Douglas, Andrew - University of Southampton

个人简介

Andrew Douglas is Clinical Lecturer in Genetic Medicine at the University of Southampton and an Honorary Specialty Registrar at the Wessex Clinical Genetics Service. Dr Douglas studied medicine at the University of Edinburgh, undertaking an intercalated BSc in molecular biology. He is a member of the Royal College of Physicians of Edinburgh. Since 2009 he has been a specialty registrar in clinical genetics at the Wessex Clinical Genetics Service based in Southampton, initially as an Academic Clinical Fellow and latterly as an Academic Clinical Lecturer. During this time he also undertook a Wellcome Trust funded DPhil at the University of Oxford investigating oligonucleotide-based therapies for neuromuscular disease. Dr Douglas has current research projects involving C9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia, oligonucleotide therapies and Duchenne muscular dystrophy. Other research interests include RNA splicing and the blood-brain barrier.

研究领域

Dr Douglas’ principal research interest is the development of oligonucleotide therapeutics for genetic disorders. Oligonucleotides are short nucleic acid-like molecules that generally act by binding to specific RNA transcripts and either knocking them down or otherwise altering their function. An increasing number of previously untreatable genetic conditions are becoming viable targets for his kind of therapeutic approach. The hope is that eventually the majority of genetic conditions will prove amenable to some form of interventional genetic therapy. Dr Douglas has a particular interest in the molecular genetics of neuromuscular disease. In this regard, he is currently working on the C9orf72 gene, in which a hexanucleotide expansion can cause amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Additional research interests include the therapeutic manipulation of RNA splicing in disease, particularly exon skipping in Duchenne muscular dystrophy (DMD), the function of dystrophin protein in the brain, the delivery of oligonucleotide therapies across the blood-brain barrier (BBB) or blood-cerebrospinal fluid barrier (BCSFB) and the molecular genetics of neuromuscular disease. As an academic trainee in clinical genetics, Dr Douglas also maintains an interest in all aspects of this specialty, particularly the application of novel genomic technologies in the diagnosis, assessment and ultimately also the therapy of genetic disorders.

近期论文

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C9orf72 hexanucleotide expansions are associated with altered ER calcium homeostasis and stress granule formation in iPSC-derived neurons from patients with amyotrophic lateral sclerosis and frontotemporal dementia - Dafinca, Ruxandra, Scaber, Jakub, Ababneh, Nida'a, Lalic, Tatjana, Weir, Gregory, Christian, Helen, Vowles, Jane, Douglas, Andrew G.L., Fletcher-Jones, Alexandra, Browne, Cathy, Nakanishi, Mahito, Turner, Martin R., Wade-Martins, Richard, Cowley, Sally A. and Talbot, Kevin Published:2016Publication:Stem CellsPage Range:1-44doi:10.1002/stem.2388PMID:27097283 Recurrent duplications of 17q12 associated with variable phenotypes - Mitchell, Elyse, Douglas, Andrew, Kjaegaard, Susanne, Callewaert, Bert, Vanlander, Arnaud, Janssens, Sandra, Yuen, Amy Lawson, Skinner, Cindy, Failla, Pinella, Alberti, Antonino, Avola, Emanuela, Fichera, Marco, Kibaek, Maria, Digilio, Maria C., Hannibal, Mark C., den Hollander, Nicolette S., Bizzarri, Veronica, Renieri, Alessandra, Mencarelli, Maria Antonietta, Fitzgerald, Tomas, Piazzolla, Serena, van Oudenhove, Elke, Romano, Corrado, Schwartz, Charles, Eichler, Evan E., Slavotinek, Anne, Escobar, Luis, Rajan, Diana, Crolla, John, Carter, Nigel, Hodge, Jennelle C. and Mefford, Heather C. Published:2015Publication:American Journal of Medical Genetics Part AVolume:167, (12)Page Range:3038-3045doi:10.1002/ajmg.a.37351PMID:26420380 Transfer of genetic therapy across human populations: molecular targets for increasing patient coverage in repeat expansion diseases - Varela, Miguel A., Curtis, Helen J., Douglas, Andrew G.L., Hammond, Suzan M., O'Loughlin, Aisling J., Sobrido, Maria J., Scholefield, Janine and Wood, Matthew J.A. Published:2015Publication:European Journal of Human GeneticsVolume:24, (2)Page Range:271-276doi:10.1038/ejhg.2015.94