Telomere shortening may cause genetic anticipation in VHL syndrome

Genetic anticipation describes the situation where younger generations of a family with a genetic disease develop symptoms at a younger age, develop more severe symptoms, or both. A study earlier this year showed that there is evidence of genetic anticipation in the genetic kidney cancer syndrome Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) (Wong et … Read more

Air travel may cause pneumothorax in BHD patients

One concern many BHD patients have is whether it is safe to take commercial flights, or whether this would increase the chances of a pneumothorax. A recently published study, by Professor Pieter Postmus and his team at the VU Medical Center in the Netherlands, sheds some light on this issue. Postmus et al. (2014) describe … Read more

Survivorship is an increasingly important component of cancer care

A cancer survivor is defined as anyone who is living with cancer, or whose cancer has gone into remission. Traditionally cancer care has concentrated on diagnosing and treating the disease, and comparatively little support has been given to patients once their disease has been cured. Survivorship care plans include educating patients about the potential long-term … Read more

FLCN modulates autophagy via its interactions with GABARAP and ULK1

A number of studies have suggested that FLCN regulates autophagy, although precisely how was unknown. A recent study by Dr Elaine Dunlop and Dr Andy Tee from Cardiff University report that FLCN regulates autophagy through interactions with GABARAP and ULK1. Dunlop et al. (2014) first analysed whether autophagy was dysregulated in FLCN-deficient HK2 and MEF … Read more