Rare diseases: only 6% have specific treatment
Only about 6% of rare diseases have a specific treatment, according to Juan Carrión, president of the Spanish Federation for Rare Diseases (FEDER). Speaking at a congress in Seville on 17 September, he called for scientific advances to reach people who need them. The meeting at the Fundación Cajasol runs until 18 September.
FEDER says 3.4 million people are affected by rare diseases and wait an average of six years for a diagnosis. Carrión said progress in research, genomics, diagnosis and new treatments must become real opportunities regardless of a person’s condition or where they live.
From research to treatment
Carrión urged health services to carry knowledge “from the laboratory to the consulting room”, then into people’s daily lives. He said those affected must be treated as active participants in the scientific and healthcare system.
Jaime Román Alvarado, president of the Official College of Pharmacists of Seville, said the congress had put diagnosis, research and access to new treatments on the agenda.
Ministry points to new measures
Health Secretary Javier Padilla said medicines for rare diseases and rare conditions were a priority for the Ministry of Health. He pointed to expanded newborn screening, genetics and genomics services, the ÚNICAS project and more Centres, Services and Reference Units.
Carla Alejandra Dueñas Cañas from the ministry said the updated national strategy includes equity, access to treatment, value and sustainability, as well as a new health-economics strand. The World Health Organization is due to present an action plan in 2028 for the following decade.
Andalusia’s new regional plan sets out 109 measures through to 2029, including patient registers, training, early diagnosis and patient participation.
Source: Europa Press / Mallorca.com