JUNE 2018

Ampans Foundation awards Catalònia Fundació Creactiva and Synlab for their ID genetic diagnosis project.

Its objective was to evaluate the potential of genetic diagnosis in intellectual disability. During the project, a genetic analysis was carried out on 180 adults with brain damage, living in residential homes at Catalònia Fundació Creactiva with the objective of searching for the etiology of the brain damage.

• 18% of the population studied, showed pathogenic mutations caused by intellectual disability and in 39% of the total sample, genetic variations were observed which are not reported as pathogenic although they may have an implication in the multifactorial environment.

Barcelona, 7th June, 2018.- The project Genetic Actionability in Care for people with Intellectual Disability, driven by Catalònia Fundació Creactiva with the collaboration of Synlab, has been awarded the prize for Innovation, given by Ampans, dedicated to the complete inclusion of people with intellectual disability (ID).
The first phase of the Project had as its objective, evaluating the potential of genetic diagnosis in intellectual disability. During its development, a genetic test was carried out on 180 adults with brain damage living in residential homes at Catalònia Fundació Creactiva with the objective of searching for the etiology of the brain damage.
Results
18% of the population studied, showed pathogenic mutations caused by Intellectual Disability and in 39% of the total sample, genetic variations were observed which are not reported as pathogenic although they may have an implication in the multifactorial environment.
In the first instance, the project highlights the importance of genetics in the early diagnosis of ID. Thanks to this information, parents will be able to make the best decisions to treat the illness better from day one. Secondly, this information allows us to chart specific treatments to improve the quality of life of these people.
On receiving the award, Dr Luis Izquierdo, director of Genetics at Synlab and medical director of the Project said that it had been down to teamwork “and this prize encourages us to keep going forward”. He highlighted “The humane treatment and scientific vigour” which he found at Catalònia Fundació Creactiva and added that “New genetics are going to allow us to find the genetic causes of ID and make an early diagnosis which will act as an important relief to parents”. Doctor Izquierdo concluded by indicating that the following step is “Using genetics to improve the quality of life of handicapped people and we are working on this”.
Second Phase
In light of these results, at the end of 2017 Catalònia Fundació Creactiva and Synlab started a second project focused on the analysis of gut microbiota based on existing scientific evidence of the relation between the intestine and the brain relying on multifactorial genetics, genetic polymorphisms, that is to say, small variations in genes or parts of them, which combined with external factors may modify certain organic patterns that could alter the optimum biological functioning of the organism. The non-existence of a clear genetic cause of mutations or deletions/duplications, leads to the suspicion of certain vulnerabilities which combined with gut microbiota, increases the non-functionality of the organism and may directly affect people.
About SYNLAB Group
SYNLAB group has established itself as the leader in medical laboratory services in Europe, offering one of the most innovative and complete range of services of those currently available on the market, both for patients and also for medical professionals, hospitals and the pharmaceutical industry.
The company is present in more than 40 countries on four continents, maintaining market leadership in the majority of markets. 19,000 employees contribute on a daily basis to the group´s success. SYNLAB carries out 500 million laboratory tests each year and its sales passed 1,700 million euros in the last financial year.