BHD Research Blog

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265 posts · 172,539 views

BHD Research Blog is the official blog of, the primary online resource for anyone interested in Birt-Hogg-Dubé Syndrome, a rare genetic condition linked to benign skin growths, collapsed lung and kidney cancers. In the BHD Research Blog, we focus on analysing current research in BHD and related fields, as well as considering wider issues relating to rare diseases.

Joana Guedes
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  • March 21, 2014
  • 04:00 AM

Rare diseases are fundamental to understanding common diseases

by Joana Guedes in BHD Research Blog

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 … Continue reading →... Read more »

Maxwell PH, Wiesener MS, Chang GW, Clifford SC, Vaux EC, Cockman ME, Wykoff CC, Pugh CW, Maher ER, & Ratcliffe PJ. (1999) The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis. Nature, 399(6733), 271-5. PMID: 10353251  

Morral N, Bertranpetit J, Estivill X, Nunes V, Casals T, Giménez J, Reis A, Varon-Mateeva R, Macek M Jr, & Kalaydjieva L. (1994) The origin of the major cystic fibrosis mutation (delta F508) in European populations. Nature genetics, 7(2), 169-75. PMID: 7920636  

Riordan JR. (2005) Assembly of functional CFTR chloride channels. Annual review of physiology, 701-18. PMID: 15709975  

  • March 14, 2014
  • 06:08 AM

2014 Crick Symposium on Rare Diseases

by Joana Guedes in BHD Research Blog

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 … Continue reading →... Read more »

Bennett LL, & Mohan D. (2013) Gaucher disease and its treatment options. The Annals of pharmacotherapy, 47(9), 1182-93. PMID: 24259734  

Bhatia S, Bengani H, Fish M, Brown A, Divizia MT, de Marco R, Damante G, Grainger R, van Heyningen V, & Kleinjan DA. (2013) Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia. American journal of human genetics, 93(6), 1126-34. PMID: 24290376  

Cirak S, Feng L, Anthony K, Arechavala-Gomeza V, Torelli S, Sewry C, Morgan JE, & Muntoni F. (2012) Restoration of the dystrophin-associated glycoprotein complex after exon skipping therapy in Duchenne muscular dystrophy. Molecular therapy : the journal of the American Society of Gene Therapy, 20(2), 462-7. PMID: 22086232  

  • March 7, 2014
  • 10:00 AM

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

by Joana Guedes in BHD Research Blog

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 … Continue reading →... Read more »

Shuch B, Ricketts CJ, Vocke CD, Komiya T, Middelton LA, Kauffman EC, Merino MJ, Metwalli AR, Dennis P, & Linehan WM. (2013) Germline PTEN mutation Cowden syndrome: an underappreciated form of hereditary kidney cancer. The Journal of urology, 190(6), 1990-8. PMID: 23764071  

  • February 28, 2014
  • 05:00 AM

Rare Disease Day 2014: Join Together for Better Care

by Joana Guedes in BHD Research Blog

Today is the seventh international Rare Disease Day. Co-ordinated by EURORDIS and NORD and celebrated on the last day of February, Rare Disease Day was founded to raise awareness about rare diseases. It has grown in popularity each year, with … Continue reading →... Read more »

Salzburg Global Seminar. (2011) Salzburg statement on shared decision making. BMJ (Clinical research ed.). PMID: 21427038  

  • February 21, 2014
  • 10:30 AM

Pheochromocytomas and paragangliomas may be a rare symptom of HLRCC

by Joana Guedes in BHD Research Blog

HLRCC is a kidney cancer predisposition syndrome characterised by skin lesions, uterine fibroids and papillary renal cancers, and caused by heterozygous inactivating mutations in the FH gene. HLRCC is a very rare disease which affects roughly 300 families worldwide. As … Continue reading →... Read more »

Castro-Vega LJ, Buffet A, De Cubas AA, Cascón A, Menara M, Khalifa E, Amar L, Azriel S, Bourdeau I, Chabre O.... (2014) Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas. Human molecular genetics. PMID: 24334767  

  • February 14, 2014
  • 06:56 AM

FLCN’s roles in RhoA and mTOR signalling may be part of a single, larger signalling pathway

by Joana Guedes in BHD Research Blog

FLCN has been previously reported to regulate both mTOR and RhoA signalling. Although currently considered to be two unrelated functions of FLCN, a recently published study suggest that the two pathways may form one larger signalling pathway. Following the finding … Continue reading →... Read more »

  • February 7, 2014
  • 06:28 AM

How the Saatchi Bill will help rare disease patients

by Joana Guedes in BHD Research Blog

Moved by the feeling that his wife’s ovarian cancer treatment was “medieval, degrading, and ineffective”, and the fact that gynaecological cancer mortality rates have not improved for 40 years, Lord Maurice Saatchi decided to put forward the Medical Innovation Bill. … Continue reading →... Read more »

  • January 31, 2014
  • 10:26 AM

FLCN deficient tumours may be sensitive to radiotherapy

by Joana Guedes in BHD Research Blog

Autophagy is the process through which cells recycle proteins and organelles for energy, and is often dysregulated in kidney cancers. A recent study shows that autophagy is increased in FLCN-null renal carcinoma cells, and that these cells are more sensitive … Continue reading →... Read more »

  • January 24, 2014
  • 05:53 AM

FLCN may control cell-cell adhesion via PKP4 and Rab11a

by Joana Guedes in BHD Research Blog

In 2012, two separate studies reported that FLCN interacts with Plakophilin4 (PKP4) to regulate RhoA signalling and cell-cell adhesion. PKP4, together with Ect2, interacts with RhoA to regulate Rho signalling, contractile ring formation and contraction, and actin reorganisation during cell … Continue reading →... Read more »

  • January 17, 2014
  • 04:00 AM

Heterozygous loss of FLCN may cause cyst development by making alveolar walls more vulnerable to mechanical stress

by Joana Guedes in BHD Research Blog

Lung cysts are a highly penetrant symptom of BHD Syndrome, affecting up to 90% of patients, yet the mechanism of how they develop remains unclear. The histology, appearance and location of lung cysts seem to be disease specific, allowing clinicians … Continue reading →... Read more »

  • January 10, 2014
  • 04:55 AM

Chromosome shattering and metastasis of otherwise benign fibroid cells can cause uterine leiomyomas

by Joana Guedes in BHD Research Blog

Uterine leiomyomas, or fibroids, are benign smooth muscle tumours that grow in the womb. In many cases, uterine fibroids are asymptomatic, although can cause heavy bleeding, lower back pain and complications during pregnancy and labour in some cases. Most women … Continue reading →... Read more »

Mehine M, Kaasinen E, Mäkinen N, Katainen R, Kämpjärvi K, Pitkänen E, Heinonen HR, Bützow R, Kilpivaara O, Kuosmanen A.... (2013) Characterization of uterine leiomyomas by whole-genome sequencing. The New England journal of medicine, 369(1), 43-53. PMID: 23738515  

  • January 3, 2014
  • 04:00 AM

Compound heterozygous and mosaic mutations in kidney cancer predisposition syndromes

by Joana Guedes in BHD Research Blog

While autosomal dominant mutation of causative genes are known to cause the kidney cancer predisposition syndromes HLRCC, TSC, VHL and BHD, a number of studies suggest that compound heterozygous and mosaic mutations of these genes may also contribute to disease. … Continue reading →... Read more »

Hasumi Y, Baba M, Ajima R, Hasumi H, Valera VA, Klein ME, Haines DC, Merino MJ, Hong SB, Yamaguchi TP.... (2009) Homozygous loss of BHD causes early embryonic lethality and kidney tumor development with activation of mTORC1 and mTORC2. Proceedings of the National Academy of Sciences of the United States of America, 106(44), 18722-7. PMID: 19850877  

Kwiatkowski DJ. (2010) Genetics of Tuberous Sclerosis Complex. Tuberous Sclerosis Complex: Genes, Clinical Features and Therapeutics. DOI: 10.1002/9783527630073.ch4  

Lorenzo FR, Yang C, Lanikova L, Butros L, Zhuang Z, & Prchal JT. (2013) Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia. British journal of haematology, 162(6), 851-3. PMID: 23772956  

Pradella LM, Lang M, Kurelac I, Mariani E, Guerra F, Zuntini R, Tallini G, MacKay A, Reis-Filho JS, Seri M.... (2013) Where Birt-Hogg-Dubé meets Cowden syndrome: mirrored genetic defects in two cases of syndromic oncocytic tumours. European journal of human genetics : EJHG, 21(10), 1169-72. PMID: 23386036  

  • December 27, 2013
  • 04:00 AM

BHD Research Blog: 2013 Annual Review

by Joana Guedes in BHD Research Blog

2013 has been a busy year for BHD research, and with 2014 around the corner, it seems a good point to review the studies we’ve particularly enjoyed writing about, and to revisit emerging themes. Early in the year, FLCN’s role … Continue reading →... Read more »

Bastola P, Stratton Y, Kellner E, Mikhaylova O, Yi Y, Sartor MA, Medvedovic M, Biesiada J, Meller J, & Czyzyk-Krzeska MF. (2013) Folliculin contributes to VHL tumor suppressing activity in renal cancer through regulation of autophagy. PloS one, 8(7). PMID: 23922894  

Gharbi H, Fabretti F, Bharill P, Rinschen MM, Brinkkötter S, Frommolt P, Burst V, Schermer B, Benzing T, & Müller RU. (2013) Loss of the Birt-Hogg-Dubé gene product folliculin induces longevity in a hypoxia-inducible factor-dependent manner. Aging cell, 12(4), 593-603. PMID: 23566034  

Luijten MN, Basten SG, Claessens T, Vernooij M, Scott CL, Janssen R, Easton JA, Kamps MA, Vreeburg M, Broers JL.... (2013) Birt-Hogg-Dube syndrome is a novel ciliopathy. Human molecular genetics, 22(21), 4383-97. PMID: 23784378  

Pradella LM, Lang M, Kurelac I, Mariani E, Guerra F, Zuntini R, Tallini G, MacKay A, Reis-Filho JS, Seri M.... (2013) Where Birt-Hogg-Dubé meets Cowden syndrome: mirrored genetic defects in two cases of syndromic oncocytic tumours. European journal of human genetics : EJHG, 21(10), 1169-72. PMID: 23386036  

  • December 20, 2013
  • 05:00 AM

Sunlight exposure may cause skin tumour development in TSC

by Joana Guedes in BHD Research Blog

UV rays in sunlight cause DNA damage and sun exposure is a major risk factor in most skin cancers. A recent study from Harvard suggests that sun exposure may also worsen the number and severity of skin lesions found in … Continue reading →... Read more »

  • December 13, 2013
  • 05:00 AM

Paclitaxel specifically causes apoptosis in FLCN-null tumour cells.

by Joana Guedes in BHD Research Blog

BHD-associated kidney cancers are thought to arise from somatic mutation of the remaining wild type allele of the BHD gene, FLCN, meaning that tumours are genetically distinct from surrounding tissue (Vocke et al., 2005). The phenomenon of synthetic lethality describes the … Continue reading →... Read more »

  • December 6, 2013
  • 04:30 AM

FNIP2 may be required for myelination in the central nervous system

by Joana Guedes in BHD Research Blog

All nerve cells are encased in sheath of myelin, which supports cells and acts as an electrical insulator allowing signals to be transmitted along the length of the axon (Hartline, 2008). Myelination of nerve cells usually starts during foetal development, … Continue reading →... Read more »

  • November 29, 2013
  • 05:49 AM

The UK Strategy for Rare Diseases

by Joana Guedes in BHD Research Blog

Last week, the UK Strategy for Rare Diseases was launched by the Department of Health, which sets out targets to improve and standardise care for rare disease patients across the UK. The strategy concentrates on five main areas: empowering patients; … Continue reading →... Read more »

Salzburg Global Seminar. (2011) Salzburg statement on shared decision making. BMJ (Clinical research ed.). PMID: 21427038  

  • November 22, 2013
  • 06:54 AM

How learning about health literacy helped us design better information for new BHD patients

by Joana Guedes in BHD Research Blog

Health literacy is defined as the ability of an individual to obtain, understand and process health information and services needed to make appropriate health decisions (Institute of Medicine, 2004). Those with poorer health literacy have poorer health, find medication difficult … Continue reading →... Read more »

Berkman ND, Sheridan SL, Donahue KE, Halpern DJ, & Crotty K. (2011) Low health literacy and health outcomes: an updated systematic review. Annals of internal medicine, 155(2), 97-107. PMID: 21768583  

  • November 15, 2013
  • 06:51 AM

Video interview: Dr Fred Menko, VU medical centre, the Netherlands

by Joana Guedes in BHD Research Blog

This week we would like to introduce you to the work of Dr Fred Menko, a consultant clinical geneticist at the Department of Clinical Genetics at VU University Medical Center in Amsterdam, the Netherlands. Dr Menko is also editor-in-chief of … Continue reading →... Read more »

Menko FH, van Steensel MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, Nordenskjöld M, Hansen TV, Solly J, Maher ER.... (2009) Birt-Hogg-Dubé syndrome: diagnosis and management. The lancet oncology, 10(12), 1199-206. PMID: 19959076  

  • November 8, 2013
  • 04:20 AM

BHD and other cystic lung diseases: compare and contrast

by Joana Guedes in BHD Research Blog

Birt-Hogg-Dubé (BHD) syndrome is characterised by three symptoms: skin lesions; lung cysts with predisposition to pneumothorax; and kidney cancer. Although it is possible to clinically diagnose BHD based on these symptoms, the only conclusive diagnosis is to find pathogenic mutations … Continue reading →... Read more »

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