As mentioned in our latest newsletter, several new interviews were filmed at the Third BHD Symposium, and have been posted to BHDSyndrome.org.
Dr Derek Lim’s work at the University of Birmingham has been described previously, including his contribution to the Folliculin Mutation Database (Lim et al., 2010) and the UK BHD patient registry. The FLCN mutation database is a comprehensive and up-to-date database of sequence variation in the FLCN gene, which is hosted by LOVD and freely available to all. Within it, you can observe the types and frequencies of different FLCN mutations, as well as a graphical summary of the entire dataset. There are currently 139 unique FLCN mutations listed in the database from both published and unpublished work, and together these mutations could be useful in identifying potential genotype-phenotype correlations.
As part of the UK BHD registry, Dr Lim visits UK-based BHD patients and monitors their symptoms. This could help identify trends among BHD patients and assess the age of onset of certain symptoms, which collectively could be used to refine an appropriate surveillance programme for BHD syndrome.
To learn more about this and Dr Lim’s other work as a Clinical Research Fellow, as well as his career path, views on this year’s Symposium and thoughts regarding the future of BHD research, watch Dr Lim’s video interview, with its associated transcript and audio-only files.
In the coming months, more videos will also be added to BHDSyndrome.org, so do come back soon and let us know what you think!
- 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