The International Roche Infectious Diseases Symposium (IRIDS) is an infectious diseases (ID) conference sponsored by Roche Diagnostics.

This biennial symposium, which this year lasted for three days, provides a forum for world-renowned academics and clinicians to share their knowledge, debate and discuss the most current and emerging issues in infectious disease (ID) management and diagnostics.

Within this intimate collegial environment, Roche hopes that the exchange of knowledge and opinions fostered at IRIDS will help support new discoveries to overcome challenges in the ever-changing field of ID.

Today we learned…

that Fabry disease is an inherited disorder of glycosphingolipid catabolism caused by deficiency of the lysosomal enzyme α-galactosidase A (α-GAL A), which leads to intracellular deposition, especially globotriaosylceramide (Gb-3), in the vascular endothelium and other tissues.

It was described by Johannes Fabry in 1898.

It is transmitted X-linked, and more than 400 mutations have been described to date (Human Gene Mutation Database, Institute of Medical Genetics, Cardiff).

There is currently no cure for Fabry disease. The symptoms and health problems resulting from the disease can be addressed with different types of therapies.

The aim of the well-known enzyme replacement therapies is to replace the natural enzyme, thereby removing GL-3 from the cells and preventing its further accumulation in the cells.

Share4Rare is a European project that aims to contribute to improving the quality of life of people living with rare (minority) diseases and their families. To this end, a community has been created to bring together the entire rare disease ecosystem to ultimately create impact.

To celebrate Rare Disease Day on 28 February, Share4Rare has launched a series of activities throughout the month, and on 4 February it was a pleasure to facilitate communication between patients, families, caregivers and associations and geneticists Gemma Marfany and Lluis Montoliu, who answered many questions raised during the webinar dedicated to the role of genetics in the diagnosis of rare diseases, using clear and accessible language for everyone listening.

In order to specifically address the impact of the current pandemic on people affected by minority diseases, the HSJD in Barcelona has organised a three-day international congress in collaboration with the Juan P. Garrahan Hospital in Buenos Aires.

Thanks to the recent creation of an international registry of patients with rare diseases and COVID-19, this congress, aimed at both the scientific community and patients and families, seeks to improve current knowledge of the effects of this new disease on these patients.

The congress is also part of a very active platform of the social network of the Hospital Sant Joan de Déu, Share4Rare, which allows patients with minority diseases, their families and carers, health professionals and researchers to exchange experiences and knowledge in order to promote research in this area.