Nuevos genes, nuevas entidades CMT

11/12/2014

Stephan Züchner, M.D., Ph.D., is a Professor and Interim Chair for the Dr. John T. Macdonald Foundation Department of Human Genetics. He is a trained neurologist and molecular geneticist with research interests in identifying genetic variation associated with disease. His lab has identified several genes for Mendelian neurodegenerative disorders and also evaluated risk factors for complex genetic conditions, including Alzheimer disease, Parkinson disease, and obsessive-compulsive disorder. His lab is amongst the pioneering groups that have promoted genome sequencing methods for disease gene identification in humans, mice, and drosophilia. He is currently pursuing large-scale exome and genome analysis in multiple neurodegenerative disorders and develops innovative new software tools that allow real time shared analysis of large amounts of genomic data.

Vídeos
Ciencias de la vida y de la materia Neuropatías periféricas hereditarias

Evaluación clínica, escalas y diagnóstico

11/12/2014

Redes en CMT: TREAT-CMT

11/12/2014

Diagnóstico genético

11/12/2014

Nuevos genes, nuevas entidades CMT

11/12/2014

Mielinopatías

11/12/2014

Axonopatías

11/12/2014

Modelos murinos de CMT

12/12/2014

Modelos en organismos invertebrados: Drosophila

12/12/2014

Cribado y descubrimiento de nuevos fármacos

12/12/2014

Rehabilitación

12/12/2014