First International South Caucasian Conference for Rare Diseases & Orphan Drugs
Two pioneering rare disease conferences in Armenia and Georgia
“These conferences are the result of years of work of a few dedicated health professionals and patient advocates. They are clear signs that the rare disease community is mobilising to include rare diseases in the health policy agenda, even in these remote parts of Europe where other health priorities are overwhelming,” says EURORDIS’ CEO, Yann Le Cam.
The First International Conference on Rare Diseases and Orphan Drugs took place in Yerevan, Armenia on October 7-8. A month before, another International Conference on Rare Diseases had taken place on Sept 10-11 in Tbilisi, Georgia. The main aim of these meetings was to draw the attention of the medical, scientific, academic communities and government authorities to the field of rare diseases in these countries, and to help develop international and regional collaborations between researchers, doctors, patient organisations and the pharmaceutical industry.
The Georgian conference was organised by the Georgian Foundation for Genetic and Rare Diseases (GeRaD) and the Tbilisi State Medical University under the auspices of the First Lady of Georgia, Mrs Sandra Elisabeth Roelofs and her Charitable-Humanitarian Foundation SOCO. The Conference covered the following diseases: Osteogenesis Imperfecta, Cornelia de Lange syndrome, Shwachman Diamond syndrome, Epidermolysis bullosa, Phenylketonuria, Prader-Willi syndrome, beta-Thalassemia, Sjogren's syndrome and Cystic fibrosis. It attracted international speakers from neighbouring Armenia, Bulgaria, Poland and Russia, and further afield from Canada, Germany and the Netherlands.
The Armenian event was organised by the Armenian Association for NeuroHereditary Diseases and co-organised by EURORDIS, under the auspices of the Centre of Medical Genetics of the Yerevan State Medical University. EURORDIS’ CEO Yann Le Cam was co-Chairman of the Conference and member of the Organising Committee. He presented an overview of rare diseases as public health issue in European policy. Successful experiences of rare disease patient mobilisation in neighbouring countries were presented by Dorica Dan, President of the Romanian National Alliance for Rare Diseases, Tamar Chigladze, President of the Georgian Foundation for Genetic and Rare Diseases (GeRaD) and Svetlana Karimova, head of Genetics, the Russian Information centre on rare diseases and orphan drugs. Prof Josep Torrent i Farnell, past-Chair of the COMP, presented an overview of the EU Orphan Drug regulation, its ten years of achievements, its benefits and challenges for patients in South Caucasia.
Scientific presentations focused on rare diseases such as MPS, rare inherited metabolic disorders, muscular dystrophy, mitochondrial diseases and phenylketonuria. Discussions focused on neo-natal screening, improving access to earlier and more reliable diagnosis, support for specialised centres in order to provide genetic counselling, care and access to medicines.
A special session co-organised by the International Prader-Willi Syndrome Association (IPWSO) was devoted to Prader-Willi syndrome featuring IPWSO‘s activities and several scientific presentations on the state of the art for diagnosis and care of this disorder, as well as their experience in Armenia. A Prader Willi syndrome patient group will be established in Armenia following this conference.
In total, over twenty leading experts from 15 European countries and the USA participated in the meeting: scientists, doctors, public health officials and representatives of patient organisations from the EU, USA, Armenia, Georgia, and Russia.
The conference took place mainly through the efforts of Professor Albert Matevosyan MD, PhD, a dedicated physician and a familiar figure at EURORDIS, representing Armenia at EURORDIS’ Membership Meetings, European Rare Disease Conferences, Summer Schools and DIA Patient Fellowship Programmes for the last 8 years. Professor Matevosyan is the Head of the Republic’s Centre of Medical Genetics at the Yerevan State Medical University. The Centre includes the national laboratory of genetic diagnostics and clinical activities covering neuromuscular diseases and metabolic diseases, amongst others. He is also the President of the Armenian Association for NeuroHereditary Diseases, which he founded to increase the awareness of rare diseases amongst health care providers in Armenia, and to include rare diseases in the training program of medical students. In the last decade, the association has organised scientific conferences and training sessions on rare diseases for doctors. It has also promoted the inclusion of screening methods for phenylketonuria and hypothyroidism in the national plan for newborn screening. To organise this conference, Prof Matevosyan mobilised his students and colleagues from the university hospital as well as friends from other hospitals and clinics.
“Great advances in the sphere of rare diseases in Armenia have been made possible due to collaboration and support from international partners like EURORDIS,” explains Prof Matevosyan. “In recent years we’ve been increasingly in contact with other actors in Europe. These encounters have helped break the isolation of health professionals and patient groups in this part of the world.”
The conference in Yerevan was also important because it brought the few existing concerned patient groups together (muscular dystrophy, haemophilia, cystic fibrosis and PWS): a core group which is planning to form an Armenian National Alliance of Rare Diseases.
“This conference is a starting point. It laid the foundations for future regional collaboration between Armenia, Georgia and possibly Azerbaijan, three countries that have cultural links and similar problems, as well as opportunities for addressing challenges in the field of rare diseases, despite the economic difficulties and the diplomatic tensions between the states. These collaborations are being developed in the framework of the EU policy on rare diseases and the growing dynamic of national strategies, while being inclusive of advocates and experts from other countries in Eastern Europe, such as Romania, Bulgaria and Russia, that share commonalities and can share their respective experiences” explains Yann Le Cam. “Even though these countries have many other health priorities to address, some activists are working hard to put rare diseases on the map at the far end of Europe!” He adds “in Yerevan, Armenia, we agreed that the 2nd International South Caucasia Conference on Rare Diseases & Orphan Drugs will be held in 2011 in Tbilissi, Georgia. The conference will rotate every year between the different countries in the region”.
One of the organizers of the future conference, Executive Director of GeRaD, Dr Oleg Kvlividze said: “We would be very happy to welcome to Tbilisi people working in the field of rare diseases all over the world – representatives of patient-based organizations, health policymakers, medical doctors, researchers, representatives of international donor organisations and pharmaceutical companies. Their participation will enable us to adopt best practices in rare diseases and will be very helpful for the rare disease communities of South Caucasus countries. For our part, we will try our best to make their stay in our hospitable country full of most positive impressions.”
Author: Paloma Tejada
Photo credits: © Neurohereditary Diseases Charity Association; Yerevan © http://lauragraceiselsewhere.blogspot.com ; Sandra E Roleofs © http://www.president.gov.ge; conference © Georgian Foundation for Genetic and Rare Diseases
This article was first published in the December 2010 issue of the EURORDIS newsletter