Wirth Lab shows that across various SMA models (worm, zebrafish and mouse), blocking or reducing the levels of NCALD rescues SMA-derived disease pathological changes of the motor neuron (MN) and neuromuscular junction (NMJ). The team of scientist were also able to demonstrate that a combinatorial therapy using low dose of survival motor neuron (SMN)- antisense oligonucleotides and 50% NCALD reduction, restored survival, MN and NMJ function and motor abilities in a severe SMA mouse model.
The scientist believe that results from the study “confirm that endocytosis is a major cellular mechanism perturbed in SMA and emphasize the power of protective modifiers for understanding disease mechanism and developing therapies”.
Welcome to Neuromics, a research project funded by the European Commission for five years.
In reality, so-called rare diseases are anything but rare. 6-8% of the European population – between 27 and 36 million people – are affected by one of the 5000-8000 distinct rare diseases.
Neuromics studies 10 rare neurodegenerative and neuromuscular diseases...read more
New therapeutic possibilities: Wirth lab found SMA cellular mechanism after 20 years since gene discovery using gene modifiers download this paper