Inaugural BHD Symposium 2008

The first Birt-Hogg-Dubé Symposium was held in Roskilde, Denmark, on September 3, 2008.


Attendees of the first international symposium on BHD Syndrome, courtesy of the VHL Family Alliance. More images can be found here.

Roskilde is located on a beautiful fjord approximately one hour west of Copenhagen and is accessible by public transportation, rental car or taxi. It is a city with a rich cultural history that goes back to 998; it was the original capitol of the country. Vikings sailed the fjord and the Viking Ship Museum houses five original Viking ships. Roskilde Cathedral is a UNESCO World Heritage site and the burial place of Danish royalty. The city has many walking streets with shops and boutiques.

The BHD Family Alliance and the Myrovlytis Trust helped to organize the Symposium.


Symposium Agenda

Morning: Molecular

09:35: Registration, 5 min intro

09:40 – 10:55: 5 * 15 min presentations (Chair – Laura Schmidt):

  • 09:40: Inactivation of the BHD gene in mice results in early embryonic lethality: the expression pattern and role of BHD in mouse embryo development. Speaker – Yukiko Hasumi.
  • 09:55: Role of the Birt-Hogg-Dubé Tumor Suppressor in Embryonic Development. Speaker – Tim Cash
  • 10:10: Functional Characterization of the BHD Tumor Suppressor Protein. Speaker – Arnim Pause
  • 10:25: FNIP1 inactivation in vivo leads to B-cell developmental defects: phenotypic analysis of a FNIP1 knockout mouse model. Speaker – Masaya Baba
  • 10:40: Identification and characterization of a novel folliculin-interacting protein FNIP2. Speaker – Hisashi Hasumi

10:55-11:25: Coffee

11:25 – 12:00: Keynote presentation – Dr Laura Schmidt. (Chair – Jorge Toro)

12:00 – 12:45: 3 * 15 min presentations (Chair – Jorge Toro)

  • 12:00: Interaction of folliculin (Birt-Hogg-Dubé gene product) with a novel Fnip1-Like (FnipL) protein. Speaker – Yumiko Takagi
  • 12:15: Restoration of FLCN suppresses tumorigenic potential of a BHD patient-derived renal cancer cell line: Identification of the genes and signaling pathways affected by FLCN expression. Speaker – Laura Schmidt
  • 12:30: Folliculin-dependent regulation of HIF2-alpha . Speaker – Maurice van Steensel

12:45-14:10: Lunch and posters

Afternoon: Clinical

14:10-14:45: Keynote presentation – Dr Marston Linehan (Chair – Maurice van Steensel)

14:45 – 15:45: 4 * 15 min presentations (Chair – Maurice van Steensel)

  • 14:45: Mutation analysis of the Birt-Hogg-Dubé gene in patients with multiple lung cysts. Speaker – Makiko Kunogi
  • 15:00: Analysis of the BHD gene in a series of European patients suspected of Birt-Hogg-Dubé syndrome. Speaker – Sophie Giraud
  • 15:15: Dermatologic Investigations of Birt-Hogg-Dubé Syndrome at the National Cancer Institute. Speaker – Jorge Toro
  • 15:30: High-Resolution CT findings of the chest in 12 patients of Birt-Hogg-Dubé syndrome. Speaker – Kazunori Tobino

15:45 – 16:15: Coffee

16:15-17:30: Patient Data and Treatment (Chair – Fred Menko):

  • 16:15: European BHD Consortium patient data. Speaker – Eamonn Maher
  • 16:30: Provisional Diagnostic Criteria, Genetic Testing and Recommendations for Screening and Surveillance Patients with Birt-Hogg-Dubé Syndrome. Speaker – Jorge Toro
  • 16:45: Panel discussion – treatment, future etc.

17:30: Finish

Abstracts from the Inaugural BHD Symposium, Roskilde, Denmark, 2008 can be found here.

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