Abstract

Rare Diseases have an incidence of less than 5 cases per 10,000 people, with around 7,000 diseases identified worldwide, being 80% of genetic origin. It is estimated that in Portugal there are 600,000 to 800,000 patients with rare diseases. Next Generation Sequencing (NGS) technology is underlying major advances in genetic diagnosis of rare metabolic diseases, as it has the capacity to generate a huge amount of data in a short time and at an affordable cost, providing practical information to health professionals and patients within the scope of personalized medicine. The translation of NGS knowledge to the laboratorial routine is facilitating a better understanding of these rare diseases and is allowing a quicker detection of similar cases, reducing the costs in the National Health System due to prolonged and unspecific palliative treatments. This translational research is enabling our country with new technological approaches, strengthening our Center as a reference laboratory for the study of these pathologies.

Keywords: NGS; Rare Diseases; WES; Exome Sequencing