Barcelona hospital launches adult rare disease research program

The Bellvitge Biomedical Research Institute (IDIBELL) has launched a new research program focused on rare diseases in adults.

Its goal is to improve coordination between researchers and clinicians at the Bellvitge Health Campus in Barcelona and "leave no one without a diagnosis." 

On average, adult patients with rare diseases wait six years before receiving a diagnosis, often leading to anxiety, depression, and worsening health.

"Without a diagnosis, the disease progresses, and many patients die without knowing the cause. We cannot allow this to happen," said María Molina, the scientific director of IDIBELL.

The Bellvitge Campus provides care to 2.1 million people in the southern metropolitan Barcelona area, Tarragona, and Terres de l'Ebre counties.

This gives researchers access to enough patients to carry out high-quality studies and translate findings into real treatments.

390 rare adult diseases will be targeted, including neurological, muscular, respiratory, cardiovascular, metabolic, and hereditary cancer conditions.

While each disease is uncommon, more than 7,000 rare diseases are known worldwide, and affect between 5% and 10% of the population overall.

Bellvitge is already recognized nationally and internationally for its expertise in many of these conditions.

Program coordinators say advances in diagnostics and genetics are helping identify more adult-onset rare diseases.

These conditions often present with less clear symptoms than in children, making specialized expertise and research essential.

The program will involve 46 principal investigators across 23 research groups, with the participation of more than 200 professionals.