This promising result gives hope for understanding, treating and maybe even curing other rare diseases in the future.
“NAXD deficiency is one of more than 6000 rare genetic diseases, many of which have no cure today. In Luxembourg, an estimated 30.000 people are affected by a rare disease,” explains Prof. Linster, highlighting the extent of the rare disease burden. “Studies like this one, where international groups of clinicians and biochemists work hand in hand, show that by understanding the underlying mechanism, we can effectively develop treatments for some of these diseases.”
Here below the video from the FNR Award Ceremony, when Carole Linster receives the award on behalf of her team.
Bringing LCSB’s research closer to the public
The FNR award for Outstanding Promotion of Science to the Public was conferred to Sophie Wagner, Sabine Schmitz, Ruxandra Soare-Lelubre, Lucie Debroux, Lisa Smits and Philippe Lamesch for the exhibition “Mind the Brain”, which marked the 10th anniversary of the LCSB in 2019.
The anniversary represented an important milestone for biomedical research in Luxembourg. Combining art with science, Mind the Brain exhibited 10 giant sculptures in the shape of a brain throughout the city center of Luxembourg. Each of the giant brains was decorated by a renowned Luxembourgish artist and represented one of the research areas of the LCSB. “Outreach has been very important for the LSCB in the last decade,” explains Dr Sabine Schmitz, Head of the LCSB communication team. “Hence, we also wanted to celebrate LCSB’s anniversary with Luxembourg’s population. Partnering with Luxembourgish artists allowed us to make our research visible in an unconventional way!”
The exhibition offered a gateway to biomedical science for the public, with accessible information on research conducted at the LCSB. Additionally, to support both art and biomedical research, the 10 sculptures were on sale. Half of the funds collected went to the artists and the other half currently supports a research project in the field of neurodegenerative diseases.
Here below the video from the FNR Award Ceremony, when Sabine Schmitz receives the award on behalf of her team.
Rewatch the entire award ceremony on the FNR website.