Research Profile

Dr Karen

Senior Lecturer in Molecular Bioscience

Faculty of Health, Education and Society

  • What is a muscle protein doing in the brain? Help to support our research by sharing and/or donating.  

    Self funded PhD projects are available, please e-mail Dr Anthony.

    Karen studied biochemistry at the University of Leeds during which time she spent one year as a sandwich student at GlaxoSmithKline (GSK), Essex before returning to graduate with a BSc (Hons) in 2005. At GSK Karen experienced the drug discovery process through the large scale purification of protein drug targets. Developing a strong interest in neurodegeneration Karen joined the lab of Dr Jean-Marc Gallo at the Institute of Psychiatry, King’s College London. Her PhD “tau RNA processing in neurodegeneration: trans-acting factors regulating alternative splicing and mRNA localisation” was awarded in 2009. As a post-doc in Dr Gallo’s lab Karen developed RNA reprogramming strategies for neurodegenerative diseases including RNA trans-splicing therapies for spinocerebellar ataxia type 1 and the tauopathies. In 2010 Karen translated her RNA expertise to the neuromuscular field and moved to the Dubowitz Neuromuscular Centre, Institute of Child Health, University College London (UCL). Working with Professor Francesco Muntoni, Karen played a key role in developing antisense oligonucleotide-mediated exon skipping as a therapeutic strategy for Duchenne muscular dystrophy (DMD). Karen’s pre-clinical and clinical work in this area is helping to expedite the translation of exon skipping candidate drugs to the clinic. Karen moved to the University of Northampton in 2015 as a lecturer in molecular bioscience where she is continuing her research activities on RNA processing and RNA therapeutics for neurological disorders.

    Karen blogs about academic life on Weekademia

  • Karen supervises postgraduate research students and teaches on the BSc (Hons) in Human Bioscience and BSc (Hons) in Biology programmes:

    Module Leader:

    • SLS1017: Science Communication
    • SLS2013: Bioscience Research Methods
    • SLS4005: Human Bioscience Dissertation


    • SLS1013: Biochemistry and Molecular Biology
    • SLS2001: Genes and Genomics
    • SLS2004: Processes of Life: Biochemistry
    • SLS2010: Health and Disease 2
    • SLS3002: Integrated Medical Genetics
    • SLS3010: Molecular and Cellular Neuroscience
  • What is a muscle protein doing in the brain? Help to support our research by sharing and/or donating.  

    Self funded PhD projects are available, please e-mail Dr Anthony.

    Karen’s research is focused on RNA processing and the molecular mechanisms of neurodegeneration and neuromuscular disorders. Specific research projects include:

    • Pre-clinical and clinical studies to develop antisense oligonucleotide-mediated exon skipping as a therapy for Duchenne muscular dystrophy (DMD). DMD is caused by mutations in the DMD gene which disrupt the open reading frame and prevent the full translation of its protein product, dystrophin. Restoration of the open reading frame and the production of functional dystrophin can be achieved by exon skipping using antisense oligonucleotides targeted to splicing elements. Working with Professor Francesco Muntoni at University College London Karen has played a key role in the clinical development of candidate exon skipping drugs such as eteplirsen and has developed and validated reliable biochemical outcome measures for DMD clinical trials.
    • Biochemical characterisation of Becker muscular dystrophy (BMD) to better inform DMD drug development. BMD is caused by in-frame DMD mutations that result in the production of an internally truncated dystrophin protein that maintains functionality and typically results in a much milder clinical phenotype than DMD. Lessons can learned from ‘nature’ in regards to the functionality of the internally deleted dystrophin proteins created by exon skipping.
    • Function and therapeutic targeting of dystrophin in the brain. Approximately 30% of DMD patients present with some form of cognitive impairment, Karen is interested in the molecular mechanisms and effective targeting of antisense oligonucleotides to the brain.
    • RNA processing in neurodegeneration. The importance of aberrant RNA processing in neurodegeneration is becoming increasingly clear, this project is concerned with the isolation, identification and characterisation of RNA-binding proteins expressed in the brain. Along this vein Karen has worked on a number of drug targets including tau and TDP-43 and has performed proof-of-concept RNA-based gene therapy studies for neurodegenerative diseases. 
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    This list was generated from NECTAR on Mon Oct 21 03:12:02 2019 BST.
  • 2013

    • Zhou H, Janghra N, Mitrpant C, Dickinson RL, Anthony K, Price L, Eperon IC,
      Wilton SD, Morgan J, Muntoni F. A novel morpholino oligomer targeting ISS-N1
      improves rescue of severe spinal muscular atrophy transgenic mice. Hum Gene Ther. 2013 Mar;24(3):331-42. doi: 10.1089/hum.2012.211. Epub 2013 Mar 6. PubMed PMID: 23339722; PubMed Central PMCID: PMC3609631.


    • Anthony K, Feng L, Arechavala-Gomeza V, Guglieri M, Straub V, Bushby K, Cirak S, Morgan J, Muntoni F. Exon skipping quantification by quantitative reverse-transcription polymerase chain reaction in Duchenne muscular dystrophy patients treated with the antisense oligomer eteplirsen. Hum Gene Ther Methods.
      2012 Oct;23(5):336-45. doi: 10.1089/hgtb.2012.117. PubMed PMID: 23075107.
    • Arechavala-Gomeza V, Anthony K, Morgan J, Muntoni F. Antisense oligonucleotide-mediated exon skipping for Duchenne muscular dystrophy: progress and challenges. Curr Gene Ther. 2012 Jun;12(3):152-60. Review. PubMed PMID: 22533380.
    • Cirak S, Feng L, Anthony K, Arechavala-Gomeza V, Torelli S, Sewry C, Morgan JE, Muntoni F. Restoration of the dystrophin-associated glycoprotein complex after exon skipping therapy in Duchenne muscular dystrophy. Mol Ther. 2012 Feb;20(2):462-7. doi: 10.1038/mt.2011.248. Epub 2011 Nov 15. PubMed PMID: 22086232; PubMed Central PMCID: PMC3277241.


    • Anthony K, Cirak S, Torelli S, Tasca G, Feng L, Arechavala-Gomeza V, Armaroli A, Guglieri M, Straathof CS, Verschuuren JJ, Aartsma-Rus A, Helderman-van den
      Enden P, Bushby K, Straub V, Sewry C, Ferlini A, Ricci E, Morgan JE, Muntoni F. Dystrophin quantification and clinical correlations in Becker muscular dystrophy:
      implications for clinical trials. Brain. 2011 Dec;134(Pt 12):3547-59. doi: 10.1093/brain/awr291. Epub 2011 Nov 18. PubMed PMID: 22102647; PubMed Central PMCID: PMC3235564.
    • Cirak S, Arechavala-Gomeza V, Guglieri M, Feng L, Torelli S, Anthony K, Abbs S, Garralda ME, Bourke J, Wells DJ, Dickson G, Wood MJ, Wilton SD, Straub V, Kole R, Shrewsbury SB, Sewry C, Morgan JE, Bushby K, Muntoni F. Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study. Lancet. 2011 Aug 13;378(9791):595-605. doi: 10.1016/S0140-6736(11)60756-3. Epub 2011 Jul 23. PubMed PMID: 21784508; PubMed Central PMCID: PMC3156980.


    • Anthony K, Gallo JM. Aberrant RNA processing events in neurological disorders. Brain Res. 2010 Jun 18;1338:67-77. doi: 10.1016/j.brainres.2010.03.008. Epub 2010 Mar 10. Review. PubMed PMID: 20226177.


    • Rodriguez-Martin T, Anthony K, Garcia-Blanco MA, Mansfield SG, Anderton BH, Gallo JM. Correction of tau mis-splicing caused by FTDP-17 MAPT mutations by spliceosome-mediated RNA trans-splicing. Hum Mol Genet. 2009 Sep 1;18(17):3266-73. doi: 10.1093/hmg/ddp264. Epub 2009 Jun 4. PubMed PMID: 19498037; PubMed Central PMCID: PMC2722988.


    • Chapple JP, Anthony K, Martin TR, Dev A, Cooper TA, Gallo JM. Expression, localization and tau exon 10 splicing activity of the brain RNA-binding protein TNRC4. Hum Mol Genet. 2007 Nov 15;16(22):2760-9. Epub 2007 Aug 28. PubMed PMID: 17725984.