Unraveling Genetic Blueprints to Conquer Disease
Overview
The answers to some of medicine’s most challenging questions are often written in our genes. The PROPA Lab is dedicated to deciphering this genetic code to understand the root causes of rare genetic disorders and neurodevelopmental syndromes. Our mission is to uncover the specific genetic variants that disrupt normal physiological function, providing clarity for patients and paving the way for new therapies.
Our Integrated Methodological Approach
We employ a comprehensive, multi-omics strategy to gain a holistic view of the genetic basis of disease:
- Functional Genomics & Whole-Exome Sequencing: We start by sequencing the protein-coding regions of the genome (the exome) in patients and families to pinpoint potential disease-causing mutations.
- Integrative Multi-Omics Profiling: We don’t work in a single dimension. We layer genomic data with transcriptomic (gene expression) and epigenetic (gene regulation) information. This integrated profile allows us to see not just the genetic variant, but its functional consequences on cellular processes.
Research Focus and Impact
Our research explores how genetic and epigenetic variations collectively shape an individual’s susceptibility to a wide spectrum of disorders, including neurological, metabolic, and sensory conditions. By connecting specific genetic changes to disease pathways, we aim to transform our findings into novel diagnostic tools and targeted therapeutic strategies, moving from genetic mystery to molecular medicine.
