The Lab-profile is a new feature of the blog which will highlight the work of a leading BHD research group, as well as introducing the scientists involved and suggesting additional sources of information.

In this post we are highlighting the work of Professor Eamonn Maher and his group at the Centre for Rare Diseases and Personalised Medicine at the University of Birmingham. In addition to researching other syndromes such as VHL, the Maher lab also conducts research into BHD syndrome, where their work focuses on understanding the molecular mechanisms underlying this genetic disorder.

In particular, Clinical Research Fellow Dr Derek Lim is documenting all the mutations currently observed in the Folliculin gene and curating the FLCN Mutation Database, which is hosted by LOVD and freely available to all (Lim et al., 2010). The impact of these mutations is also being assessed by the laboratory; for instance, PhD student Mike Nahorski is exploring a possible link between BHD syndrome and colorectal cancer (Nahorski et al., 2010).

Additionally, the post-doctoral scientist Dr Xiaohong Lu is investigating novel ways to treat BHD syndrome, with the eventual aim of conducting clinical trials into potential new therapies. For example, her work involving mithramycin as a potential therapeutic drug for BHD-related kidney cancers provides the basis for further clinical study (Lu et al., 2011), as discussed in a previous blog.

Professor Maher and his colleagues also provide a UK-wide service for advice on the genetic testing and clinical management of BHD syndrome, as well as developing and maintaining a UK BHD patient registry.

To hear more about their BHD research and future plans, see our new video and written interview with Professor Maher (the former also being available as a transcript and audio-only file). Alternatively, come join us at the Third BHD Symposium in Maastricht on 11th-12th May 2011 and hear about their most recent work first-hand.

Moreover, the following publications may also be of interest, as they give a flavour of the current BHD research being undertaken by this group:

• Lu, X., Wei, W., Fenton, J., Nahorski, M., Rabai, E., Reiman, A., Seabra, L., Nagy, Z., Latif, F., & Maher, E. (2011). Therapeutic Targeting the Loss of the Birt-Hogg-Dube Suppressor Gene Molecular Cancer Therapeutics, 10 (1), 80-89 DOI: 10.1158/1535-7163.MCT-10-0628

• Maher, E. (2011). Genetics of Familial Renal Cancers Nephron Experimental Nephrology, 118 (1) DOI: 10.1159/000320892

• Nahorski, M., Lim, D., Martin, L., Gille, J., McKay, K., Rehal, P., Ploeger, H., van Steensel, M., Tomlinson, I., Latif, F., Menko, F., & Maher, E. (2010). Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer Journal of Medical Genetics, 47 (6), 385-390 DOI: 10.1136/jmg.2009.073304

• Lim, D., Rehal, P., Nahorski, M., Macdonald, F., Claessens, T., Van Geel, M., Gijezen, L., Gille, J., Giraud, S., Richard, S., van Steensel, M., Menko, F., & Maher, E. (2010). A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene
  Human Mutation, 31 (1) DOI: 10.1002/humu.21130

• Woodward, E., Ricketts, C., Killick, P., Gad, S., Morris, M., Kavalier, F., Hodgson, S., Giraud, S., Bressac-de Paillerets, B., Chapman, C., Escudier, B., Latif, F., Richard, S., & Maher, E. (2008). Familial Non-VHL Clear Cell (Conventional) Renal Cell Carcinoma: Clinical Features, Segregation Analysis, and Mutation Analysis of FLCN Clinical Cancer Research, 14 (18), 5925-5930 DOI: 10.1158/1078-0432.CCR-08-0608