lecture Jesús Flórez, PhD in Medicine and Pharmacology and president of the Iberoamerican Down 21 Foundation, has given a lecture at the University of Navarra on current advances in the treatment of Down Syndrome. The session, entitled"Modern pharmacological research in animal models of Down syndrome", was aimed at professionals and students of the academic center, as well as relatives of people suffering from this disease.

Down syndrome is due to an alteration Genetics in a person born with 47 chromosomes instead of 46. The chromosomes are arranged in pairs, and in Down syndrome there are 3 chromosomes of the 21 pair (trisomy). This produces an imbalance in the actions of the genes causing health problems such as cognitive disability, congenital heart disease or growth retardation, among others. In Spain, one in every 1,000 children is born.

Jesús Flórez pointed out that"it is not enough to see the gene, what is really important is to look at how they function". In this sense, he indicated that "what interests us is not only the Genetics but also the transcriptome". He also explained that the consequences of the disease are very different in each person. "For example, the intellectual disability of a person with Down syndrome varies greatly from case to case, which indicates that there is a wide interindividual variability".

New treatments and improvements in quality of life

The doctor launched a positive message, pointing out that a citizen with Down syndrome today is not a person with as many limitations as in the past, but is "a citizen who has good perceptual and manipulative abilities , who can read and write fluently, uses the computer, converses and dialogues, develops various activities such as sports, and possesses musical talent and rhythm, among many other qualities". In addition, he stressed that "medical advances have been extraordinary" since, compared to twenty-five years ago, life expectancy has increased from 25 years to 58 years today.

Recent scientific research is proposing possible techniques to reverse the neurological deficits related to Down syndrome, improving the cognitive abilities of the person who has it. All this is being investigated using murine models, mostly mice, which "allow us to do things that we would not dare to do with people," said Flórez.

More than 200 people attended the session, organized by the department of Pharmacology and Toxicology of the School of Pharmacy, which took place at auditorium of the research center Applied Medicine (CIMA) of the University of Navarra.