BHD Research

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

Birt-Hogg-Dubé (BHD) syndrome is caused by mutations of the folliculin (FLCN) gene. FLCN is a tumour-suppressor protein which associates with two homologous proteins, folliculin-interacting protein (FNIP)1 and FNIP2. Previous studies have reported that the FLCN/FNIP complex acts as a positive regulator of the AMP-activated protein kinase (AMPK) complex (Hasumi et al., 2015), while other studies … Read more

The intracellular amino acid pool within the lysosome has been shown to activate the mTORC1 signaling pathway (Zoncu et al., 2011; Jewell et al., 2013). However, how the sequester of the signaling molecules within the lysosome occurs remains poorly understood. New research from Wu et al. (2016) shows that the suppression of FLCN, a tumour … Read more

Dong et al., (2016) have recently reported two BHD syndrome patients also affected with papillary thyroid cancer. Lesions were bilateral and multifocal and small lymph node metastases occurred. Due to the small number of patients in the study the authors are unsure whether thyroid cancer in BHD patients is susceptible to exhibiting bilaterally and lymph … Read more

Patient data is extremely valuable for biomedical and healthcare research. Collecting and sharing patient data globally can lead to several benefits such as better understanding diseases, identifying patterns in public health and disease, developing and monotoring drugs and treatments, allowing researchers to build on the work of others efficiently and finding suitable candidates to take … Read more

Dynamic positioning of lysosomes in the cytoplasm plays an important role in their function and is, in part, regulated by cellular nutrient status. The FLCN/FNIP complex is known to be active on the lysosome surface, where it interacts with Rag GTPases, supports the nutrient‐dependent recruitment and activation of mTORC1, and regulates the localisation of lysosome … Read more

The majority of BHD patients develop pulmonary cysts and approximately 1 in 3 will suffer a pneumothorax. Although BHD pulmonary cysts have defining characteristics compared to other cystic lung diseases (as discussed in recent reviews), the underlying pathogenesis is not yet clearly understood. A recent review from Kennedy, Khabibullin & Henske (2016) summarises the current … Read more

International Rare Disease Day is celebrated on the last day of February to raise awareness of rare diseases amongst the general public, researchers, healthcare professionals and policymakers. Now in its ninth year Rare Disease Day is celebrated in over 80 different countries with events in hundreds of cities. The theme for Rare Disease Day 2016 … Read more

Renal cell carcinomas (RCCs) can be life-threatening and although mostly sporadic, approximately 5% are associated with genetic conditions such as BHD. Early identification of families carrying cancer-predisposing mutations enables access to regular screening and earlier treatment. However, it can be difficult to distinguish between sporadic and inherited RCC based on standard immunohistological analysis. New research … Read more

Hepatocellular carcinomas (HCCs) are the third leading cause of cancer deaths globally; frequently diagnosed only in the advanced stages and aggressive in nature. Although enhanced mTOR activity has a key role in HCC tumourigenesis, the EVOLVE-1 clinical trial of mTOR inhibitor everolimus found no associated improvement in overall survival (Zhu et al., 2014). However, everolimus … Read more