Roles
Professor for Human Genetics and Neurology
Chief Genomics Officer, Leonard M. Miller School of Medicine
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Education & Training
Education
Post Graduate Training
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Honors & Awards
No result found
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Research Interests
Dr. Zuchner’s research interests are focused on identifying, characterizing, and correcting genetic variation with a strong biological effect on human phenotypes. He is also co-leading the SEEC consortium, which is part the largest research participant enrollment efforts in the US, the All of Us Research Project. SEEC represents the largest NIH research award at the University of Miami and includes major collaborating partners in Florida, Georgia, and Puerto Rico. The national program will eventually include over one million participants, complete with electronic health records and whole genome sequence data broadly available for research. Dr. Zuchner’s long-standing interest in rare diseases include a spectrum of neuromuscular, degenerative motoneuron disorders, ataxias, and more. The team has supported the identification of over 50 novel disease genes, which frequently have been published in the top biomedical journals. These discoveries often arise from highly collaborative work with local, national, and international physicians and scientists. Dr. Zuchner is also in leading roles of several research consortia, such as the inherited neuropathy consortium, spastic paraplegia network, undiagnosed diseases consortium, and ataxia global consortium. His lab has large, aggregated data collections available (i.e. GENESIS database access) and is applying and developing advanced bioinformatics tools (ExpansionHunter, MAVERICK), which is benefitting the success of his students, post-docs, and scientists. More recently, he is pursuing the pre-clinical development of novel personalized genetic therapies for inherited diseases. Such genetic therapies (CRIPR/Cas9, antisense oligonucleotides, minigene designs) are increasingly reaching patients with genetic diseases with astonishing results. -
Publications
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Copyrights & Patents