Ongoing Projects

Cataloging Expert Centres for VHL

Orphanet ( has been working with the European Commission in Brussels to establish centrally-certified Expert Centres in Europe forrare diseases, such as VHL. In the future, European Funding and Cross-Border Healthcare will only be provided to those hospitals qualifying as an Expert Centre for that disease. The process began in 2014, with each European country having its own timeline. The Academic Hospital wishing to apply as an Expert Center for VHL has to fill in a detailed survey (15-25 pages!) of their Care Path for VHL patients, the multidisciplinary team by name (and their back-up specialist) dedicated to VHL patients (for example, this will have an eye doctor, a brain/CNS surgeon, an endocrinologist/internist, a pediatrician, a clinical geneticist, a Gastro-intestinal onco-surgeon (specialising in pancreatic tumors), etc). The research going on at the applying Expert Center needs to be fully described and shown that money is being obtained for research and that research papers are being published. One of the interesting aspects of this process is that the application from the Expert Center is then sent to the national patient organization if possible for evaluation before the committee further considers granting the status Expertise Center. The Patient Organisations also suggest which Centres they think are suitable for their patients¹ needs. The European Commission has not yet published their evaluation criteria, but it is expected to be a rigorous process with about 50% approval rate for all Centres applying. One project we hope to tackle to generate a list of all the VHL Expert Centres approved by Brussels and presenting them in a comprehensive list for our member VHL affiliates. For more information, see:

It is anticipated that between 1-2 hospitals will qualify per 10 million inhabitants in a given country, although this may vary.

More soon!
Rachel Giles, The Netherlands

International VHL symposium for Young Adults 2015

Date 31 July – 3 August 2015
Place Utrecht, The Netherlands
We are very pleased to announce the International VHL Symposium for Young Adults 2015. This is the first time this event is being organized, by host country The Netherlands. Several important goals are being aimed during this event. First of all we would like to create the opportunity to network and share global experiences with VHL. Important choices need to be made as a young adult and from psychological point of view, sharing experiences is extremely valuable. Another important part of the program is designed to increase age-specific VHL-related knowledge. VHL-affected young adults carry many responsibilities and by providing up to date information, we want to increase participants’ awareness. The program offers a good balance between leisure activities and serious topics, including: VHL Quiz, interactive VHL related lectures, BBQ, Festival ‘De Parade’ Utrecht & Jordaan tour in Amsterdam. Information on subscriptions will be provided ASAP.
Criteria Participants
- 18-27 years
- VHL-affected
- should have sufficient English knowledge to be able to express themselves
- no parents & no partners policy

Any questions or queries?
Hope to meet you in July 2015! ((if you meet the criteria)
Barbara Bezemer, The Netherlands

Educating doctors

If you or someone in your family has a VHL disease, screening and treatment by expert doctors, i.e. team of experts, are crucial. They help find disease at its earliest stage. In von Hippel Lindau disease, early diagnosis increases your chance for successful treatment and better quality of life. Surgery, including minimally invasive and laser surgery in some cases, is the main treatment for VHL-associated problems.

Still in many countries special VHL expertise centers are missing and doctors are lacking the special experience for correct treatment of a VHL patient. We like to play an important role as an intermediator and set up the contacts between experienced and unexperienced doctors to share, train and elevate the knowledge about VHL.

Furthermore, handbooks in many cases are written for patients. But are in many cases to big and missing the medical terminology and specific content the doctors need. One goal is to create such a general document that will serve the needs for educating doctors about VHL.

Karina Villar, Spain
Athina oz Alexandridou, Greece

Genetic Testing

Genetic testing for VHL is normally done only once in a lifetime. However families are more often confronted with it, as relatives-at-risk or children have to be tested as well. Therefore it is crucial to have the genetic testing done in a laboratory which works accurate, reliable and quick. To ensure that these criterias apply to the lab in question, it should be participating in a quality assurance program. In Europe "the European Molecular Genetics Quality Network (EMQN)" is offering such a quality program.

EMQN is a not-for-profit organisation promoting quality in genetic testing by establishing, harmonising and disseminating best practice. They provide accredited (ISO 17043) external quality assessment (EQA) to labs worldwide. EMQN’s EQA schemes are designed to test the whole analytical process of molecular genetics laboratory; the ability to interpret data in the light of clinical information supplied with a referral, and to produce a clear and accurate report.

In order to know which laboratories participated in the annual EQA one had to wait fairly long until it was published on ( Goal of this project is to provide this information faster and more reliable about all participating laboratories, so families can have their genetic testing done in a laboratory which takes part in the EQA.

Gerhard Alsmeier, Germany