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Basic Research

Basic Research takes place in the laboratory and is the first step in developing treatments and a cure for SMA. Basic research projects investigate the cause and biology of SMA in order to better understand the disease and help to identify the most effective strategies for drug discovery.

It was through basic research that it was discovered that SMA is caused by mutations in the survival motor neuron 1 gene (SMN1). Basic research has led to an improved understanding of the role of the survival motor neuron (SMN) protein and also helped to identify potential ways of manipulating the ‘back-up’ SMN2 gene to treat the condition.

Progress Highlights

2017

Novel Antisense Therapy Removes the Brakes on SMN Protein Production
 

2016

MOLECULAR “HOMING DEVICES” DRASTICALLY IMPROVE SMA THERAPY

The basic cellular process of endocytosis is impaired in SMA Models
 

2015

Blood Vessel Defects Contribute to SMA Motor Neuron Loss

SMN Gene Therapy in a Large SMA Model
 

2014

New Highly selective smn2 modifying drug identified

new therapeutic target for sma identified
 

2013

plastin 3 is a potential therapeutic target for sma