The Sant Pau Research Institute (IR Sant Pau) has been honoured in the research centre category at the second edition of the Transconca Awards 2025, an event that recognises the work of professionals, organisations and companies dedicated to rare diseases.
The award was given for research on CADASIL, a rare neurovascular disease of genetic origin. This recognition highlights IR Sant Pau’s contribution to scientific progress and improving the quality of life of those affected by this condition.
The awards ceremony took place on Sunday, 23 February, at the football ground in La Pobla de Claramunt, where professionals and organisations committed to rare diseases gathered. Dr Elena Muiño and Dr Jesús Martín, members of IR Sant Pau’s Pharmacogenomics and Neurovascular Genetics Research Group, accepted the award on behalf of the research team.
“We would like to thank this platform for allowing us to express our commitment to researching these diseases. This recognition is a great motivation to continue advancing CADASIL research. Initiatives like this set an example, and we hope even more people will join this cause next year,” said Dr Muiño during the event.
The Transconca Awards, organised by the entity of the same name, aim to raise awareness and support research and the work of professionals and families striving to improve the lives of people with rare diseases. For IR Sant Pau, this recognition serves as further motivation to continue investigating and advancing knowledge of these conditions.
CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a rare genetic disease that affects the brain’s blood vessels. It is caused by pathogenic genetic variants in the NOTCH3 gene and leads to alterations in cerebral blood flow, resulting in ischaemic strokes, migraine with aura, cognitive decline and, in advanced stages, dementia. There is currently no curative treatment, but ongoing research is essential to better understanding the disease and developing new therapeutic strategies.
