Part of the VIB-UAntwerp Center for Molecular Neurology, the research group led by Christine Van Broeckhoven has a long history of collaborating with neurologists and different neurological centers across Belgium. Multidisciplinary cooperation between molecular genetics research and clinical neurology has led to pioneering scientific breakthroughs. This network of researchers and clinics, called the Belgian Neurology (BELNEU) Consortium and coordinated by Christine Van Broeckhoven, has helped propel dementia and neurodegenerative brain research in Flanders into the global spotlight.
PhD students Sara Van Mossevelde and Hung Nguyen Phuoc, as well as staff scientist Julie van der Zee, collaborate with Christine Van Broeckhoven. They have only praise for the BELNEU consortium – which helped enable the pioneering success of two of their most recent publications.
Can you give us more details about BELNEU and its function?
Christine: “The BELNEU consortium is contributing to the systematic recruitment of well-documented research participants for clinical, molecular and genetic research. The consortium consists of partners active in 14 specialized memory clinics and neurology departments across Belgium.”
Your lab recently produced two papers in collaboration with the BELNEU consortium. Tell us more?
Hung: “For our study, published in Neurobiology of Aging, we screened the gene NEK1, which is associated with increased risk of ALS. We discovered that NEK1 mutations were present in 1% of ALS patients in Belgium. Using cutting-edge sequencing technologies, we were able to identify several types of common and rare genetic variants in NEK1.”
Sara: “Our paper, which was recently accepted for publication in JAMA Neurology, also features the genetic screening of patients. We studied 36 Belgian extended families with mutations in the C9orf72 gene, modeling age at disease onset, disease duration and age at death, and provided clinical evidence for disease anticipation of frontotemporal dementia and ALS in families with C9orf72 mutations, highlighting a decrease in onset age across successive generations.”
Based on your results, what are the steps forward to new disease therapies?
Hung: “Our research supports a role for NEK1 in DNA damage response and repair processes within cells. We will further explore the cellular pathways of NEK1, since more insight into the pathomechanism will be essential to developing effective ALS therapies.”
Sara: “A better prediction of onset age within a family segregating a C9orf72 expansion mutation might help doctors to define the right moment to start following up asymptomatic mutation carriers. Moving forward, doctors may be able to maximize patient quality of life and map out personalized treatment strategies.”
What benefits does working with the BELNEU Consortium have on your research?
Christine: “Because of the collaboration with the BELNEU consortium partners, our lab has been able to significantly boost patient participation in our research.”
Julie: “Large numbers of patients are necessary to obtain reliable genetic results. Consequently, we have several collaborative papers on behalf of the BELNEU Consortium that acknowledge both the scientists as well as the neurologists.”
Nguyen, Van Mossevelde et al., Neurobiology of Aging 2017
Van Mossevelde, van der Zee, et al., Jama Neurology 2017