Recent reports on BHD and skin symptoms – misdiagnosis and new manifestations

Patients with Birt-Hogg-Dubé (BHD) syndrome usually develop benign hair follicle tumours (BHFTs) which appear as multiple whitish papules developing primarily on the face, neck and torso (Menko et al., 2009). BHFTs such as fibrofolliculomas and trichodiscomas (skin-coloured tumours occurring on the upper body) can be associated with various genetic conditions and their histology is often key to … Read more

Update on clinical trials and treatments for RCC

Renal cell carcinoma (RCC) is the most common type of kidney cancer and although the majority of cases are sporadic approximately 3% of cases are caused by genetic conditions such as BHD, VHL, HLRCC and TSC (Randall et al., 2014). These inherited forms of RCC have provided great insights into sporadic cancer genetics. BHD patients can develop multiple kidney tumours.  In … Read more

FNIP1 and FNIP2 inhibit Hsp90 chaperone cycle and enhance drug binding

Heat shock protein-90 (Hsp90) is a molecular chaperone required for folding, stability and activity of many proteins, known as clients, including drivers of tumour initiation, progression and metastasis (Rohl et al. 2013). ATPase binding and hydrolysis is essential for the chaperone function of Hsp90. ATPase function is regulated by other proteins known as co-chaperones. In … Read more

Findacure workshop: “How rare disease patient groups can work with researchers”

Although collectively, rare diseases affect an estimated 6 to 8 per cent of the EU population (EURORDIS), the low prevalence of individual rare diseases means they have historically received little attention from government or industry research funders (Forman et al., 2012; Litterman et al., 2014). In the absence of these resources, support from rare disease … Read more