Myrovlytis Trust

Preimplantation Genetic Diagnosis for BHD Syndrome

The Myrovlytis Trust and the Genetic Alliance UK have submitted a joint response to the Human Fertilisation and Embryology Authority following the application to use preimplantation genetic diagnosis (PGD) to avoid pregnancies affected by Birt-Hogg-Dubé. The response can be viewed below:

Birt-Hogg-Dubé Syndrome PGD Support

Research Funding Update

The Myrovlytis Trust is delighted to award a grant extension to Dr Richard Harbottle at Imperial College London, UK. The six month extension will support ongoing work into the development of prophylactic gene therapy for BHD Syndrome using non-viral S-MAR plasmid vectors.

Research Funding Update

The Myrovlytis Trust is delighted to award a grant extension to Dr Ravi Nookala and Professor Tom Blundell at Cambridge University, UK.  The twelve month extension will support a Masters student and a research assistant to continue the structural biological analysis of folliculin.

Second BHD Symposium Highlights

Videos of Dr Laura Schmidt, Dr Berton Zbar, Dr Frank McCormack,  and Joyce Graff presenting at the Second BHD Symposium 2010 are now available to view here.

The Second BHD Symposium was co-sponsored by the Office of Rare Disease Research at NIH and the Myrovlytis Trust, and was held on 22^nd April 2010, at the Washington Marriott at Metro Center Hotel, Washington DC, USA.

The Trust in the spotlight

Some recent activities of the Myrovlytis Trust are published in the winter 2009/2010 newsletter of the Genetics Interest Group, here.

BHD Symposium Abstract Deadline

Register: Second BHD Symposium

Registration is now open for the Second BHD Symposium, to be held in Washington, DC, April 22nd, 2010.

The abstract submission deadline for either a poster or an oral presentation is 15th February 2010, the word limit is 200 words.

This year’s invited guest speak is Dr. Berton Zbar, who has over 20 years experience in the field of renal cancer genetics and the organisers are delighted that he has agreed to address the symposium. Before his retirement, Dr Zbar was chief of the Laboratory of Immunobiology at the Center for Cancer Research, NCI-Frederick, USA, where he and his colleagues have studied families affected with the BHD Syndrome as well as von Hippel-Lindau (VHL) syndrome, hereditary papillary renal carcinoma (HPRC), and Hereditary Leiomyoma and Renal Cell Carcinoma (HLRCC).

BHD diagnosis and management guidelines

The European BHD Consortium has published ‘Birt Hogg Dube Syndrome: Diagnosis and Management‘ guidelines in the Lancet Oncology.

European BHD Consortium Meeting

On 16^th November in London, the European BHD Consortium held its fourth meeting.  Attended by thirty people, the meeting included an excellent presentation by Dr Laura Schmidt.  A report of the meeting is available here.

Second BHD Symposium

On 22nd April 2010, the Second BHD Symposium will be held in Washington DC.  This follows the success of the Inaugural BHD Symposium in September 2008.  Further details will be available here.

Research Grant Award

The Myrovlytis Trust is delighted to have awarded a grant to Maria Czyzyk-Krzeska , Professor at the Genome Research Institute,  University of Cincinnati. The two year grant will fund a post-doc to look at the regulation of FLCN expression by VHL in renal cancer.

Renal Gene Therapy Grant Awards

The Trust is delighted to announce that it is funding three research projects in renal gene therapy:

• Dr Yosef Haviv at Hadassah-Hebrew University Medical Centre, Israel, will take an SV40-based kidney gene therapy approach. Dr Haviv’s project will involve developing an SV40-FLCN vector and looking at its ability in vivo to transduce mouse kidneys and its effect on a BHD mouse model.

• Dr Richard Harbottle at Imperial College London, UK, will use non-viral S-MAR plasmid vectors to develop prophylactic gene therapy for BHD. Dr Harbottle will use a variety of gene transfer methods in in vitro and in vivo model systems.

• A collaboration between Andy Baker and Laura Denby (Glasgow, UK) and David Curiel and Justin Roth (University of Alabama, Birmingham, USA), will develop virus- and cell-based targeting platforms for renal gene therapy. They will identify new ligands with a high affinity for renal tissues, use the ligands to make targeted vehicles for renal gene therapy, then evaluate the delivery efficiency of the vehicles.

The Trust is very pleased have the opportunity to support such excellent scientists and such exciting science.

BHDSyndrome.org Update

Duncan Azzopardi, Charity Officer at the Trust, has recently started writing a blog at www.BHDSyndrome.org. The blog will provide a rolling commentary of BHD research and is also interactive, so that readers can ask questions or provide their thoughts on blog posts.

Research Grant Award

The Myrovlytis Trust is delighted to announce the award of a grant to Dr Vera Krymskaya, Associate Professor at the University of Pennsylvania. The grant, for up to two years, will fund a post-doc to look at the role of FLCN in cell proliferation, cell-cell contact formation and cell-cell interactions.

Cambridge University Summer Placement

The Myrovlytis Trust are funding an 8 week summer placement within Prof Sir Tom Blundell’s lab at Cambridge University. Cat Donaldson will be participating in ongoing research into the crystal structure of Folliculin. This an important step in helping to characterise a role for the protein.

Online Folliculin Mutation Database Established

A new  FLCN mutation database is available. It was created by Derek Lim (Clinical Research Fellow at Birmingham University, UK) with the European BHD Consortium, and is hosted at LOVD. As well as describing published mutations, the database also describes several novel unpublished mutations.

New Member of Staff

Duncan Azzopardi has joined the Myrovlytis Trust, having just finished his PhD on colon cancer at the Institute of Medical Genetics at Cardiff University. Duncan will support the work of the Trust, including developing www.BHDSyndrome.org as the primary global online resource for anyone interested in BHD syndrome.

Positions Available

Two research positions (one PhD student and one postdoc) will soon be available with Dr Maurice van Steensel, Maastricht University, the Netherlands. The positions are for four years, and will involve working on the basic science of BHD, with possibly some translation in the near future. For more details, email Maurice van Steensel: m.van.steensel@mumc.nl

Rare Genetic Disease Pilot Grant Programme

The Myrovlytis Trust and US-based non-profit Partnership for Cures have created the Rare Genetic Disease Pilot Grant Programme.

This programme aims to bring together researchers and funders to try to produce better treatments for patients with rare genetic diseases. The grants can make quick and direct impacts on patients by translating drugs from one disease to provide a “new” treatment in another disease.

The Myrovlytis Trust is providing funding for up to four one-year pilot grants, each of $25,000 USD, that will be offered for projects that can have a direct and significant impact on the BHD patient population within the next 12-24 months.

More information here and here.

Recruitment Opportunity

The Myrovlytis Trust is recruiting a Charity Officer. The successful candidate will work with and support the Charity Manager, to enable the Trust to broaden and deepen its activities. Duties will include:

• Providing administrative support to the Trust;
• Regular website updating including producing some content;
• Maintaining awareness of advances in research into BHD syndrome;
• Assisting with other Myrovlytis Trust matters as required.

More information here.

European BHD Consortium Report

The European BHD Consortium held its third meeting in Paris on 19th December. A report of the meeting, which was attended by a dozen people, is available here.

Research Grant Award

The Myrovlytis Trust is delighted to have awarded a twelve month grant to Professor Maher and Dr Ferenc Mueller at Birmingham University Medical School, UK. This grant will fund preliminary experiments towards creating a zebrafish model of Birt Hogg Dubé syndrome.

Rare Disease UK

The Myrovlytis Trust has joined the recently launched Rare Disease UK – an “alliance of key stakeholders brought together to develop a national plan for rare diseases in the UK”.

BHD Nihon Rat Availability

Some BHD researchers have had difficulty accessing the Nihon Rat (Okimoto et al., PNAS, 2004). The Myrovlytis Trust is delighted to announce that the authors now have permission from the company handling the animals to send them. If you would like access to this animal, please contact Kazuo Okimoto (kazuo-okimoto@ds-pharma.co.jp) directly. If you do not receive a timely response please let the Trust know and we will ensure that the animals are made available to the BHD research community.

Folliculin Antibody Grant Award

The Myrovlytis Trust is funding Dr Arnim Pause, at McGill University, to develop Folliculin antibodies. These will be made freely available to BHD researchers prior to publication. The Trust hopes that making sufficient quantities of high quality antibody freely available, will facilitate BHD research.

Inaugural BHD Symposium Abstracts

The abstracts of the talks and posters presented at the Inaugural BHD Symposium have been published on Pubmed and are now available.

Date For Your Diary

The second planning meeting of the European BHD Consortium was held on the 3rd September in Roskilde, Denmark. The next meeting is planned for December 19th in Paris.

Grant Award

The Myrovlytis Trust is delighted to announce the award of a three year grant to Dr Andy Tee of the Institute of Medical Genetics at Cardiff University. The grant is for 50% of the cost of a PhD studentship to characterise folliculin function from a biochemical perspective.

Scientific Advisory Board Update

Professor Terry Cook FMedSci, FRCPath has agreed to join the Scientific Advisory Board of the Myrovlytis Trust. Terry is Professor of Renal Pathology at Imperial College, London, UK, and Consultant Renal Pathologist to the West London Renal and Transplant Centre, London, UK. Professor Cook advises several organisations, including the Wellcome Trust, the International Society of Nephrology and the Renal Association. The Trust is delighted the Professor Cook has joined the Board.

European BHD Consortium Membership Update

The European BHD Consortium has three new members and one new International Affiliate Member: Dr Lennart Friis-Hansen and Dr Thomas van Overeem Hansen, both of the University of Cophenhagen, Denmark, and Dr Silvana Ungari, head of SS Molecula Biology and Genetics Laboratory, Cuneo, Italy, have become members. Professor Ingrid Winship of the University of Melbourne, Australia, has become an International Affiliate Member.

Symposium Success

The Inaugural BHD Symposium was held in Roskilde, Denmark, on 3rd September. There were 47 attendees. More details to follow, but initial feedback suggests that the Symposium was well received: we hope it has provided an opportunity for BHD researchers to meet and find out about each other’s research as well as stimulating new ideas.

BHD Symposium Programme

The programme for the Inaugural BHD Symposium is now available here.

Myrovlytis Trust Meeting

The Myrovlytis Trust held a two-day meeting on 18th-19th August at the Royal Institution in London. The small, closed meeting was attended by several of the world’s leading renal gene therapists and aimed to identify current barriers to progress in renal gene therapy and how to overcome them.

Scientific Advisory Board Membership Update

Professor Dian Donnai CBE has agreed to join the Scientific Advisory Board of the Myrovlytis Trust. Professor Donnai is Professor of Medical Genetics at the University of Manchester, UK, Clinical Head of Division of St Mary’s Hospital and Consultant in the North West Regional Genetics Service. Professor Donnai has expertise in childhood syndromes involving structural malformations and learning disability. Professor Donnai has been Consultant Adviser in Genetics to the Chief Medical Officer for England, has served on the UK Government Genetics and Insurance Committee, and is President Elect of the European Society for Human Genetics. The Trust is delighted that Professor Donnai has joined the Board.

GIG and OrphaNews Europe

Two recent articles introduce the Trust to a wider audience. The first is in the Genetic Interest Group summer newsletter – the entire newsletter is downloadable from this page . The second is in OrphaNews Europe, the EU Rare Diseases Task Force newsletter.

Scientific Advisory Board Update

Professor Andrew Hopkins D.Phil. FRCS has agreed to join the Scientific Advisory Board of the Myrovlytis Trust. Andrew is Professor of Medicinal Informatics, Biological Chemistry and Drug Discovery Division, at the University of Dundee, and also holds the Scottish Universities Life Science Alliance Chair for Translational Biology. His expertise is in drug discovery having spent several years at Pfizer, most recently as Head of Chemical Genomics, Associate Research Fellow. Professor Hopkins currently consults or advises for several organisations, including the World Health Organisation, OECD, and St Jude Children’s Research Hospital, Memphis, Tennessee. The Trust is delighted that Professor Hopkins has joined the Board.

GIG Membership

The Myrovlytis Trust is now a member of the Genetic Interest Group.

FLCN+/- Mouse Line Availability

Dr Arnim Pause at McGill University has kindly offered to make an unpublished FLCN+/- mouse line available to the BHD research community, for research that does not duplicate work in his lab.

The line was developed using a gene-trap vector inserted into Flcn (RRX115 from Bay Genomics). For more details of the line please contact Dr Pause at arnim.pause@mcgill.ca

If you are interested in obtaining the line, or have any questions, please contact Dr Pause and the Myrovlytis Trust. The Myrovlytis Trust will seriously consider meeting mouse transport and storage costs: please do not be put off requesting the line for financial reasons.

Research Evaluation Procedure

The Research Evaluation Procedure of the Trust is now publicly available. It can be downloaded from the About Us page.

Research Grant Award

The Myrovlytis Trust is delighted to announce that it has awarded a grant to Professor Sir Tom Blundell, Department of Biochemistry, Cambridge University, to carry out a structural biological analysis of folliculin, aiming to study both its architecture and interactions. The grant; is for 16 months in the first instance; will fund a post-doc to carry out experiments building on an initial bioinformatics analysis; will look at folliculin alone and with binding partners.

Report Availability

A report of the first meeting of the Scientific Advisory Board can be downloaded as a PDF from the About Us page.

The Scientific Strategy of the Trust is now publically available. It can be downloaded as a PDF from the About Us page.

Scientific Advisory Board Update

Dr Maurice van Steensel MD PhD has agreed to join the Scientific Advisory Board of the Myrovlytis Trust. Dr van Steensel is a dermatologist at Maastricht University Center for Molecular Dermatology, University Hospital Maastricht, The Netherlands, who works on congenital dermatological disorders. He has described several novel mutations in the gene responsible for BHD syndrome. The Trust is delighted that Dr van Steensel has joined the Board.

Research Grant Award

The Myrovlytis Trust is delighted to announce the award of a two year research grant to Tim Cash, a graduate student in Professor Celeste Simon’s lab at the Abramson Institute, University of Pennsylvania. This grant will support studies into cell signaling pathways in BHD syndrome and the role of folliculin in development, including some mouse work. Grant recipient Tim Cash welcomed the news: “This is wonderful news. This grant will enable me to carry out further experiments to extend my exciting initial findings related to the molecular mechanisms of BHD syndrome.”

Scientific Advisory Board Announcement

The Myrovlytis Trust is delighted to announce the formation of its Scientific Advisory Board. The Board will be comprised, initially, of Eamonn Maher MD FRCP FMedSci, Professor of Medical Genetics at Birmingham University, UK, and Laura Schmidt PhD, staff scientist at the National Cancer Institute-Frederick, NIH, USA. The Board will “advise the Trust regarding its scientific direction and focus”.

Calll For Abstracts

Call for abstracts is now open for the Inaugural BHD Symposium. Please email ‘contact@bhdsyndrome.org’ to register for the meeting and find out how to submit an abstract for poster/oral presentation.

European BHD Consortium

The European BHD Consortium (EBC) website is now live. The EBC aims to promote research into, and treatment of, BHD syndrome.

BHD Symposium Registration

Registration is now open for the Inaugural BHD Symposium, to be held on 3rd September in Roskilde, Denmark. Organised in partnership with BHD Family Alliance, the Symposium is just one day before the 8th International Medical Symposium on VHL. There will be a laboratory research session in the morning and a clinical session in the afternoon, with a keynote presentation and opportunity for a number of short talks in each session. Email contac@bhdsyndrome for registration information.

EBC Meeting

The first planning meeting of the European BHD Consortium (EBC) was held in Amsterdam on 22nd February. The EBC aims to promote research into and treatment of BHD syndrome.

Inaugural BHD Symposium News

The Inaugural BHD Symposium will be held in Roskilde, Denmark, on the 3rd September 2008. Details to follow.

BHDSyndrome.org News

The Myrovlytis Trust has teamed up with the Birt Hogg Dube Family Alliance to develop a comprehensive website about BHD syndrome. Both partners hope that the website will be the first point of reference for anyone interested in BHD syndrome – families, researchers, clinicians etc. The Alliance’s Cathy Sherman welcomed the plans, saying: “The Trust and the Alliance share the goals of promoting knowledge and understanding of the BHD syndrome; I believe that this new website will reflect this and will be a great asset to anyone who is seeking information about Birt Hogg Dube”.

Charity Commission

The Charity Commission has registered the Myrovlytis Trust as a charity with registered number 1122073.

Travel Grants

The Myrovlytis Trust has set up a travel grants scheme. For more details, see the Travel Grants page.

Research Grant Award

The Myrovlytis Trust is delighted to have awarded a three year grant to Professors Maher and Latif at Birmingham University Medical School, UK. It provides three years’ funding for a post-doc and PhD student. Experiments are planned to start in December 2007.

Research Grant Award

The Myrovlytis Trust has provisionally agreed a three year programme grant, with the possibility of extension, with Professors Maher and Latif at Birmingham University Medical School, UK. This will enable in depth functional analysis of folliculin and associated cell signalling pathways, and further study in model organisms.