Your Resource for Birt-Hogg-Dubé Syndrome
Birt-Hogg-Dubè can be thought of as a ciliopathy. Ciliopathies are a set of rare diseases resulting from defects in cilia; membrane-protruding organelles that provide either propulsion (motile cilia) or a sensory function (primary cilia) in mammalian cells. Like BHD, cystic lesions in the kidneys are a major manifestation of ciliopathies such as polycystic kidney disease and Bardet-Biedl … Read more
Tuberous sclerosis complex (TSC) is an autosomal dominant disease that causes a range of symptoms. Like BHD, it can cause benign growths in several organs including the lungs, kidney and skin. However, TSC patients can also suffer from neurological problems, including intellectual disability, and it is a leading genetic cause of autism and epilepsy. The … Read more
A haploid human genome comprises of 23 chromosomes, roughly 20,000 genes and is encoded by approximately 3 million base pairs (the building blocks of DNA – A, T, C and G). The full code for life’s blueprint for making a human, was revealed back in 2003 through an international collaboration known as The Human Genome … Read more
It is well known that mutations in the folliculin gene (FLCN) cause BHD syndrome; a disorder that can result in fibrofolliculomas, lung and kidney cysts, pneumothorax and renal cancers. The FLCN protein has long been suspected of acting as a tumour suppressor and has been identified as a modulator of the AMPK-mTOR pathway (Baba et … Read more
Pulmonary cysts are a frequent clinical manifestation of Birt-Hogg-Dubé syndrome and are assumed to be the cause of pneumothorax in BHD patients (Johannesma et al., 2014f). Pneumothorax is when lungs collapse due to air leaking into the pleural cavity and in BHD patients the number of cysts is strongly correlated to the incidence of recurrent … Read more
Tuberous sclerosis (TSC) is an inherited tumour syndrome that shares clinical similarities with Birt-Hogg-Dube Syndrome. It is caused by mutations in TSC1 or TSC2 that lead to aberrant activation of mTOR, affecting multiple organs, including the kidney and lung. In the kidney, lesions such as multiple renal cysts and renal cell carcinoma (RCC) can occur. Tumour reduction in TSC … Read more
Mutations in the FLCN gene are the cause of Birt-Hogg-Dubé (BHD) syndrome, a rare disease characterized by renal cell carcinoma (RCC), pneumothorax and fibrofolliculomas. In their new study, Bartram et al. (2017) identify a heterozygous mutation in the FLCN gene in a patient with RCC. DNA from tumour and a metastasis was analysed and the authors demonstrated skipping of … Read more
Fundraising helps charities to make a difference for rare disease patients by supporting research, community events and awareness campaigns. At the end of April, Findacure hosted a workshop in London with several speakers sharing their experience of fundraising. Libbie Read and Mary Rose Roberts, from Findacure, introduced the fundraising theme and gave a talk about … Read more
Early this year at the ASCO Genitourinary Cancers 2017 meeting, Hurwitz et al. (2017) presented clinical data from a Phase I clinical trial of the oncology agent NKTR-214 in patients with renal cell carcinoma (RCC) showing encouraging evidence of anti-tumour activity, and a favourable safety and tolerability profile. NKTR-214 was developed by Nektar Therapeutics to … Read more
Following last week’s blog about pre-clinical research, this week we introduce the second part of Findacure’s webinar explaining clinical research. The subject of clinical research was presented by Sarah Venugopal from Raremark, a company connecting families affected by rare diseases with information on the latest research and treatments in the field. Clinical research, also known … Read more