RECENT ADVANCES IN SMALL MOLECULE THERAPEUTICS AND BLOOD-BASED BIOMARKER ANALYSIS FOR ALS DISEASE (SEM05/26)

Razionale scientifico

Since beginning his postdoctoral work, the principal areas of Dr. Buratti’s expertise have been
the investigation of RNA binding proteins/structure and their influence on translation and
alternative splicing processes.
In 2001, as part of a research project on Cystic Fibrosis, he identified nuclear protein TDP-43
as a potential CFTR exon 9 pre-mRNA splicing regulator.
As a result, in the following years he has performed several basic studies on the biochemical
and functional properties of this protein that have been of great advantage to the scientific
community when its role in neurodegeneration was first reported in 2006.
Since then, Dr. Buratti research has primarily focused on investigating the potential
pathophysiological role played by TDP-43 in Frontotemporal Dementia and Amyotrophic
Lateral Sclerosis, and in better understanding the functional roles played by this protein (ie.
microRNA biogenesis and splicing regulation, shuttling nuclear/cytosplamic properties,
autoregulatory processes, and so forth).