Month: August 2014

Whilst trying to elucidate the role of FLCN, a number of studies have reported opposing results. FLCN has been shown to both activate and inhibit mTOR signalling, AMPK signalling and RhoA signalling and to both potentiate and abrogate cell-cell adhesion. It is thought that this may be due to cell type or context-specific factors (Hudon … Read more

Biological markers – or biomarkers – are an area of extreme interest in medicine, as they can be used to diagnose illness, predict the likely course of a disease, or to predict patients’ response to a particular intervention. Diagnostic, prognostic, and predictive biomarkers can be any biological material, such as DNA, RNA, proteins or metabolites. … Read more

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare kidney cancer susceptibility syndrome caused by autosomal dominant mutations in the FH gene. The three main symptoms of HLRCC are red skin papules called cutaneous piloleiomyomas; multiple early-onset uterine leiomyomas; and susceptibility to type 2 papillary renal cell carcinoma. Clinical guidelines for HLRCC were the … Read more

It is estimated that between 5 and 8% of kidney cancers are hereditary (Linehan et al., 2010). There are several clues that help clinicians diagnose these cases: patients who present with multifocal and/or bilateral tumours; who have a family history of the disease; or who are younger than the average age of onset are more … Read more

In the UK, a significant amount of medical research funding – an estimated £2.9 billion in 2012/13 – comes from the public purse through taxes and charitable donations, or from the Wellcome Trust, so it is important to see whether the resultant health benefits justify this spending. However, conclusively proving that funding medical research benefits … Read more