The first edition of Únicas Talks focuses on rare neurological conditions

Barcelona has hosted the first edition of Únicas Talks, a new forum for debate and the dissemination of scientific knowledge on rare diseases, organised by the SJD Barcelona Children's Hospital and the “la Caixa” Foundation. The event, held at the CosmoCaixa Science Museum, brought together national and international experts to discuss advances and challenges in the treatment of rare neurological diseases.

The event was opened by the Catalan Government’s Minister for Health, Manel Balcells, and the Director of Relations with Research and Health Institutions at the “la Caixa” Foundation, Ignasi López. Subsequently, Dr Manel del Castillo, manager of SJD Barcelona, presented the Red Únicas project, an initiative comprising 30 hospitals across the country with the support of the Ministry of Health, which works to ensure that all patients with rare diseases receive excellent care, regardless of where they live.

During the event, key topics were addressed, such as collaboration between basic and clinical research, the challenges of genetic diagnosis, and the potential of new advanced therapies. Families also shared their experiences of living with a rare condition, raising awareness that the number of people affected is not limited to the patients themselves, but also extends to their entire social circle. The speakers agreed that, whilst much progress has been made over the last two decades, there is still a long way to go.

Various panel discussions

The conference was structured around four panel discussions. The first, moderated by science journalist Josep Corbella, addressed the dialogue between basic and clinical research, with contributions from Dr Óscar Marín of King’s College London and Dr Joan Camprodon of Massachusetts General Hospital.

The second panel discussed current barriers to diagnosis, featuring experts such as Dr Ángel Carracedo from SERGAS-Xunta de Galicia, Dr Raúl Benítez from the UPC – IRSJD, and Dr Rafael Artuch from SJD Barcelona, moderated by Dr Francesc Palau.

The third panel, moderated by Dr Alessandra Magnani, head of the hospital’s Advanced Therapies Platform, offered a hopeful outlook on the development of new therapies. This session featured professionals from the hospital itself, including Dr Andrés Nascimento, Dr Esther Via, Dr José Hinojosa and Dr Alfonso Oyarzábal.

The final panel discussion centred on the genetic causes of these conditions and fostered a dialogue between the scientific community, families, patient organisations, the health authorities and industry. Moderated by CSIC researcher Lluís Montoliu, the panel featured testimonies from Ms Anna Ripoll Navarro of FEDER, Ms Leticia Beleta, from Alexion AstraZeneca Rare Disease Iberia; Ms Luisa Martínez, mother of a child with a rare disease and strategic projects manager at SJD Barcelona; and Dr Manel Fontanet, from the Catalan Health Service.

The event concluded with remarks from Dr Encarna Guillén, from the Virgen de la Arrixaca Hospital, and Dr Joan Comella, from SJD Barcelona, who emphasised the need to continue joining forces across all sectors to change the course of these rare diseases.