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个人简介
My research interests are the genetics of MND and how gene expression profiling can be used to investigate the pathogenic mechanisms of neurodegeneration and to identify diagnostic and prognostic biomarkers. MND is genetically heterogeneous, with over 30 genes identified for the most common form of the disease, amyotrophic lateral sclerosis (ALS), which in some patients can also be associated with frontotemporal dementia (FTD). The use of next generation sequencing, both whole exome and whole genome sequencing has significantly increased the identification of new genes.
My research therefore focuses on obtaining gene expression profiles from experimental models of the disease and from patient and control samples, in order to both elucidate the reasons why the motor neurones are dying and to identify useful biomarkers of ALS, including micro RNAs and other non-coding RNAs. More recently, as part of a large clinical trial, I am assessing the impact of therapeutic treatments on the blood transcriptome to help understand the mechanisms of action of low dose interleukin-2.
研究兴趣
论文共 122 篇作者统计合作学者相似作者
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Hugo Alarcan,Clément Bruno,Patrick Emond,Cédric Raoul, Patrick Vourc'h,Philippe Corcia,William Camu,Jean‐Luc Veyrune,Cecilia Garlanda,Massimo Locati, Raúl Juntas‐Morales,Safaa Saker,
crossref(2024)
Hugo Alarcan,Clément Bruno, Patrick Emond,Cédric Raoul, Patrick Vourc'h,Philippe Corcia,William Camu,Jean-Luc Veyrune,Cecilia Garlanda,Massimo Locati, Raúl Juntas-Morales,Safaa Saker,
Annals of the New York Academy of Sciences (2024)
Scott P Allen, Afnan Al Sultan, Elaine Kabucho Kibirige, Erin Tonkiss, Keaton J Hamer,Lydia M Castelli,Ya-Hui Lin,Sarah Roscoe, Nikolaos Stefanidis,Richard J Mead,J Robin Highley,Johnathan Cooper-Knock,
Rachel Waller,Joanna J. Bury, Charlie Appleby-Mallinder,Matthew Wyles, George Loxley, Aditi Babel, Saleh Shekari, Mbombe Kazoka, Helen Wollff,Ammar Al-Chalabi,Paul R. Heath,Pamela J. Shaw,
BRAIN COMMUNICATIONSno. 1 (2023): fcad331-fcad331
Shepheard, Parker,J Cooper-Knock, NS Verber, L Tuddenham,PR Heath, N Beauchamp, E Place, Esa Sollars,M Turner,A Malaspina,P Fratta,
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