Diagnostic and therapeutic applications of genetic research results

This scientific conference series has been organized every second year since 1999, and Hungary has been the host since the beginning. The conference was brought to life by the desire for knowledge. The professionals treating Hungarian patients, led by Henriette Farkas, wanted to learn about the experiences of other professionals but to do this, they would have to travel to many foreign clinics as the number of patients with rare diseases is low at a single location.
On the initiative of Henriette Farkas and Lilian Varga, the decision was made in 1998 that the European professionals dealing with the disease should gather and hold a consultation to define the guidelines for diagnosis and therapy. The first workshop took place in a restful place, the Citadel of King Matthias in Visegrád, Hungary. Later, the event moved to Budapest.

Even at the first workshop, clinicians, researchers, and laboratory specialists were invited, as well as drug developers and patient representatives, some of whom later became the founders of HAEi.

This unique composition continued to be very fruitful later as well because problems related to rare angioedematous diseases occurred from several perspectives, and solving the problems was facilitated by the exchange of views and collaboration of conference attendees from different backgrounds. The scientific breakthrough was soon demonstrated in the development of diagnostic methods; more and more patients were registered, and more regions established specialized centers to treat angioedema patients.

At the workshops held every two years in Budapest, researchers reported newer results about the more precise details of the pathomechanism of the disease, which provided a basis for therapeutic developments to take off. In the 21st century, there is hardly any other rare disease studied in so many clinical trials to develop new and more modern medications with fundamentally different mechanisms of action. It became apparent that the range of angioedemas based on the effect of bradykinin is wider, meaning that besides C1-inhibitor deficient patients, other patients with normal C1-inhibitor levels can also benefit from the developed therapies.

Patient organization representatives have been equivalent, active participants of the workshops from the start. In 1999, some European countries already had patient organizations, which benefitted other regions; in 2001, representatives (Anthony J. Castaldo and Henrik Balle Boysen, among others) arrived from 15 countries. Soon the number of patient organizations and the number of their members increased, and during the regular meetings, the cooperation increased with national organizations. The need to establish an international patient organization also developed.

HAEi was established in 2004 after the 3rd C1-INH Deficiency and Angioedema Workshop held in 2003. At this year’s workshop, the president of HAEi, Anthony J. Castaldo, talked about the role of the workshops in establishing the international organization – he simply called the impact, the workshops held every two years in Budapest, has on people with HAE and other angioedema patients, the ‘Budapest Spirit’. Not only did the number of patients diagnosed and receiving treatment multiply, but the therapy became more modern, and therefore the patients’ quality of life increased significantly.

Primarily the workshop is a scientific forum and the only one in the area of angioedema, of which the program is based on the presentation of new results. This year, the scientific committee accepted 100 abstracts, which were presented by the authors partly orally and partly in poster form. Apart from presenting the primary results, the invited speakers at the conference, Vladimir Leksa, Konrad Bork, and Despina Sanoudou, gave summary presentations on the more and more important areas. This year, the focus was on diagnostic and therapeutic applications of genetic research results. In addition, significant progress has been made in understanding the pathogenesis of hereditary and non-hereditary angioedema diseases and their therapeutic possibilities.

At this year’s conference, there were an outstanding number of presentations on clinical research results; the new developments are very promising. In addition, we could also get to know the recent experiences with the already marketed medicines. The group of angioedema diseases expanded with additional types, so it became necessary to renew the classification of angioedemas, as we could learn about this in Avner Reshef’s presentation.

The conference also provides an opportunity for professionals worldwide to create professional recommendations and conventions directly. At this
year’s conference, the guideline based on the international consensus about the role of genetics in the diagnosis and therapy was updated due to the many types of HAE moderated by Anastasios Germenis. The renewal of the international convention on pregnancy, led by Teresa Caballero, was also discussed. Modern therapy for rare diseases is possible in specialized comprehensive centers. In a separate section, the operation of specific reference and excellence centers and the activities of ACARE, the international network created for the coordinated, interactive cooperation of the centers, was presented by Marcus Maurer.
The workshop is more than a scientific forum. Even though the number of people increased to nearly 400, the atmosphere was still friendly, almost family-like.

The participants who return every two years greeted each other warmly, as they were happy to meet again in person. Many of them were in contact during the intervening period. The new participants easily and gladly integrated into this intimate community.

HAEi receives the ‘for HAE Patients’ award

The tradition that, since 2003, one person is selected at the workshops based on the vote of the 19-member Scientific Committee representing the community, receives the ‘for HAE Patients’ award is also a unifying force. This year, in addition to Anete S. Grumach, Sarah Smith Foltz, one of the founding members of the HAEi, also received the certificate and the trophy, the ‘Gömböc’ artifact, on behalf of HAEi as a recognition of the organization’s work. The celebrants personally cut and offered the conference participants the celebratory cakes, one of which was decorated with the photo of award winner Anete S. Grumach and the other with the HAEi logo.

At the end of the conference, four authors under age 35 received the ‘Grant for Young Investigator’ certificate and the accompanying monetary reward, whose work was deemed best by the jury led by Stephen Betschel.

>> See the program and abstract book of the C1-INH Deficiency and Angioedema Workshop