Dr. Zuchner’s research interests are focused on identifying, characterizing, and correcting genetic variation with a strong biological effect on human phenotypes. His long-standing interest in rare diseases include a spectrum of neuromuscular, degenerative motoneuron disorders, ataxias, and more. 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 and is applying and developing advanced bioinformatics tools. More recently, he is pursuing the pre-clinical development of novel personalized genetic therapies for inherited diseases.
TURQUESA 2 (4º Andar)
08:00 às 09:30 - MÓDULO II - SE VOCÊ NÃO SABE O QUE É VAI OUVIR FALAR, SE JÁ OUVIU FALAR ESTÁ NA HORA DE ENTENDER
08:00 às 08:25 - The continued promise of genomic technologies and software in neurogenetics
TURQUESA 1+2 (4º Andar)
15:50 às 17:05 - MÓDULO XIII - DEBATE - The next decade of neurogenetics research, diagnostics, and therapy