Today, Thursday February 29, is World Rare Disease Day
A symbolic date to draw attention to those diseases that are deeply complex to investigate, whose delays in diagnosis can exceed 5 years, with very serious repercussions for patients and their families.
What are rare diseases?
Rare diseases are defined as such due to their low prevalence in different populations.
In the European Union, a disease is considered rare when it affects fewer than 1 in 2,000 individuals, or 0.05% of the population. Although individually rare diseases may seem to have a low incidence and represent only a niche issue, it is estimated that collectively they affect between 6% and 8% of the total population, in other words, between 24 and 36 million people in the European Community (equivalent to the combined populations of the Netherlands, Belgium, and Luxembourg). About 80% of the identified rare diseases are believed to be of genetic origin.
The NGS technique: a breakthrough in the diagnosis of these diseases
Next Generation Sequencing represents a fundamental investigative tool for the search for genetic variants that has allowed for an increased general awareness in the field. This approach is an integral part of the technical-scientific know-how of the GGB Hub diagnostic laboratories.
Screening and early diagnosis: An ongoing revolution
As with any other disease, early diagnosis and prevention are fundamental factors.
In this perspective, today there are many possibilities provided by efficient prenatal and neonatal screening models.
Valid means to consider potential risks and act promptly if necessary.
Our commitment alongside patients and families
Research in predictive genetics and the expansion of diagnostic offerings represent the core on which the GGB Hub team is constantly committed. Bioinformatics services and the ability to perform increasingly personalized exams are the main focus of our work.
High-level expertise
Through its highly qualified personnel and state-of-the-art genomic services, the GGB Hub provides next-generation sequencing (NGS) services with Illumina equipment and bioinformatics services for applications in the fields of Genomics, Metagenomics, Transcriptomics, and Epigenetics, both in research and clinical/diagnostic contexts.
Diagnostic investigations of rare diseases must follow a precise clinical hypothesis and require close collaboration between the geneticist and the facility conducting the analyses. The interaction between expert figures is essential to contextualize laboratory findings within the framework of the individual patient.
Our genomics laboratory has developed unique expertise in creating customized sequencing panels and bioinformatics analysis to meet the diverse needs of the individual patient and capable of interfacing with the various clinical aspects that rare diseases entail.
