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Page last checked: 5th April 2023
Last updated: 8th November 2019

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


8th November: New study improves understanding of impaired SMA pathway >

21st February: UK SMA Research Day 2019 >


11th January: Novel antisense therapy removes the brakes on SMN proetin production >


22nd September: Molecular “homing devices” drastically improve SMA therapy >

13th September: The basic cellular process of endocytosis is impaired in SMA models >


17th December: Blood vessel defects contribute to SMA motor neuron loss >

6th January: SMN gene therapy in a large SMA model >


13th August: New highly selective SMN2 modifying drug identified >

20th March: New therapeutic target for SMA identified >


1st January: Plastin 3 is a potential therapeutic target for SMA >


15th November: SMN Protein: not just important for the nervous system >