Novel FLCN mutations in Chinese patients

The gene FLCN is inactivated in individuals with BHD syndrome. The FLCN gene encodes the protein Folliculin, which is a putative tumour suppressor. Over 150 different FLCN mutations have been identified, most of which are likely to be pathogenic (LOVD-hosted FLCN mutation database). The majority of these mutations are frameshift, nonsense, insertion/deletion, or splice site mutations, resulting in truncation and inactivation … Read more

BHD syndrome: a new case report and a review

Birt-Hogg-Dubé syndrome (BHD), also known as Hornstein–Knickenberg syndrome is an inherited disease associated with skin lesions, lung cysts, pneumothorax and kidney cancer. Jensen et al. (2017) present a new case report of BHD and a review of the literature. This is a great opportunity to review the genetics, clinical manifestations, diagnosis, treatment, prognosis and follow-up … Read more

Ammonium regulates mTOR signalling

mTORC1 and mTORC2 are two distinct mammalian TOR (target of rapamycin) complexes that regulate cell growth and metabolism. In cancer, genetic alterations lead to activation of mTOR signalling impacting tumour metabolism. Upregulated glutaminolysis is part of the metabolic reaction occurring in cancer that liberates high levels of ammonium, a toxic waste product. Although the importance … Read more

Shire Rare Disease Summit

In the field of rare diseases one of the key points of progress is to ensure that rare disease patients benefit from advances in medical sciences. To promote this, the global biotechnology company Shire hosted a Rare Disease Summit yesterday in London, which focused on the policy environment for patient access to orphan drugs and … Read more

3rd IRDiRC Conference – Trends in Patient Advocacy

As mentioned in last week’s blog, the 3rd International Rare Disease Research Consortium (IRDiRC) conference was held on the 8-9th February in Paris bringing together international experts in the rare disease field to discuss progress and to set new goals. One of the sessions of the conference focused on global trends in patient advocacy in the rare … Read more

3rd International Rare Disease Research Consortium Conference

The 3rd International Rare Disease Research Consortium (IRDiRC) conference was held last week in Paris. It brought together international experts in the fields of public health, funding agencies, academic research, patient advocacy and health industry to discuss the progress in the rare disease field and to set new goals for the next decade. The conference … Read more

TSC1 expression is affected by VHL alterations and HIF-1α production in clear-cell RCC

VHL genetic alterations do not affect the production of HIF-α in clear-cell renal cell carcinoma (ccRCC). However, their effects on tuberous sclerosis proteins (TSC1/2) and heat shock protein 90 (Hsp90) expression are currently unknown. In a recent study, Damjanovic et al. (2016) evaluated the impact of VHL genetic alterations and HIF-α production on the expression of TSC proteins … Read more

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