- For three years now, Cellers Maset has collaborated annually with the I3PT for the research and development of projects that improve the quality of life of people affected by rare diseases.
- The study approaches Prader-Willi syndrome from a dual perspective, combining two complementary lines of research to improve knowledge and treatment of the disease, for which no cure has currently been found.
Imagine having a constant feeling of hunger. An uncontrollable desire that doesn't stop even after meals. And your body doesn't let you know when it's had enough. This is what people with Prader-Willi syndrome, a rare genetic disease caused by an alteration of chromosome 15. The clearest and most dangerous symptom is hyperphagia, a permanent need to eat that can lead to a high risk of obesity, but also has other associated complications, such as hypotonia, short stature, hormonal problems and cognitive and behavioral difficulties.
This syndrome is the one that has received the financial donation from Cellers Maset, that through the Pau Massana scholarship collaborates annually with the Parc Taulí Research and Innovation Institute (I3PT) for the research and development of projects that improve the quality of life of people affected by rare diseases. “The aim of the grant is to promote medical research to find answers to what is still unknown,” highlighted Marc Massana, owner of Cellers Maset.
In this third edition, the winning project of the grant was “Pharmacogenetics and cognition in patients with Prader-Willi syndrome”, led by doctors Snows Baena i Lorena JogaBoth researchers received the award at the award ceremony that took place this Thursday, April 10, at the venue of the wine company, located in La Granada (Alt Penedès).
A multidisciplinary study
The study approaches Prader-Willi syndrome from a dual perspective, combining two complementary lines of research to improve knowledge and treatment of the disease, for which no cure has currently been found.
On the one hand, it seeks to understand how the pharmacogenetics can help personalize treatment for these patients. Many of them have to take several drugs to manage their symptoms and not all of them respond in the same way. “With pharmacogenomics we want to identify which genetic factors determine these differences so that, in the future, we can adapt medications to the specific needs of each person,” explained Dr. Neus Baena, head of the genetics laboratory at Parc Taulí and researcher at I3PT. Personalization could reduce side effects and increase the effectiveness of treatments, a step forward towards more precise and adapted care.
On the other hand, the project also explores the benefits of early administration of growth hormone, a treatment that is already used to improve physical growth and muscle strength in patients with Prader-Willi. “We wanted to go further and analyze how this intervention can also influence the cognitive development and adaptive capacity of the child,” said Dr. Lorena Joga, child and adolescent neuropsychologist and researcher at I3PT. “In a previous study we saw that those who received growth hormone before the age of 2 showed better intellectual performance and more daily life skills than those who received it later. Now we want to confirm whether these positive effects are maintained as they grow,” she added.
The Parc Taulí, a reference center in Prader-Willi
The Parc Taulí has a extensive experience in the genetic diagnosis and clinical management of patients with Prader-Willi syndrome. Since 1997, a multidisciplinary team made up of geneticists, paediatricians, endocrinologists, nutritionists, psychiatrists, neuropsychologists, orthopedic specialists, digestologists, gynecologists and pulmonologists looks after his clinical treatment and well-being.
We are benchmarks because we give patients added value. It's not just knowing about the disease; it's care, research and clinical trials,” Baena pointed out.
An experience shared by families like Asier's, present at the event, who visit their son at Parc Taulí. "At Taulí we felt very supported from the beginning and they were the first to show us that our son could grow, smile and live a life.", said Vanessa, Asier's mother. For her, feeling welcomed in a reference center where they receive constant monitoring has been key. "Those affected by rare diseases are few, but they have a face, they have a name, and that is very grateful. Knowing that research is also being done gives us light and hope."
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