CMT RESEARCH AT THE UNIVERSITY OF MIAMI
The Saporta Lab focus in developing human cellular models to study CMT. Using cellular reprogramming and differentiation, our group creates neuronal cell cultures derived from skin samples of patients with CMT. This technique allows us to investigate the main cell types affected by CMT in a controlled environment. Our group is also interested in studying mechanisms that lead to degeneration of axons, This is one of the main determinants of disability in CMT and an importante target for therapy.
The Zuchner Lab is a world leader in gene discovery for CMT. Our group was involved in the identification of over 50 different genes involved in human disease. Our group has also pioneered the use of next generation sequencing to accelarate gene discovery and created the world's first and most successful genomic analysis and sharing platform. Our system is used by investigators in 37 countries and has contributed to nearly 80 gene discoveries in the past three years.