RNA Sequencing of the neuromuscular junction to evaluate the role of skeletal muscle gene expression in FUS-associated amyotrophic lateral sclerosis (ALS)Amyotrophic lateral sclerosis (ALS) is the most frequent adult-onset motor neurodegenerative disease, resulting in paralysis and death due to respiratory failure. ALS is an incurable disease, with only two FDA-approved drugs which only marginally extend survival without affecting disease progression. In order to develop future therapeutic approaches that could block the onset or the progression of ALS we must identify the molecular derailments leading to the pathology. In the project, we will investigate the role of skeletal muscle in the pathogenesis of ALS and by using cutting-edge subcellular RNA sequencing approaches, identify potential therapeutic targets in this tissue. The project will resolve an ongoing debate in the field: does skeletal muscle contribute to ALS pathogenesis? Main applicant: Anne WienandResearch institutes involved: DCN, RIMLS
On the path of green: science with a light footprint Anne Wienand Donders Institute. 2022 Honorable Mention In this photo, we can see an ALS mouse, a neurodegenerative model characterized by impairments of the motor system, exploring the CatWalk. This task uses the play of colors to help us detect the footprints of mice and test gait and locomotion. Provokingly, the mouse there evokes the construct of walking on a green track with light footprints, which resonates with the idea of diminishing the negative impact of animal research. As in the photo, even a light footprint on a green path still requires animal research, and it is as important to acknowledge this as it is to move towards more sustainable science.
The Swiss National Science Foundation has awarded a postdoc fellowship to María Landínez Macías to conduct her research in the Lab of Prof. Dr. Erik Storkebaum. Her project aims at dissecting molecular mechanisms of Charcot Marie Tooth (CMT) disease, and subsequently use this knowledge to develop therapeutic applications.
A team of scientists led by Erik Storkebaum of Radboud University’s Donders Institute have deciphered the molecular mechanism underlying a form of Charcot-Marie-Tooth (CMT) peripheral neuropathy. This disease affects both motor and sensory nerves. This scientific breakthrough suggests a new form of treatment for this incurable disease. Their findings will be published in Science on 3 September.
The antiretroviral drug Efavirenz (EFV) is used for treatment of HIV infection, and successfully inhibits viral replication and mother-to-child transmission of HIV during pregnancy and childbirth. Unfortunately, the drug induces neuropsychiatric symptoms such as anxiety and depressed mood and potentially affects cognitive performance.
The muscular disease ALS manifests itself at the point of contact between nerves and muscles. During research into a genetic variant of ALS, Erik Storkebaum and his colleagues discovered that the disease causes muscle damage almost immediately. However, research and treatment conducted so far has mainly focused on nerves.
Several interdisciplinary teams under the supervision of, or in collaboration with Donders researchers will receive a subsidy from the Dutch National Research Agenda (NWA) programme. Sharon Kolk will lead a project about rare genetic syndromes. Bas Stunnenberg and Gert-Jan van de Wilt are collaborating in a project about developmental brain disorders.