So far, more than 8,000 rare diseases have been identified, i.e. diseases that affect no more than one person in every 2,000 of the population. In Poland, 2.5-3 million people suffer from them.
For many years, MUW has been conducting scientific research on the pathogenesis, innovative diagnostics and novel therapies for patients with rare diseases. Specialists from our university are active in expert European networks for rare diseases and collaborate with numerous national and international centers. That is why in 2021 the Centre of Excellence for Rare and Undiagnosed Diseases of the Medical University of Warsaw was established, which is a unique expert platform bringing together university clinical and scientific teams dealing with patients with rare diseases on a daily basis. Prof. Piotr Pruszczyk, Vice Rector for Science and Technology Transfer MUW became the Chairman of the Centre's Council.
The inaugural conference of the Center of Excellence in Rare and Undiagnosed Diseases of the Medical University of Warsaw has finished. Its guests were the government officials: Tomasz Grodzki, Speaker of the Polish Senate, and Maciej Miłkowski, Undersecretary of State in the Ministry of Health as well as Ewa Krajewska, Chief Pharmaceutical Inspector, Prof. Romuald Zabielski, Vice-President of Polish Academy of Sciences and Jarosław Protasiewicz, Director of the National Information Processing Institute.
In his speech, the Undersecretary of State emphasized that when it comes to drug policy, rare diseases have recently received a great deal of recognition. He also stated that the Ministry of Health will increase the role of expert centers for these conditions.
In the following part of the conference, Professor Piotr Pruszczyk talked about the aims and assumptions of the center, speakers - experts of the University of Medical Sciences in the field of rare diseases - about the newest methods of diagnostics and therapy. The patients were also involved in the conference.
Stanislaw Maćkowiak, president of the Polish Patients Federation and the Polish National Forum for Rare Diseases Therapy ORPHAN, when asked about the problems faced by these patients, admitted that the challenges are many. The first is access to diagnostics, especially genetic diagnostics. According to current knowledge it takes about 4 years to diagnose a rare disease in Poland. Once a patient is properly diagnosed, there is the issue of accessibility to health services. There are not many centers for rare diseases in Poland, so finding the right one and reaching it is quite a challenge. - There is also the issue of drug treatment. For only 5% of patients with rare diseases there is an offer of drug treatment. Since drugs for the treatment of rare diseases are usually very expensive (small patient populations), the possibility of their availability to patients is only if they are reimbursed - says Stanislaw Maćkowiak.
Today in Poland people with rare diseases have a chance to get about 30 percent reimbursement of the drugs used to treat these diseases. Compared to previous years this is a big progress.
- A lot of good things are indeed happening. All sorts of systemic solutions have recently been developed and implemented. After 12 years of work, the Plan for Rare Diseases was adopted by the government. It includes systemic solutions concerning mainly medical care. And activities to implement this plan are beginning. What else are we lacking? We need systemic solutions in the area of social assistance, education (both of specialists and patients) and of course access to information - concludes the President of the Polish Patients Federation. This Plan for Rare Diseases calls for the creation of expert centers and centers of high reference. The MUW Center of Excellence for Rare and Undiagnosed Diseases is such a center. Such initiatives are eagerly awaited by patients suffering from rare diseases.