Month: April 2011

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 … Read more

The Third BHD Symposium is fast approaching in little over two weeks! We have already posted introductions of keynote speakers, and discussion of the sights of Maastricht. Now has come the time to present the Patients and Families Programme. BHD-focussed sessions will be on the 11th; those for HLRCC will take place on the 12th. … Read more

Following on from the blog last week, which described the identification of PBRM1 mutations in clear-cell RCC (ccRCC), other sequencing studies are also finding new genes that are mutated in ccRCC. For example, Dalgliesh et al. (2010) have identified mutations in histone modifying enzymes and DNA repair enzymes. In this study, 3,544 protein-coding genes were … Read more

As mentioned in the blog last week, high-throughput DNA sequencing is helping to identify novel mutations related to a number of different genetic disorders. A recent example of this can be seen in a study by Varela et al. (2011), in which exome sequencing was used to identify truncating mutations in the PBRM1 gene in … Read more

Over the last few weeks we have attended scientific meetings to increase our awareness and knowledge of on-going research relevant to BHD syndrome. Conferences are a great place to meet scientists at the forefront of current research and to hear about on-going projects before they reach publication stage. In early March, the International Symposium on … Read more