The Gordon Conference 

UK Association Sponsors Participation in Prestigious Gordon Conference In October 2010’s Gauchers News, we reported that the UK Gauchers Association were to sponsor six bursaries to UK-based scientists to attend the first Gordon Conference on Lysosomal Storage Diseases which included Gaucher disease in Texas, USA in January 2011. The organising committee allocated the bursaries through an application process and those awarded give their individual reports –

Luke Haslett My work in the field of LSDs started during a research placement with Prof.Fran Platt and Dr.Emyr Lloyd-Evans at the University of Oxford. While there, I studied the relationship between Smith-LemliOpitz Syndrome (SLOS), a disorder of cholesterol synthesis and Niemann-Pick Disease Type C (NPC), a rare LSD. During this study we observed that these diseases are similar at the cellular level and that Miglustat was a potentially useful treatment for SLOS; our collaborators received funding to run a clinical trial with this drug. I am continuing this work in Dr. Emyr Lloyd-Evans’ newly established lab at Cardiff University. Thanks to the bursary, I attended the Gordon Conference on LSDs in Texas and presented a poster on this work. It was well received and the interest shown lead to me being selected to give a talk on my major findings followed by a discussion of the work with other conferees. The Conference convinced me to stay in the field of LSDs and I met others working in the field, from established researchers to students and young post docs. During the conference I also became a member of the committee charged with organizing a Gordon Research Seminar before the next conference on LSDs – a one day event allowing researchers with comparable levels of experience to present their work in a less formal atmosphere. I would like to thank the UK Gauchers Association for the opportunity and I hope those experiences help me conduct research which provides insight into LSDs in the future.

Dr Angharad Watson University of Manchester I began my PhD in 2006 at the University of Manchester in the newly-formed Mucopolysaccharidosis Stem Cell Group, under the supervision of Dr Brian Bigger. The group has interests in Mucopolysaccharidosis (MPS) I, IIIa and IIIb, and studies disease pathology, biomarkers for diagnostic tests and gene therapy. My work focused on MPS I Hurler, and my PhD examined ways that materials stored in LSDs might alter signalling interactions, and thus contributes to the disease pathology or treatment difficulties. In the case of MPS I Hurler, I was interested in how the storage substrate heparan sulphate might be interfering with the important signals needed to guide donor stem cells to the bone marrow after transplant. During my PhD, I discovered many things about MPS I Hurler heparan sulphate, including its role in inhibiting the arrival of transplanted stems cells in bone marrow. This finding supplied the content of the work I presented at the GRC. The GRC surpassed all my expectations. The prospect of meeting people I had known by reputation was daunting, but by the end, they had become friendly faces. Hearing their opinions was a positive experience, and made me much more confident about taking my work forward to publication and peer review.

Denis Marchesan I graduated from the University of Padua and carried out my PhD at the University of Gothenburg. Currently I am a research associate in the Department of Medicine, at the University of Cambridge. I am working in Professor Cox’s laboratory and we are interested in studying the mechanism of enzymatic uptake in the cells from patients with LSDs. We believe that by understanding the way the enzymes enter the more relevant cells, we will have tools for improving the current ERT, whose efficacy in all diseases except Gaucher disease is still modest. I applied to attend the GRC which gave me the opportunity to present our work in form of a scientific poster and to meet with the leading LSD scientists worldwide. We also had interesting feedback that we’ll use and we could start and renew collaborations with academic and industry colleagues. These meetings are important because the best unpublished data is presented and this helps us to know what is happening. It also has a strong impact in the possibility of coordinating and optimizing research in groups worldwide with overlapping interests and I am very grateful to the Association for my bursary.

Dr Tim Sargeant I’m a postdoctoral scientist at the Department of Medicine at the University of Cambridge. My PhD, which I completed in at Victoria University in New Zealand, investigated aspects of opiate use and foetal brain development. I currently research with Professor Cox and Dr Cachón-González who are developing gene therapy for Tay-Sachs and Sandhoff disease. My role is to develop and characterise an innovative disease model that will help us understand what aspects of GM2 gangliosidoses are treatable with gene therapy and what factors define the therapeutic window for treatment. In conjunction with others, my research also encompasses investigating what pathological processes are responsible for development of neurological symptoms in GM2 gangliosidoses. The GRC put me into contact with leaders in different aspects of research I am interested in. I presented data on the disease model I am developing and received critical appraisal. Due to the nature of these conferences, I was also able to talk to others working on developing similar models and we could talk about technical aspects of our work that are almost impossible to find in the literature. The opportunity to attend this conference not only put me into contact with experts, it also showed me how research on LSDs is rapidly changing and what new directions the field is taking.

Chun-Wu Chen (Oscar Chen) I am doing my PhD at the Department of Pharmacology, University of Oxford. My research interests are on the role of metal ions and their association with the pathogenesis of LSDs. Also, I am interested in investigating and identifying potential biomarkers and thereby developing novel therapies on LSDs. I hope to find valid biomarkers to help evaluate the progress of diseases and drug treatment responses of LSDs patients. It’s an honour to be supported by the Gaucher Association to attend the GRC. I met lab principal investigators, clinicians and PhD students and I heard presentations on the latest data in all aspects of the field. These researchers are working hard to understand the pathogenesis of LSDs and trying to develop useful therapies to help improve the quality of life for patients. Finally, I would like to thank the Association who have supported me at this early point in my career.

Paul Fineran I am dong a DPhil in Pharmacology at the University of Oxford and I attended the GRC and my travel costs were kindly met by the UK Gauchers Association. My research focuses on Niemann-Pick Disease Type C (NPC), a rare LSD affecting around 1 in 150,000. NPC is characterized by progressive neurodegeneration leading to disability and premature death. Those who develop NPC during infancy will usually die within their first few years. My work has focused on how disease develops in NPC organisms. The majority of NPC patients have a mutation in the NPC1 gene, which codes for the production of a protein present in the lysosomal membrane. The function of NPC1 is not certain, but dysfunctional NPC1 leads to a number of changes in the cell. Cells from NPC organisms accumulate a wide range of substances in the lysosome, have problems with cellular trafficking and have reduced levels of lysosomal calcium. The order in which these events occur is contentious – we don’t know which is the primary disease event (occurring as a direct result of NPC1 dysfunction, and whose occurrence leads to other cellular defects). Our aim is to work out the order of events occurring inside the diseased cells/tissues. With a better understanding of the root causes of NPC we hope to be able to develop more effective therapies. Being able to attend the GRC was a fantastic opportunity, and I am grateful to the UK Gauchers Association. This help gave me the chance to engage with cutting edge research into NPC and LSDs. I met others in my field and we exchanged ideas and discussed directions our research could take and may lead to future collaborations. In conclusion, this conference has provided me with an excellent grounding for my work, and I am extremely grateful.