The IV Conference on Minority Diseases of Bellvitge vindicates the key role of genetic reanalysis

Genetic studies that initially gave uncertain results can provide a reliable diagnosis if reviewed after two years

Laboratori d'Anàlisis Moleculars de l'Hospital de Bellvitge i l'Institut Català d'Oncologia 2

The IV Conference of the Minority Diseases Group of the Bellvitge University Hospital and IDIBELL, which will be held on October 26 at this hospital, will address some of the most recent diagnostic and therapeutic developments in these diseases and, among other topics, will vindicate the importance of performing reanalysis of genetic studies.

Reanalysis consists of re-examining after a period of time – for example, two years – the same information that originally did not allow conclusive results to be reached. This is important because there are currently several powerful genetic databases around the world that are fed with new information daily. Thus, it is possible that, without the need to perform any new test on the patient, in a short time the reanalysis will allow us to reach the diagnosis that had not been reached previously, thus being able to make a precise diagnosis, indicate a specific treatment and also determine the genetic risk of the patient’s relatives.

Dr. Antoni Riera-Mestre, head of the Systemic, Vascular and Aging Diseases Group at IDIBELL, warns that “doing reanalysis is not easy, it requires organization, multidisciplinary teamwork and more resources, and that is why it is so complex to periodically perform reanalysis in routine clinical practice. From my point of view, they should be considered and integrated into healthcare activity.”

As every year, the IV Conference on Minority Diseases will feature some of the most prominent specialists in minority diseases on the Campus, many of them references in Catalonia and Spain, as well as external guests, as a reflection of the high level in the management of these diseases in Catalonia.

The conference will bring together specialists in clinical care and research, in genetics and clinical analysis and in basic research, to highlight the interprofessional and translational nature of the different units that make up the Minority Diseases Group and that work in coordination on the Bellvitge Campus, with the common objective of offering a comprehensive answer to the numerous questions that these diseases still raise.

Among others, one of the novelties that will be presented will be the pioneering clinical research carried out in Erdheim-Chester disease through examinations with a combined positron emission tomography and magnetic resonance imaging (PET/MR) equipment, which has been possible thanks to the recent incorporation of this technology at the Bellvitge University Hospital, which has become the first public center to have it in Spain for healthcare use.

Likewise, one of the featured guests will be Dr. Rita Reig, from the CatSalut Minority Diseases Program, who will present the achievements and pending challenges in this area in Catalonia.

Dr. Riera-Mestre points out that the coordinated work between different specialists, health professionals and centers that is carried out on the Bellvitge Campus in the field of minority diseases “is a transversal project and an identifying seal of our center, which allows us to look for synergies and move better and faster to improve care for patients with rare diseases and their environment.”

The day is supported by the Platform for Minority Diseases and FEDER, as well as by numerous patient associations at the Catalan and Spanish level, and has been officially accredited as continuing health training.

Scroll to Top