Month: June 2011

This month’s lab-profile introduces Dr Richard Harbottle, a Research Fellow at the National Heart and Lung Institute at Imperial College London. Dr Harbottle heads the Gene Therapy research group at Imperial College and is studying gene therapy as a potential treatment for BHD syndrome. Dr Harbottle is a founding member of the British Society for … Read more

In April, a previous blog post summarised the various conferences we had attended, and how the data presented could be applied to BHD research. More recently, we have reviewed the scientific content and the patient and family sessions of the Third BHD Symposium, which this year was held in Maastricht in The Netherlands. In this … Read more

Following the first post reviewing the scientific content of the Third BHD Symposium, here highlights focus on the Patient and Family sessions. Mornings were for joining the researchers and hearing the latest clinical investigations. Patients were pleased to have the chance to attend these talks and found them interesting: “I liked that I heard about … Read more

It is often the case that frequently occurring mutations can indicate the areas of functional importance within a protein. For example in Ras, a GTPase commonly mutated in cancer, most mutations occur around the GTPase domain, which is critical for the protein’s function (Reuter et al., 2000). In FLCN, no such domain has been identified, … Read more