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The long-range goal of research in the Gonzalez-Alegre Lab is to develop treatments for human diseases caused by basal ganglia dysfunction based on biological information gained from studies performed in cellular and animal systems and in patients seen in the clinic. The lab focuses on the study of inherited diseases, mostly dystonia, Huntington’s Disease and inherited ataxias.
The lab’s research on inherited dystonia uses cellular and animal models to better understand the neurobiological process underlying this movement disorder. By investigating different genetic forms of this disorder, such as DYT1 and DYT6, the research team aims to identify shared pathogenic pathways, with the goal of devising therapeutic strategies that could be applicable to different forms of dystonia. In addition, the Gonzalez-Alegre Lab is developing gene silencing strategies, such as RNAi and antisense oligonucleotides, as potential therapies for specific genetic forms of dystonia.
Through collaborative translational work with other member of the Center for Cell and Molecular Therapy, Dr. Gonzalez-Alegre directs the efforts to design and perform early phase clinical trials in patients with neurological disease using molecular therapeutic approaches such as gene replacement or silencing.
- DYT1 Project: DYT1 is an inherited early-onset form of dystonia caused by a mutation in the Tor1a gene and currently lacks a cure. The Gonzalez-Alegre Lab is studying the role of the ER pathway proteins and ER stress in DYT1 rats and mice as well as assessing the potential of antisense oligonucleotide and RNAi therapies to improve motor behavior and molecular pathology in these animal models.
- XDP Project: X-linked Dystonia Parkinsonism is an X-linked neurodegenerative disease typified clinically by development of dystonia followed by parkinsonism. While an understanding of the disease is limited, the lab is seeking to evaluate the underlying mechanism and using RNAi to block these processes in cellular and animal models to gain insight into novel methods to protect against neurodegeneration in general and paradigms for treatment of patients with XDP.
Director for Clinical Programs, Raymond G. Perelman Center for Cellular and Molecular Therapeutics
Dr. Gonzalez-Alegre's long-range research goal is to advance the application of precision medicine in the neurology clinic. His research focus revolves around genetic disorders that affect the brain, spanning from the diagnosis of novel genetic disease in the clinic to the identification of novel molecular targets using disease models and the design of early-phase human clinical trials.