A Meeting of the Minds Dr. Ahad A. Rahim

Unfortunately, it is a familiar story to those of us who study rare genetic disorders – lack of funding.  Neuronopathic Gaucher disease is also a victim of this dire situation. For those few who are fortunate enough to have the resources to study this disease, it is often a lonely and secluded existence. We are scattered in hospitals and laboratories around the world doing the best that we can with finite resources and limited budgets. When faced with these hurdles, communication between us is critical in terms of sharing ideas, data, expertise, establishing collaborations and avoiding wasteful repetition. Although the world is becoming smaller in terms of our ability to communicate, nothing quite equals the experience of a good face-to-face discussion.
From around the world, experts on the brain meet in Atlanta Georgia

It was for exactly this reason that I was so pleased to be invited to attend a meeting organized by the Children’s Gaucher Research Fund in Atlanta, May 2012. Under the Chairmanship of Professors Tony Futerman (Weizmann Institute, Israel) and Raphael Schiffmann (Baylor Institute, USA), experts in the fields of Neuronopathic Gaucher disease and other closely related neurological diseases were asked to attend. Furthermore, representatives from industry were also present. The format was unconventional in that this was not typical of a conference. Rather, it had the feel of an informal lab meeting with all present sitting around a single table. It reminded me of the old Arthurian Legends in which all Knights of the realm sat as equals with the King within Camelot. In a similar fashion, everyone from Professors down to PhD students were free to speak, criticize, encourage and present their views and data. The discussions were open, frank and to the point. I found it both refreshing and enlightening.

A broad variety of subjects were raised by attendees including: gene therapy (Dr Ahad Rahim, University College London, UK), other alternative therapies (Dr Seng Cheng, Genzyme, USA), disease pathophysiology in mouse models (Dr Einat Vitner and Ms Tamar Farfel-Becker, Weizmann Institute, Israel), biochemistry and cell biology (Dr Greg Grabowski), clinical perspectives (Dr Raphael Schiffmann, Baylor Institute, USA and Dr Ashok Vellodi, Great Ormond Street Hospital, UK), the link between genotype and phenotype (Dr Andres Klein, Weizmann Institute, Israel).

Three distinct presentations were also given on the association between Gaucher disease and Parkinson’s disease (Dr Ellen Sidransky, NIH, USA, Dr John Hardy, University College London, UK and Dr Dimitri Krainc, Harvard Medical School, USA). The link between these diseases is attracting significant attention from research groups around the world. Research into Parkinson’s disease is significantly better funded than Gaucher disease. It benefits from having a higher profile due to its more significant impact on global health in an ageing population. By association alone, this is likely to raise awareness of Gaucher disease.

Another useful feature of the meeting was the presence of experts in diseases similar to neuronopathic Gaucher disease. These included: Professor Alessandra d’Azzo (St. Jude Children’s Hospital, USA), Professor Volkmar Gieselmann (University of Bonn, Germany), Professor Marc Patterson (Mayo Clinic, USA), Dr Konstantin Dobrenis (Albert Einstein College of Medicine, USA), Professor Daniel Ory (Washington University School of Medicine, USA), Dr Morris Benveniste (Morehouse School of Medicine, USA) and Dr Emyr Lloyd-Evans (Cardiff University, UK). They provided invaluable input and highlighted both similarities and differences between the neurological diseases they work on and Gaucher disease. It is often very easy to become very ‘Gaucher-centric’ and insular so objective points-of-view are welcome and we can draw from each other’s pools of knowledge.

This was an excellent meeting and I came back to the UK more informed, with new ideas and contacts that will hopefully form fruitful collaborations. What was clear to me is that significant advancements are being made in our understanding of this terrible disease. This, in turn, will help scientists, like myself, design and target novel therapies that will have a tangible impact on the lives of patients. The presence of representatives from industry is vital in making such a therapy scalable and realistic from a production and economic point of view. The clinicians amongst us have the vital role of translating any therapeutic advancement from the bench to the clinic. Therefore, all the players required in this sequence of events were present in Atlanta and this does not happen often.

I sincerely hope that the CGRF will organize future meetings because this one was very useful.

Dr. Ahad A. Rahim
Gene Transfer Technology Group
Institute for Women’s Health
University College London
London, UK