Rare diseases represent a big challenge for biomedical research, health care and society in general, given their high diversity and low numbers/scattered distribution of patients.

Even though the incidence of each rare disease is not higher than 1 in 2,000 newborns, there are around 7,000 rare diseases that affect 30 million people in Europe alone. In Portugal, it is estimated that 600-800,000 people suffer from RDs.

In most cases, diagnosis is especially difficult for these diseases, the drugs that are available are expensive and the interest of the pharmaceutical industry in developing new drugs is limited, all this leading to patients and their families lacking satisfying answers.

Lysosomal diseases and ciliopathies are conditions that share the same basic molecular defect(s) and common defective cellular phenotypes, despite being clinically very diverse. These are two of the main research fields of CEDOC-NMS|FCM, and the ones subject to strengthening through this Twinning project.

Rare Disease