i3S team receives funding from the Jérôme Lejeune Foundation to study Down’s Syndrome

The research group led by Elsa Logarinho, Ageing and Aneuploidy, was recently awarded a grant from the french Jérôme Lejeune Foundation in the “Advanced Grants” category from the Autumn 2021 application. With this funding of 80 thousand euros, the team will study the cellular mechanisms that underlie the premature aging of patients with Down’s syndrome.

Down’s Syndrome (DS), which was originally described in 1866 by physician John Langdon Down, is a genetic alteration caused by the full or partial presence of a third copy of chromosome 21, as discovered by physician Jérôme Lejeune in 1958, which is why the the syndrome is also called trisomy 21. DS is one of the most common chromosomal changes in humans, affecting one in every thousand babies born. In 2015, an estimated 5.4 million people worldwide had Down’s Syndrome. The condition is associated with delayed child development, characteristic facial features, and various clinical symptoms. Patients with DS also exhibit a variety of pathophysiological features commonly associated with premature aging, such as Alzheimer's disease, hearing loss, and susceptibility to respiratory infections. With improved medical care, the average life expectancy has increased substantially to 60 years, so more patients are experiencing clinical symptoms associated with aging.

The winning project benefits from the previous experience of Elsa Logarinho’s group in the study of chromosomal alterations (called aneuploidies) and their causal role in accelerating cellular aging. In the next two years, the researcher says: “using cells isolated from patients with DS, we will study how the presence of an extra copy of chromosome 21 leads to premature entry of cells into senescence, a pro-inflammatory condition that could be in the origin of premature aging diseases in DS”.
 
Based on preliminary data, says Monika Vilares, who is part of the research team, “the efficacy of a senotherapy capable of delaying the accumulation of senescent cells induced by aneuploidy will be tested pre-clinically. This project will serve as a basis for future studies of the pathological physiology of DS using animal models”.

Created in 1995, the Jérôme Lejeune Foundation initiates, develops, and finances fundamental, translational and clinical research programs in DS and other intellectual disabilities of genetic origin. Each year, the Scientific Advisory Board and external reviewers evaluate more than 100 grants with the goal of selecting the most creative and promising projects whose findings enable patients to live healthier and longer lives.