Rare diseases are conditions that affect fewer than 1 in 2 000 people, and the majority (80%) are genetic diseases. These diseases are typically chronic, severe, and often degenerative and fatal.
Two-thirds of rare diseases affect children, and around one-third of these children do not reach their fifth birthday.
It is estimated that 600 000 people in Portugal suffer from a rare disease.
Diagnosing these diseases is increasingly feasible through advanced sequencing techniques, offering numerous benefits: early diagnosis, prevention, monitoring, personalized care, prognosis, reproductive options that reduce recurrence risk, and increasingly personalized therapies.
Patients with complex cases, presenting numerous signs and symptoms that suggest a syndromic presentation, particularly at young ages, should not be viewed as unsolvable cases. They should be referred to a Medical Genetics consultation. The potential for study and answers is continuously growing, with a significant impact on patients’ lives.
