At the end of March, more than 90 BHD researchers, clinicians and patients attended the Fourth BHD Symposium, which was held in Cincinnati, Ohio, USA. The Symposium was the largest BHD meeting to date and it was a huge success. Talks were held in the impressive Vontz Center at the University of Cincinnati, which was an excellent location for the meeting. Representatives from the VHL Family Alliance, the LAM Foundation and the TS Alliance were also present, bringing together related rare disease organisations.
Highlights included invited talks from Dr Marston Linehan of the National Cancer Institute at the NIH, who spoke about the treatment of BHD kidney cancer and recommendations for screening, and Professor Kuniaki Seyama of Juntendo University, Japan, who discussed pulmonary manifestations of BHD. Other invited talks were given by Professor George Thomas of the University of Cincinnati, Professor Arnim Pause of McGill University and Professor Dr Maurice van Steensel of the University Hospital Maastricht.
Several clinicians took part in an open panel discussion, where screening recommendations and surveillance of BHD patients was further discussed. All clinicians agreed that kidney screening should begin around 21 years of age, but the frequency of MRI surveillance varied in different countries from every 1- 3 years.
Another interesting talk was given by Dr Fred Menko of the VU Medical Center in Amsterdam, who described FMDF, a disease with similar skin symptoms to BHD. A paper describing FMDF, summarised in a previous blog post, found that FLCN mutations were not associated with this disease. It is hoped that FMDF can provide insight into the skin symptoms of BHD.
Basic science highlights included an update on the gene therapy work given by Dr Suet-Ping Wong of Imperial College London, and the description of a zebrafish model of BHD presented by Dr Emma Kenyon of the University of Birmingham, UK. Scientists took part in an interactive session where experience and advice was shared regarding lab experiments and reagents. Out of this discussion, we are now planning an update to our Resources Forum.
The Symposium also included a dinner at the Verdin Bell Event Center, a poster session and a separate patient and family meeting. Highlights of this patient meeting will be available soon in a separate blog post. Finally, we would like to say a big thank you to all those who participated in the Symposium and contributed to its success, in particular Professor Maria Czyzyk-Krzeska who did an excellent job as the chair of the Scientific Organising Committee. We hope to see you all again next year!
www.bhdsyndrome.org – the primary online resource for anyone interested in BHD Syndrome.