Your Resource for Birt-Hogg-Dubé Syndrome
Last week, the UK Strategy for Rare Diseases was launched by the Department of Health, which sets out targets to improve and standardise care for rare disease patients across the UK. The strategy concentrates on five main areas: empowering patients; identifying and preventing rare diseases; diagnosis and early intervention; coordination of care; and the role … Read more
Health literacy is defined as the ability of an individual to obtain, understand and process health information and services needed to make appropriate health decisions (Institute of Medicine, 2004). Those with poorer health literacy have poorer health, find medication difficult to manage and have greater mortality rates (Berkman et al., 2011). The Information Standard recently … Read more
This week we would like to introduce you to the work of Dr Fred Menko, a consultant clinical geneticist at the Department of Clinical Genetics at VU University Medical Center in Amsterdam, the Netherlands. Dr Menko is also editor-in-chief of the journal Familial Cancer. Dr Menko maintains a registry of Dutch families with suspected BHD … Read more
Birt-Hogg-Dubé (BHD) syndrome is characterised by three symptoms: skin lesions; lung cysts with predisposition to pneumothorax; and kidney cancer. Although it is possible to clinically diagnose BHD based on these symptoms, the only conclusive diagnosis is to find pathogenic mutations in the FLCN gene. As BHD is a rare disease, and at first glance the … Read more
The mTOR signalling pathway acts as a buffer, modulating energy expenditure in response to cellular environment. The mTORC1 complex is activated by the Rag proteins in response to amino acids and Rheb in response to growth factors, and inhibited by AMPK when glucose levels are low. Thus, when nutrient and growth factor availability is high, … Read more