A project for the research of Angelman syndrome, winner of the Pau Massana Grant

• The study, led by researchers Marta Moraleda and Débora Itzep, will investigate the sleep and circadian rhythm disorders of children and adolescents with this pathology

• This is the second edition of the grant that Cellers Maset gives annually to research projects on minority diseases

This Wednesday, May 8, the awarding ceremony of the second edition of the Pau Massana Grant for the research of minority diseases of Cellers Maset was held, which allows for the annual financing of a research project of the Institute of 'Parc Taulí Research and Innovation. The event took place at the venue of the wine company, located in Alt Penedès.

This year, the project that won the grant was "Study of sleep disorders and chronobiological alterations of the sleep-wake rhythm in children and adolescents with Angelman syndrome", led by the researchers Marta Moraleda i Deborah Itzep, both from the research group of Genetically based neurodevelopmental disorders of the Institute.

The aim of the research is to know in depth the functioning and disorders of both sleep and circadian rhythms in a pediatric population group with this syndrome. This is important because these alterations directly influence the sleep-wake cycle and have a negative impact on the person's physical, emotional and mental well-being.

According to the researcher, the intention is also to check whether treatment can be introduced and follow-up to see if there has been an improvement in their daytime life, sleep, cognitive level and the families' quality of life.

The event began with a few words from Marc Massana, owner of Cellers Maset, who wanted to highlight the satisfaction of collaborating for another year with Parc Taulí: "When we decided to create the scholarship two years ago, we looked for a center of reference for the research of minority diseases and we couldn't have ended up in better hands. We hope that this synergy can continue for many more years".

The researcher Marina Pedrosa presented the results obtained in his research project on cystic fibrosis, winner of the Pau Massana Scholarship last year.

Then, a round table was held between the different parties involved in the diagnosis and treatment of Angelman Syndrome: Víctor Martínez, director of the Center for Genomic Medicine, explained the strategic commitment to research and assistance for patients with Angelman syndrome; Débora Coritza, doctor at Parc Taulí and reference in Angelman's syndrome, has described the disease from a care point of view; Marta Moraleda, neurophysiologist expert in sleep and biorhythms, has disseminated it from a neurophysiological point of view; and finally, Casilda Cebrián, mother of a child with Angelman syndrome, has been able to provide her vital and most personal testimony about the disease.

The day ended with a few words from the president of Parc Taulí, Dolores Costa, who has stressed the need to have patronage like that of Cellers Maset to continue competing at the highest level and promote research.

The Pau Massana Scholarship is an initiative of Cellers Maset in collaboration with the I3PT to raise funds and contribute €25.000 each year for research into diseases of low or very low prevalence in society. To reach this amount, the winery put 2.500 bottles of its Solidari cava on sale.

The name of the scholarship is a heartfelt tribute to the youngest son of the Massana family, Pau, who at the beginning of 2000 suffered from a rare lung disease.