Mark Pook

Academic qualifications

Profile

Dr Mark Pook graduated with a BSc (Hons) Genetics from the University of Leeds in 1985 and a PhD in Medical Genetics from the University of Manchester in 1990. He then undertook post-doctoral appointments in the MRC Molecular Medicine Group, RPMS, Hammersmith Hospital from 1989-1993 and the Cell and Molecular Biology Section, Imperial College London from 1993-2002. He was appointed as Lecturer in Genetics at Imperial College London from 2002-2005 and then he transferred to Brunel University as a Lecturer in Biosciences from 2005-2007 and he became a Senior Lecturer in 2007.

Committee responsibilities

• School Board
• School Research Ethics Committee
• School Human Tissue Authority (HTA) Person Designate
• Brunel University Ethics Committee (IFE)
• University HTA-Compliance Committee

Admin responsibilities

• Deputy Undergraduate Admissions Tutor
• Royal Literary Fund Fellow coordinator
• Centre for Systems and Synthetic Biology (CSSB) seminar series coordinator

Teaching responsibilities

• Module and programme teaching responsibilities
• Level 1 ‘Biology of the Cell’ Module Co-ordinator

PhD supervision

• Mr Allan Ahern (Imperial College London) PhD awarded 2002
• Mr Ricardo Mouro Pinto (Brunel University) PhD awarded 2010
• Mr Tibor Pastor (Open University, ICGEB, Trieste, Italy) PhD awarded 2010
• Mr Chiranjeevi Sandi (Brunel University) PhD awarded 2010
• Vahid Ezzatizadeh, funded by GoFAR Italy, Ataxia UK and FARA-US, 2009-present
• Christopher Paterson (joint supervision with D. Gilbert and X. Liu, SISCM), 2010-present
• Sarah Anjomani Virmouni, 2011-present
• Hassan Khonsari, funded by Ataxia UK, FARA-US, FARA-Aus (joint supervision with M Themis), 2011-present
• Madhavi Sandi (joint supervision with G Makarov), 2011-present

Teaching interest

Molecular Genetics

Research interests

Dr Mark Pook has had a long-standing interest in molecular genetic studies of the inherited neurodegenerative disorder, Friedreich ataxia (FRDA), contributing since 1993 to the mapping of the disease locus, the isolation of candidate genes and the identification of novel FXN mutations. He also has many years experience in transgenic technology, culminating in the development of GAA repeat expansion-containing human YAC FRDA transgenic mouse models for the investigation of FRDA disease pathogenesis and therapeutic studies. Current research interests include studying the effects of epigenetic modifications and GAA repeat instability in FRDA pathogenesis, and the development of mouse neural stem cell (NSC) culture systems generate neuronal and glial cellular models of FRDA.

Research centres

• Brunel Institute for Ageing Studies (BIAS)
• Brunel Institute for Cancer Genetics and Pharmacogenomics (BICGP)
• Centre for Cell and Chromosome Biology (CCCB)
• The Centre for Systems and Synthetic Biology (CSSB)

Research projects and grants

2009-2011

GoFAR, Ataxia UK and FARA-US “Development of an improved GAA repeat expansion mutation-based mouse model of Friedreich ataxia for therapeutic testing” (PI) €125,744

2009-2012

Wellcome Trust “Investigating Friedreich ataxia molecular disease mechanisms and therapy using mouse model neural stem cell technology” (PI) £266,225

2010-2014

EC FP7 “European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS)” €5,983,379 (Co-I, PI Massimo Pandolfo, Belgium) €665,912 awarded to M. Pook, D. Gilbert, X. Liu and A. Payne, Brunel University.

2011-2014

Ataxia UK, FARA-US and FARA-Aus “An investigation to determine the efficacy and safety of lentivirus mediated FXN gene delivery for the correction of Friedreich ataxia” £82,355 (Co-I, PI M. Themis, Brunel University).

Membership and affiliation

• The American Society of Human Genetics
• The European Society for Human Genetics
• The British Society for Human Genetics
• The Clinical Molecular Genetics Society
• The Genetics Society
• The Royal Society of Medicine (associate member)
• Fellow of the Higher Education Academy

Professional activities or recognition

External Examiner for MSc Medical Genetics, London Metropolitan University

Conferences

• Invited speaker at the 6^th Unstable Microsatellites and Human Disease Conference, Costa Rica, January 2009
• Invited speaker at the Friedreich’s Ataxia research Alliance Therapeutics Symposium, Philadelphia, USA, July 2009
• Invited speaker at the Euro-Ataxia Conference, Valladolid, Spain, September 2009
• Invited speaker at the First International Conference on Metal Chelation in Biology and Medicine, Bath, December 2009
• Invited speaker at the International Symposium on Epigenetics, Chromatin Remodelling and Disease, Valencia, Spain, July 2010
• Invited speaker at the Ataxia UK annual meeting, Stanstead, UK, October 2010
• Poster presentation at the 24^th International Mammalian Genome Conference, Heraklion, Crete, October 2010
• Organiser of the first EFACTS basic research meeting, Brunel University, Nov 2010
• Session chair at the 4^th International Friedreich’s Ataxia Conference, Strasbourg, May 2011

Publications

Journal Papers

(2012) Tomassini, B., Arcuri, G., Fortuni, S., Sandi, C., Ezzatizadeh, V., Casali, C., Condò, I., Malisan, F., Al-Mahdawi, S., Pook, M. and Testi, R., Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model., Hum Mol Genet 21 (13) : 2855- 2861 Download publication

(2012) Ezzatizadeh, V., Mouro Pinto, R., Sandi, C., Sandi, M., Al-Mahdawi, S., te Riele, H. and Pook, MA., The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model, Neurobiology of Disease 46 (1) : 165- 171 Download publication

(2011) Sandi, C., Pinto, RM., Al-Mahdawi, S., Ezzatizadeh, V., Barnes, G., Jones, S., Rusche, JR., Gottesfeld, JM. and Pook, MA., Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model, Neurobiology of Disease 42 (3) : 496- 505

(2010) Laitano, O., Kalsi, KK., Pook, M., Oliveira, AR. and González-Alonso, J., Separate and combined effects of heat stress and exercise on circulatory markers of oxidative stress in euhydrated humans, European Journal of Applied Physiology 110 (5) : 953- 960

(2008) Chen, X., Tang, T-S., Tu, H., Nelson, O., Pook, M., Hammer, R., Nukina, N. and Bezprozvanny, I., Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3, The Journal of Neuroscience 28 (48) : 12713- 12724 Download publication

(2008) Al-Mahdawi, S., Pinto, RM., Ismail, O., Varshney, D., Lymperi, S., Sandi, C., Trabzuni, D. and Pook, M., The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues, Human Molecular Genetics 17 (5) : 735- 746 Download publication

(2007) De Biase, I., Rasmussen, A., Endres, D., Al-Mahdawi, S., Monticelli, A., Cocozza, S., Pook, M. and Bidichandani, S., Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients, Annals of Neurology 61 (1) : 55- 60

(2007) De Biase, I., Rasmussen, A., Monticelli, A., Al-Mahdawi, S., Pook, M., Cocozza, S. and Bidichandani, SI., Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life, Genomics 90 (1) : 1- 5 Download publication

(2007) Clark, RM., De Biase, I., Malykhina, AP., Al-Mahdawi, S., Pook, M. and Bidichandani, SI., The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model, Human Genetics 120 (5) : 633- 640 Download publication

(2006) Al-Mahdawi, S., Pinto, RM., Varshney, D., Lawrence, L., Lowrie, MB., Hughes, S., Webster, Z., Blake, J., Cooper, JM., King, R. and Pook, MA., GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology, Genomics 88 (5) : 580- 590 Download publication

(2004) Griffin, JL., Cemal, CK. and Pook, MA., Defining a metabolic phenotype in the brain of a transgenic mouse model of spinocerebellar ataxia 3, Physiological Genomics 16 (3) : 334- 340

(2004) Al-Mahdawi, S., Pinto, RM., Ruddle, P., Carroll, C., Webster, Z. and Pook, M., GAA repeat instability in Friedreich ataxia YAC transgenic mice, Genomics 84 (2) : 301- 310

(2002) Cemal, CK., Carroll, CJ., Lawrence, L., Lowrie, MB., Ruddle, P., Al-Mahdawi, S., King, RHM., Pook, MA., Huxley, C. and Chamberlain, S., YAC transgenic mice carrying pathological alleles of the MJD1 locus exhibit a mild and slowly progressive cerebellar deficit, Human Molecular Genetics 11 (9) : 1075- 1094

(2001) Pook, MA., Al-Mahdawi, S., Carroll, CJ., Cossée, M., Puccio, H., Lawrence, L., Clark, P., Lowrie, MB., Bradley, JL., Cooper, MJ., Kœnig, M. and Chamberlain, S., Rescue of the Friedreich's ataxia knockout mouse by human YAC transgenesis, neurogenetics 3 (4) : 185- 193

Conference Papers

(2010) Pook, M., Al-Mahdawi, S., Sandi, C., Mouro Pinto, R. and Ezzatizadeh, V., Epigenetic changes in Friedreich ataxia pathogenesis and therapy, 24th International Mammalian Genome Conference,

(2010) Pook, MA., Sandi, C., Mouro Pinto, R., Ezzatizadeh, V. and Al-Mahdawi, S., Epigenetic changes in Friedreich ataxia pathogenesis and therapy., International Symposium on Epigenetics, Chromatin Remodeling and Disease

(2010) Sandi, C., Pook, M., Mouro Pinto, R., Al-Mahdawi, S., Ezzatizadeh, V., Barnes, G., Jones, S., Rusche, JR. and Gottesfeld, JM., Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model, 4th International Friedreich's ataxia scientific conference

(2009) Pook, MA. and Al-Mahdawi, S., Iron chelation therapy for Friedreich ataxia, First International Conference on Metal Chelation in Biology and Medicine

(2009) Pook, MA., Mouro Pinto, R., Sandi, C., Ezzatizadeh, V. and Al-Mahdawi, S., Analysis of GAA instability and epigenetic changes in Friedreich ataxia using a GAA repeat-containing FXN transgenic mouse model, Euro-Ataxia Conference 2009

(2009) Pook, M., Mouro Pinto, R., Sandi, C. and Al-Mahdawi, S., GAA repeat expansion-based FRDA transgenic mouse models, Friedreich's Ataxia Research Alliance Therapeutics Symposium

(2009) Al-Mahdawi, S., Mouro Pinto, R., Sandi, C., Ezzatizadeh, V., Aichinger, C., Boykin, D., Bidichandani, S. and Pook, MA., GAA repeat instability and GAA-induced epignetic effects in a mouse model of Friedreich Ataxia, 6th Unstable Microsatellites and Human Disease Conference

Book Chapters

(2012) Pook, M., DNA methylation and trinucleotide repeat expansion diseases. In: Tatarinova, T. and Kerton, O. eds. DNA Methylation - From Genomics to Technology. on-line : InTech 193- 208