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Understanding the pathogenesis of Alkaptonuria, an inborn error of metabolism; lessons from a rare genetic condition

Published: 25 April 2016

Bone and Joint Seminar Thursday 28th April at 1.00 pm in the IDS Seminar Room, Level A, IDS Building

Adam Taylor

Director of the Clinical Anatomy Learning Centre & Senior Lecturer in Anatomy, University of Lancaster

Abstract:

Dr William Harvey, best known for his discovery of the circulation of blood in the 17th century was quoted, shortly before his death “It is even so – Nature is nowhere more accustomed more openly to display her secret mysteries than in cases where she shows traces of her workings apart from the beaten path; nor is there any better way to advance the proper practice of medicine than to give our minds to the discovery of the usual law of Nature, by careful investigation of rarer forms of disease For it has been found, in almost all things, that what they contain of useful or applicable is hardly perceived unless we are deprived of them, or they become deranged in some way.”

The talk will cover a brief introduction of the rare genetic disease Alkaptonuria (AKU) before detailing the research that has seen development of an in vitro model, advances in animal models and understanding of the progression of the joint disease in these patients. These changes are on a macro- and microscopic level, cellular and extracellular, whilst many of these changes are specific to this condition a number of “incidental” discoveries have seen identification of novel bone and cartilage phenotypes that have wider implications in both health and disease for the general population.

Biography

Dr Adam Taylor is a Senior Lecturer in Anatomy & Director of the Clinical Anatomy Learning Centre at Lancaster Medical School, Lancaster University. Adam commenced his undergraduate studies in Human Anatomy & Cell Biology at the University of Liverpool. He remained in Liverpool in the laboratory of Professor Jim Gallagher to undertake his PhD, supervised by Prof’s Gallagher and Ranganath. His thesis examined the pathogenesis of ochronosis (darkening of collagenous tissues) and joint destruction in the rare genetic disorder Alkaptonuria. During the course of his studies he helped develop an in vitro model of the disease, document the first observations of ochronosis in a mouse model and characterise the pathogenesis of joint damage and destruction in the human joints of sufferers. During his time he spent periods of time in the laboratories of Prof Alan Boyde (QMUL) and Virginia Kraus (Duke University). In Oct 2011, on completing his PhD he was appointed to a lectureship at Lancaster Medical School, he took over as Director of the Clinical Anatomy Learning Centre in 2013 and was appointed to aa Senior Lectureship in 2014. He has served the Basic Science New Investigator Representative for the Bone Research Society and is currently the Deputy Secretary for the Anatomical Society.

 

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