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Featured Scientist: Feb. 2014


Dr. Mark Pook

By David Woods PhD

Brings passion and hope to a career in research and teaching.

As an Associate Professor at Brunel University London, Mark Pook has influenced a generation of students. But what influenced him to devote a career to unraveling a solution to Friedreich’s Ataxia? It started in 1993, he says, when he joined the laboratory of Dr. Susan Chamberlain, a genetic researcher who first localized the FA disease locus to chromosome 9 and who helped to set up the UK patient support group in FA. “She was a mentor who inspired me,” he says, and when the FA gene was identified in 1996, Mark was intrigued by the expanded GAA repeat molecular basis of the disease and he became determined to understand more about the disease by developing cell and mouse models as a means to finding FA treatments.

Even though FA is rare, it has attracted a great deal of interest among researchers and a considerable amount of grant support. Mark himself has generated more than $1 million from some 25 grants and is currently working on a $99,000 FARA grant exploring HMTase inhibitors as a novel epigenetic–based therapeutic approach for FA.

But he's not just looking through a microscope for clues to finding a cure. He actively excites his students about the hope and possibilities of his chosen area of expertise. In fact, even though Brunel is a London university, it's actually located towards the outside of the city, near Heathrow airport -- a handy place for a traveling ‘ambassador’ for FA. Mark has given literally scores of presentations around the world, including the Netherlands, the Czech Republic, France, Spain, Costa Rica, and Canada … and on several occasions in the United States. He was, for instance, an invited speaker at the recent FARA mouse models and cell and gene therapy task force meeting in Philadelphia.

And when he's not out on the speaking circuit on behalf of FA, he's writing about it. Mark is the author or co-author of more than 40 peer-reviewed journal articles which have been cited more than 800 times, or 24 times per publication. He is also the editor of an Indian journal on genetics and the Chinese Journal of Biological Chemistry. Add to that -- running the Ataxia Research Group, supervising the research project work of doctoral and masters program students… as well as that of more than 40 BSc candidates, and as an examiner for PhD viva candidates.

While Mark has no personal connection to FA, a friend's daughter was recently diagnosed with the disease, as were two of the students at Brunel. In getting out to talk to individual FA patients, Mark says he finds them to be generally stoical and upbeat. Asked what he would say to a 14-year-old with that disease, he says he'd invite him to look at the FARA ‘FA treatment pipeline’ of research and therapeutic activity and think about the huge amount of resources aimed at finding a cure and the prevailing optimism about doing so.

In all this whirlwind of intellectual activity what does he do in his spare time? While acknowledging that he doesn't have too much of that precious commodity, as a person living close to a vibrant metropolis he likes to explore the museums and galleries of London and is a devotee of music and the arts.

The big challenge in FA is how to effectively and safely raise the level of frataxin in patients’ cells, either by means of a drug compound or by the introduction of the frataxin protein or gene. Mark's future research plans involve continuing to develop the GAA repeat-based FA mouse model, to investigate the effect of GAA repeat instability in selective tissues on FA disease progression, to further explore the epigenetic molecular basis of disease, and to investigate novel potential FA therapies.

Mark knew that his destiny was to pursue a career in FA research when he attended the first FARA International FA Research Conference in Bethesda in 1999, where the accommodation was based in the ‘Pook Marriott Hotel’ on ‘Pook’s Hill Road’! Since then, the FA research and patient community has become a home that he is privileged to be a part of.

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