Month: June 2015

Genetic sequencing is increasing diagnosis of pre-existing conditions, identifying which diseases a patient is at risk of developing, and which treatments they will best respond to. As the cost of genetic sequencing falls its use in clinical, research and private testing will continue to increase. Whilst we know that variation is a natural feature of … Read more

Rare diseases have become a more interesting target to the pharmaceutical industry as a result of incentives offered by the USA Orphan Drug Act (1983) and EU/141/2000 legislation, the increasing development costs and failure rate of common disease drugs, and the potential for rare disease drugs to influence common disease treatment. It is predicted that … Read more

Hypoxia regulation ensures cell survival and growth in low oxygen environments. HIF signalling is a well-established element of this regulation but is also associated with tumourigenesis in BHD, VHL, HLRCC, TSC, and sporadic cancers. New research from Lee et al., (2015) has identified a second, HIF-independent, hypoxia response which can modify cell survival and growth … Read more

Patients with VHL develop a range of hypervascular tumours including renal cell carcinoma (RCC), retinal and central nervous system hemangioblastomas (HB). The loss of VHL protein (pVHL) reduces HIF protein degradation increasing HIF-1α and HIF-2α signalling and the expression of target genes involved in angiogenesis, erythropoiesis, metabolism and cell proliferation. Increased HIF signalling has also … Read more