The Huntington Research and Care Unit is dedicated to advancing the understanding and treatment of Huntington’s disease, covering a broad spectrum of activities ranging from genetic research to the development of effective therapies.
In the field of genetics, the Unit focuses on enhancing the sensitivity, specificity, and reliability of DNA testing for diagnostic purposes and characterizing population haplotypes to support the development of new, selective gene and genetic therapies. The Unit has also been instrumental in identifying the genetic causes of the juvenile form of the disease.
In cellular biology, the Unit is actively involved in generating cell lines from peripheral patient tissues, which are critical for creating neuronal models based on pluripotent stem cells. The team also investigates receptors and cellular partners that could serve as potential biological markers or therapeutic targets.
Clinically, the Unit conducts an extensive array of observational studies aimed at improving the understanding of atypical disease variants, such as pediatric forms. High-definition imaging technologies are utilized to identify and refine clinical markers, advancing diagnostic and prognostic capabilities.
The Unit is also at the forefront of developing innovative experimental therapies, with a focus on implementing personalized, preventive, and neuroprotective medicine.
Notably, the Unit served as the coordinating center for Italy in two landmark clinical trials: Generation-HD1, the first trial using an antisense oligonucleotide (ASO) drug for an adult neurodegenerative disease, and PIVOT-HD, the first trial evaluating a splicing modifier for Huntington’s disease.
