Two weeks ago, more than 100 researchers, clinicians and patients attended the Fifth BHD and Second HLRCC Symposium in Paris, France. The conference was held over two days in the beautiful École du Louvre, which was founded in 1882 to study the collections belonging to the adjacent Musée du Louvre art gallery.
The program included talks from three invited speakers. Professor William G. Kaelin Jr, described mechanisms underlying clear cell renal cell carcinoma; Professor Bernard Escudier talked about targeted therapies currently used to treat metastatic renal cell carcinoma, and discussed some new treatments under development; and Professor Bin Tean Teh presented data comparing HLRCC-related and sporadic type 2 papillary renal cell carcinomas.
On the first day, new functions for the BHD gene, FLCN, and its interacting partners; the genetics and epidemiology of BHD; and basic and clinical research pertaining to the pulmonary symptoms of BHD were presented. Dr Joerg Betschinger from the Cambridge Stem Cell Institute, UK, presented his recent paper concerning the role of FLCN in stem cell pluripotency, while Professor Jorge Toro, from the Veterans Affairs Medical Center, Washington, DC, USA, discussed improved detection rates of FLCN mutations. As mentioned in a previous blog post, Professor Toro also suggested that pooling patient cohorts would lead to better risk predictions for the different symptoms of BHD, including those symptoms whose association has not yet been conclusively proven, such as parotid tumours.
Basic research on BHD and HLRCC were discussed on the second day of the conference, highlights of which include Dr Hakam Gharbi, from the University of Cologne, Germany, speaking about the role of FLCN in controlling longevity in C.elegans, and Dr Suet Ping Wong’s, of Imperial College London, UK, update on her work to develop a gene therapy treatment for BHD syndrome.
Clinical guidelines for HLRCC were the subject of a panel discussion, led by Professor Fred Menko, and including Professor Eamonn Maher, Professor Stéphane Richard, Dr W. Marston Linehan, Dr Laura Schmidt and Graham Lovitt, chairman of the HLRCC Family Alliance. How often to undertake renal surveillance in known FH mutation carriers – the causative gene in HLRCC – and when to perform diagnostic testing of the children of FH mutation carriers was a hot topic of debate. However, there seemed to be a consensus that due to the aggressiveness of the renal cancers found in HLRCC, screening should be performed early and regularly, and conservative surgical techniques should be employed. The resulting guidelines will be published in due course.
The Symposium also included a poster session, and a separate patient and family session, led by Sophie Deveaux, a genetic counsellor at Le Kremlin-Bicètre, France. The conference dinner was held at Le First Restaurant, where Professor Stéphane Richard’s son entertained us with a wonderful rendition of George Gershwin’s “Summertime” on the guitar, with the help of a professional Jazz trio. We would like to thank all of those who participated in the Symposium, not least Professor Stéphane Richard, and the rest of the Scientific Organising Committee, who did a wonderful job in putting together a first-class conference. We hope to see as many of you as possible next year at the 6th BHD Symposium.
- Colledge VL, & Solly J (2012). The rare disease challenge and how to promote a productive rare disease community: case study of Birt-Hogg-Dubé symposia. Orphanet journal of rare diseases, 7 PMID: 22950632
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Do you happen to know when the next symposium is? Where?