00:00More than 2 million people in Italy are affected by rare disease.
00:08For about 8,000 known pathologies, but only for 5% of them, there is a cure.
00:13Thanks to the progress of scientific research, however, numbers and lives can also change radically.
00:18Research after early diagnosis, taking charge, is the third theme chosen by UNIAMO,
00:23the Italian Federation of Rare Diseases, for the awareness campaign UNIAMO le Forze.
00:27For the whole month of February, in fact, many stakeholders will carry out over 60 events,
00:32accumulated by the CLAIM, much more than the images that will lead to the 28th of the month,
00:36the Day of Rare Diseases.
00:38This was discussed during the inaugural event at the Ministry of Health,
00:42to which the representatives of the main actors involved in the field of research on rare diseases have participated.
00:47Research is fundamental for the future of people with rare diseases,
00:51but we must not only think about research that leads to pharmacological treatments.
00:56There is behavioral research, research on the natural history of the patient,
01:00research also on organizations that improve the ways of taking charge.
01:04It is also important to build a network on research, so that no initiative is wasted.
01:11Research on rare diseases in recent years has never stopped, thus deepening further important aspects.
01:17Not only research based on the definition of pathogenic mechanisms of rare diseases
01:24and the development of drugs, but also research on the organization of health systems,
01:30on the care of people with rare diseases,
01:34especially those who have more difficulty accessing the health system and are therefore more disadvantaged.
01:45All this research is carried out in a multistakeholder environment,
01:50with the involvement of all the actors involved,
01:53first of all the patients who are then destined for the outcomes of the research.
01:59Fundamental in the management of rare diseases is the early commissioning,
02:03as the rapidity of diagnosis of certain pathologies allows to cure them more effectively.
02:08Their fundamental role is carried out by the free choice pediatrics,
02:11which are the doctors who see first the children,
02:14so they have the possibility to diagnose and identify certain symptoms
02:18that can lead to diseases,
02:20and then get involved in the network that the CONEMAR, the national committee,
02:25has contributed to and is contributing to design at the national level,
02:30precisely to make clear and clear pathways of care.
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