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.
About the author:
Dr. Marta Zegre de Amorim is a medical specialist in Genetics, with nearly 20 years of clinical experience and research in medical genetics, oncogenetics and rare diseases. She is currently a Consultant in Medical Genetics at Hospital Lusíadas Lisboa, where she also holds coordination duties. At Quilaban, she serves in Medical Affairs, regularly taking part in training activities, congresses and scientific initiatives related to genetic sequencing, epigenetics and precision medicine.
Throughout her career, she has taken part in national and international research projects, developed collaborative work at centres of reference such as Addenbrooke’s Hospital (Cambridge) and SickKids (Toronto), and has authored dozens of scientific publications in clinical genetics, hereditary syndromes and oncogenetics.
