What is Progeria?
The number of children affected by Progeria worldwide
The average lifespan of patients without intervention
The number of point mutations enough to cause Progeria
Point mutation in LMNA gene leads to incorrect post-translational modifications. Progerin is then produced instead of lamin A
accumulation
Progerin retains a farnesyl group and anchors to the nuclear envelope, escaping normal processing and turnover
consequences
Nuclear shape defects, genome instability, altered gene expression and impaired repair accelerate cellular aging
Growth delay, alopecia, lipodystrophy, bone fragility and cardiovascular disease (leading cause of premature mortality)
Why This Research Matters
By studying the mechanisms behind accelerated aging in rare diseases like Progeria, we not only aim to benefit millions facing age-related diseases, but also bring much-needed attention from the broader research community to these often-overlooked conditions. We got inspired by Sammy Basso, our colleague at University of Padova, who not only lived with Progeria but also conducted research to help others.
"Rather than focusing on the limits that Progeria imposes, I prefer to think about the many things in which I can make a difference."
Our Solution
We aim to utilize the Ring Bait System, a recently developed technique for inducing proximity-dependent protein degradation. This method relies on recruiting a protein of interest to the proteasome through a custom-designed interaction with a bait protein fused to a degradation domain.
3-Pillar Strategy
We integrate computational biology, model organisms and mammalian systems for comprehensive therapeutic development.
Computational Biology
In silico prediction of progerin interactor structure and estimation of their binding affinity, along with in vitro validation.
ExploreYeast Model Testing
Testing peptide-progerin interaction in S. cerevisiae through Yeast-2-Hybrid assay, building a model for Progeria studies.
ExploreMammalian Cells Validation
Ring Bait System testing in human cell cultures to validate possible future therapeutic approaches.
ExploreBeyond Progeria
While our primary focus is developing treatments for Progeria, this research contributes to the broader understanding of cellular aging mechanisms that affect us all.
Cellular Repair Mechanisms
Understanding how cells respond to accelerated aging could inform treatments for age-related diseases like cardiovascular and neurodegenerative ones.
Therapeutic Development
Our multi-pillars approach creates a robust pipeline for testing anti-aging therapies across different in vitro and in vivo models.
Scientific
Collaboration
This work builds bridges between several fields such as computational biology, genetics and clinical research, fostering interdisciplinary innovation.
Like Sammy Basso, who approached life's challenges with curiosity and determination, we approach this research with the belief that every scientific question is an opportunity to make a difference. Our work embodies his spirit of turning obstacles into stepping stones for others.
E.A.S.Y. - Easy Accessible Science for You
As part of our commitment to rare diseases research, we are launching the E.A.S.Y. project - Easy Accessible Science for You. This initiative is dedicated to developing innovative tools that simplify scientific literature for patients with Specific Learning Disorders (SLD). By making complex research more understandable and accessible, we aim to shine a light on often-overlooked communities, ensuring that minorities receive the attention and support they deserve.
E.A.S.Y. embodies our belief that scientific progress should benefit everyone.
Preliminary Survey
Anonymous survey to collect people experiences about backgrounds, reading habits, obstacles encountered in understanding texts and strategies that help them along the way.
Article Simplification
Based on the survey results, create simplified versions of different scientific articles.
Experiments & Interviews
Test the simplified articles with target users and gather feedback.
Results Release
Present our work at the 2025 iGEM Grand Jamboree.
Publishing & Tool Development
Writing a scientific article to publish our findings, along with the design and build of an AI-based tool that simplifies scientific papers according to the needs of the user.