Your Resource for Birt-Hogg-Dubé Syndrome
A major challenge in developing effective cancer therapies is targeting the tumour cells without harming the surrounding healthy tissue. A technique often used to identify such drugs is synthetic lethality. The basis of this technique is that the inhibition of a protein in a cell with an existing mutation leads to cell death, whereas inhibition … Read more
In 1985, Starink et al. described patients with hereditary multiple trichodiscomas, a skin condition which was proposed to be distinct from Birt-Hogg-Dubé syndrome. However, trichodiscomas are firm, skin-coloured flat or dome-shaped papules, and their similarity to fibrofolliculomas has meant that this condition has not been widely recognised as a separate entity from BHD. Consequently, a … Read more
As mentioned in last week’s blog post, many more videos have been uploaded on to BHDSyndrome.org, and this week we would like to highlight our interview with Dr Ferenc Müller, a senior lecturer in Genetics at the University of Birmingham in the United Kingdom. The Müller laboratory mainly studies transcriptional regulation in zebrafish (Danio rerio), … Read more
There have been a few changes to BHDSyndrome.org in the past few weeks. Firstly, the Information Pamphlets are now available for download. Thank you very much to all who participated in the pamphlet survey. Many supportive responses were received from families, doctors, genetic counsellors and friends of people with BHD, showing the need for a … Read more