In this month’s lab-profile we introduce Professor Maurice van Steensel, a Professor of genetic dermatology at the University Hospital Maastricht. Professor van Steensel leads a research group studying the role of FLCN in BHD syndrome and he is also a founding member of the European BHD Consortium. As a clinician, Professor van Steensel is in an excellent position to understand and connect both the clinical and basic science aspects of BHD syndrome.
Professor van Steensel’s research lab, which includes senior post-doc Dr Barry Coull and PhD students Tijs Claessens, Lieke Gijezen, Monique Luijten and Marigje Vernooij, study the role of FLCN in cellular signalling. Their data suggests that FLCN detects signals from outside the cell, which leads to changes in intracellular signalling pathways. Work is on-going to unravel this signalling function of FLCN and to understand how it is dysregulated in BHD syndrome. The van Steensel lab works closely with Dr Andrew Tee’s lab at Cardiff University, collaborating to produce the publication in Oncogene last year which describes the effect of FLCN loss on HIF signalling (Preston et al., 2010). This paper has been discussed in a previous blog post.
As well as investigating FLCN’s function in the cell, Professor van Steensel’s lab is trying to identify effective therapeutics to treat BHD syndrome. A clinical trial testing topical rapamycin for the treatment of fibrofolliculomas is currently on-going. More information about this can be found on the ClinicalTrials.gov website.
In May, Professor van Steensel chaired the Scientific Organising Committee for the Third BHD Symposium in Maastricht. The 2-day symposium, attended by over 80 scientists and patients from around the world, was a huge success. Reports from the meeting can be found here and here. During the symposium, Professor van Steensel took some time to film a video interview for BHDSyndrome.org. Watch the interview to learn more about the research carried out in the van Steensel lab. The audio-only and transcript files are also available for this interview.
The following publications further highlight the work of Professor van Steensel:
- Preston RS, Philp A, Claessens T, Gijezen L, Dydensborg AB, Dunlop EA, Harper KT, Brinkhuizen T, Menko FH, Davies DM, Land SC, Pause A, Baar K, van Steensel MA, & Tee AR (2011). Absence of the Birt-Hogg-Dubé gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility. Oncogene, 30 (10), 1159-73 PMID: 21057536
- Claessens T, Weppler SA, van Geel M, Creytens D, Vreeburg M, Wouters B, & van Steensel MA (2010). Neuroendocrine carcinoma in a patient with Birt-Hogg-Dubé syndrome. Nature reviews. Urology, 7 (10), 583-7 PMID: 20842188
- Menko FH, van Steensel MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, Nordenskjöld M, Hansen TV, Solly J, Maher ER, & European BHD Consortium (2009). Birt-Hogg-Dubé syndrome: diagnosis and management. The lancet oncology, 10 (12), 1199-206 PMID: 19959076