Washington DC, USA

Abbey Mayers (President NORD) and Lex van der Heijden

On behalf of our association, Lex van der Heijden annual National Organization for Rare Disorders (NORD) Conference visited Washington DC in the USA. The conference started on September 28 evening and lasted until October 1 to about noon.
By storm in Washington Lex had a night in New York at the airport and could spend the next day to join the conference.
Altogether approx. 250 people present dozens (patients) organizations.

The theme this year was " road map for rare disease research . Especially because we as an association also engaged in genetic research to CMTC Lex wanted this meeting to attend not only to see how such studies be addressed in the USA but also to network (making new contacts and maintain existing contacts).

Many organizations have a variety of presentations. The development of "orphan drugs", these are drugs for people with rare diseases, now appears much better to walk. At the time, the pharmaceutical companies, mainly due to commercial reasons, not interested in developing drugs for relatively small groups of people. This is clearly changing.

NORD works closely with major U.S. agencies like FDA and NIH (National Institute of Health). Within the NIH is a special organization for rare diseases which Steve Groft the Director. Lex has met him twice before (see previous newsletters) and through him access to include NIH.

One of the presentations concerned the NIH and gave an impression of the developments within the NIH and the NIH what actually does.
The NIH controls support many scientific research projects. These projects are implemented by both the Mark O. Hatfield Clinical Research Center in Bethesda, Maryland, USA and within academic research centers in the USA and worldwide.

Patients and their families can search this database: http://clinicaltrials.gov/ to determine where to place studies which patients are recruited or where the short-term plan is to launch a study for which patients seek.
If we find patients who meet the participation criteria then arrangements can be made regarding travel to the research site. In many cases, it is necessary that the local physician (s) contacting / record with the research center in the extent to which the patient is eligible to participate in the study.
Most research to respond directly to questions from the audience.
Many patients and others use the services of Angel Flight America for travel and accommodation ( http://www.angelflightamerica.org/ ).

Biobanks, see CMTC newsletter of July 2006, were also discussed in detail. Within the United States it has been very large amounts of human genetic material is saved, and a lot of research has been done using this material.

At present nearly 7,000 rare diseases identified where many millions of people, not only patients but also their families, are involved. Several times came in discussions now also the psychological consequences of diseases covered. Apparently, more and more people especially a rare disease not only physical but also psychological component. The proposal was made during the next NORD conference here explicit attention to it.

Stem cell therapy is of course also been discussed. Not only was good in a presentation how a stem cell therapy is performed, but it was also indicated that this therapy is not without risks.

The website NORD also greatly expanded and includes a piece of technology that is intended for the members that for us is very interesting. At this moment we have a possibility of debate within our website that can be both public and private (only accessible to members). You can not currently discussions amongst themselves without leaving others watch. You will also need to visit the website itself regularly to see if eg someone commented on a discussion that you have started or in which you participate.
Shown technology offers the opportunity to create a profile to create and include to indicate that you would like to receive an email when a particular conversation a message was posted. Many possibilities were shown which offers excellent opportunities for our members to interact with each other to establish and maintain. Anyone can through his / her profile determine how much information is visible to others.
Lex, in consultation with our Internet service provider to find out to what extent such functionality we can provide to our members. Should this not be possible in the short term or lead to high costs we may still decide to use the services NORD.

More and more countries appear to have any national organizations as representatives of people with rare diseases. So were now represent (st) ers present from Taiwan, Canada and Iceland.

Just as a few years ago Lex kinds Sinterklaas candy which brought tremendous's taste and by those who were present at that time was directly detected with very positive reactions. This very small investment, approx. € 10 you can actually best seen as a kind of marketing activity which aims CMTC better known.

All released presentations are available on our website.