FLCN may act as a molecular switch

Chromosome translocations involving the transcription factor TFE3, leading to its overexpression, cause roughly 15% of renal cell carcinomas in patients under 45 years of age (Kuroda et al., 2012). TFE3 is constitutively activated in FLCN-null cells (Hong et al., 2010), indicating that FLCN may regulate TFE3. While investigating the role of TFE3 in lysosome homeostasis … Read more

Rare diseases are fundamental to understanding common diseases

Research has historically concentrated on more common diseases, seeking to benefit the many rather than the few, and as a result rare diseases have often been overlooked. However, a growing body of evidence shows that rare disease research can yield important insight into more common conditions. Additionally, rare diseases are often more extreme and have … Read more

2014 Crick Symposium on Rare Diseases

The Francis Crick Institute is a new multi-disciplinary medical research institute, and is due to open in 2015. It is a consortium of six UK organisations – the Medical Research Council, Cancer Research UK, the Wellcome Trust, University College London (UCL), Imperial College London, and King’s College London. The consortium members have committed to invest … Read more

Cowden Syndrome shares clinical, genetic and biological features with several kidney cancer susceptibility syndromes

Cowden Syndrome is one of several PTEN Hamartoma Tumor Syndromes caused by heterozygous germline mutations in the PTEN gene. Symptoms include learning disability, macrocephaly, skin papules on the face and mucous membranes, intestinal and colonic polyps, uterine fibroids, lipomas, and increased susceptibility to thyroid, breast and endometrial cancers. Two studies, published in 2012 and 2013 … Read more