Spinal muscular atrophy at the crossroads of basic science and therapy

Abstract

The 8th annual UK spinal muscular atrophy (SMA) Dr. Eduardo Tizzano (Hospital de Santa Creu i Sant research conference, jointly organised and sponsored by the SMA Trust and the Jennifer Trust for SMA, was held onOctober 3–4, 2011 inOxford, UK.Hosted by Prof. Kevin Talbot at the Oxford Belfry Hotel, the meeting was attended by over 40 researchers and clinicians from across Europe and a total of 17 platform presentations were given. The first day of talks provided a new perspective on the basic functions of the survival motor neuron (SMN) protein, challenged the general assumption that SMA is simply a disorder of the lower motor neuron, and provided interesting ideas on the cause of motor neuron specificity seen in the disease; the second day concentrated on practical aspects of clinical trials in SMA and explored some emerging therapies that are at the cusp of translation to human trials. Presentations on the first day were given by Prof. Michael Sendtner (University of Wurzburg, Germany) on a neuronal specific function of SMN, Dr. Thomas Wishart (University of Edinburgh, UK) on SMN protein expression at the synapse, Dr. Zameel Cader (University of Oxford, UK) on a non-cell autonomous mechanism of neuronal toxicity in distal SMA type V, Dr. Judith Sleeman (University of St. Andrews, UK) on small nuclear ribonucleoprotein dynamics and splicing, Prof. Thomas Gillingwater (University of Edinburgh, UK) on the differential susceptibility of tissues to SMN depletion, Dr. Simon Parson (University of Edinburgh, UK) on the microvasculature in a severe mouse model of SMA, Miss. Maria Gabriela Boza-Moran (University of London, UK) on using stem cells to elucidate pathological mechanisms of SMA, Dr. Heidi Fuller (Keele University, UK) on the proteomic effects of salbutamol treatment on SMA fibroblasts, and