Neurology Grand Rounds

Kinne Auditorium

Monday August 29, 2016 at 12:15 PM

Video-conferenced to Nemours 1 North & Mayo Clinic Health System in Waycross

Oswaldo Lorenzo-Betancor M.D., Ph.D., presents:

“Genetics of Moyamoya Disease” 

at Neurology Grand Rounds 12:15 PM on August 29, 2016

Dr. Oswaldo Lorenzo-Betancor (MD, PhD), Neurogeneticist and Neurologist, Neuroscience Department, Mayo Clinic, Jacksonville, Florida, USA. I am a Research Fellow working on neurodegenerative diseases, specifically Parkinson’s disease (PD) and related disorders. From 2005 to 2009 I completed a residency in Neurology at the Universitary Insular Hospital of Gran Canaria (Las Palmas de Gran Canaria, Spain. From 2009 to 2013, I worked on my doctoral thesis on novel genetic factors affecting PD at the Center for Applied Medical Research (Pamplona, Spain), entitled “Identificación de nuevos factores genéticos asociados a enfermedad de Parkinson” (Identification of novel genetic factors associated with Parkinson’s disease). I obtained the “Summa Cum Laude” qualification for my Doctoral Work from the University of Navarra. Moreover, my Doctoral Thesis obtained the Best PhD Work Award from 2013 in the Science field by the University of Navarra. During this period I was co-author of 20 articles in international journals of high impact, including the first anatomopathological description of a Parkinsonian subject carrying 2 heterozygote compound mutations on PINK1 gene. In September 2013 I started to work at Dr. Owen Ross’ neurogenetics laboratory at the Mayo Clinic, Jacksonville. Since then, I have been co-author of 17 additional articles in international journals, three of them as first author and one of them as corresponding author. The main goal of my research is the identification of novel genes involved in the development of PD and related neurodegenerative disorders using classical genetic analysis methods, novel Next Generation Sequencing (NGS) and genome-wide genotyping platforms. During this period I have worked with multiple bioinformatics tools to analyze NGS data using both, commercial softwares (GoldenHelix, Ingenuity) as well as perl based pipelines in Linux environment, data management with SQL databases and basic knowledge on R programming.

Define areas of new neuroscience knowledge and research

Understand Clinicopathologic (CPC) correlations of neurologic disease

Illuminate areas of practice-based improvement within the neurosciences based on advancing scientific research or Practice-based improvement projects.

The speaker does not have a relevant financial relationship, and does not intend to discuss off label/investigative use of a commercial product or device.

College of Medicine, Mayo Clinic, is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.

College of Medicine, Mayo Clinic, designates this live CME activity for a maximum of 1.0 AMA PRA Category 1 Credits^RM .  Physicians should claim only the credit commensurate with the extent of their participation in the activity.

This program is supported in part by an educational grant from the following companies in accordance with ACCME Standards:  NONE