The IGTP Participates in 3 Projects funded by the 2019 Edition of La Marató

- Research

The Germans Trias i Pujol Research Institute (IGTP) has received a total of 305,680 euros for three projects on rare diseases in which it participates or coordinates. In total the three projects have received financing of more than a million euros, to be divided between the several institutions participating. This edition of the fundraising marathon will fund a total of 41 biomedical research projects of excellence on rare diseases. The projects aim to provide better diagnosis at birth and provide more efficient and safer treatments to improve quality of life and extend the lifespans of people affected.

At the IGTP three of the 41 projects will be carried out, in coordination with other centres and led at Can Ruti by Dr Elisabeth Castellanos, Dr Dr Miquel Àngel Peinado and Dr Ana Rodríguez..

Dr Elisabeth Castellanos of the Hereditary Cancer Research Group will coordinate the project entitled Patient-centred research: a study of patient needs, clinical phenotype and molecular pathogenesis in Neurofibromatosis Type 2, which has received 299,608,40 euros.  The aim is to develop personalized medicine for NF2 patients and study the molecular pathogenesis of audio-vestibular disfunction and meningiomas, the two major symptoms of NF2.

Dr Miguel Angel Peinado, leader of the Epigenetics of Cell Differentiation and Cancer Research Group, will participate in the project Use of artificial intelligence and systems biology for the diagnosis and evaluation of personal risk for hereditary kidney diseases, focussed on Alport's Syndrome, coordinated by the Hospital Santa Creu and Sant Pau Research Institute (Puigvert Foundation). The project focusses on designing a tool with predictive models (machine learning) to improve the diagnosis of hereditary kidney disease and also to develop a tool to identify the risk of progression of the disease using clinical and -omics data for autosomal dominant Alport Syndrome (ADAS).

Dr Anna Rodríguez-Hernández of the Neurosurgery Service at the Germans Trias i Pujol Hospital has received financing for the project Disfunctions in the blood-brain barrier (BBB) and modulation of oxidative stress in cerebral arteriovenous malformations: a translational study of side effects of surgical intervention, coordinated by the IDIBAPs. The project will study the biological relevance of damage to the BBB in patients affected by MAV, the role of oxidative stress in producing BBB damage, secondary brain lesions and the potential effects of antioxidant mechanism in animal models.

The studies selected by the TV3 La Marató Foundation are were the most highly scored amongst 228 projects presented for the most recent call for research grants. A total of 190 international scientists, expert in rare diseases have reviewed the applications in an evaluation process coordinated by the Agència de Qualitat i Avaluació Sanitàries de Catalunya (AQuAS) and the Ministry of Health of the Government of Catalonia, which has reviewed quality, methodology, scientific and health relevance, innovation and viability.