Queen Square Centre for Neuromuscular Diseases
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- Celebration of the life and work of John Morgan Hughes and the discovery of mitochondrial DNA disease A very successful celebration of the life and work of John Morgan Hughes took place at the Royal College of Physicians on the 25th April. Details of the programme and the launch of the John Morgan Hughes fellowship can be found at the following link htpps://www.justgiving.com/John-Morgan-Hughes-Fellowship/
- A business case to develop a Neuromuscular Complex Care Centre has been approved by the UCLH Trust Executive Board
- MRC Centenary Year 2013 - info and events
Annual Channelopathy Patient Information Day
Saturday 22nd June 2013 at Queen Square, London
Annual Mitochondrial Patient Information Day
Saturday 6th July 2013 at Queen Square, London
MSG Scientific Annual Meeting 2013 - Oxford
16-18 September 2013
Alasdair Wood
Newcastle Neuromuscular Research Group
Supervisor: Volker Straub
Additional Supervisors: Rita Barresi, Juliane Mueller
My honours project at Aberdeen University gave me an interest in muscle; the project was investigating atrogene expression in muscle cell development. After my undergraduate degree I was lucky enough to be offered a place to further my studies in muscle here at the Centre for Life in Newcastle as part of the MRC Centre for Neuromuscular Diseases. Now entering the final year of my PhD, I am still as fascinated by muscle as I was when I started here in Newcastle three years ago. My project focuses on studying rare forms of muscular dystrophy that result from deficiencies in either FKRP (fukutin related protein) or fukutin.
FKRP deficiency in humans can result in conditions ranging from limb girdle muscular dystrophy to more severe congenital muscular dystrophy. The project investigates FKRPs and fukutins function in zebrafish. Zebrafish are an excellent developmental biology tool which are easy to manipulate genetically by means of antisense oligonucleotide morpholino injection. The knock downs can be investigated during their entire embryonic life because of their rapid ex-utero development. The main drawback is the efficacy of the morpholino over the life of the embryo which becomes increasingly dilute. To negate these problems we are currently attempting to use zinc finger nucleases to generate a stable mutant fish line to complement the morpholino studies. A stable mutant line will allow an investigation natural history of the disease that results from either FKRP or fukutin deficiency.
