Seminars Oct 2013 - June 2014






September 2013

September 27th 2013
     "Faculty Meeting/No Seminar"


October 2013

5th Annual Arno and Gretal Motulsky Lecture
Friday, October 4th 2013, 3:30pm
Foege Auditorium, S-060
"Some You Win, Some You Lose: Tales From a Career in Gene Discovery"
Jeffrey C. Murray, MD
Professor, Departments of Pediatrics, Epidemiology and Biological Sciences
University of Iowa Carver College of Medicine

October 11th 2013 - ASHG Practice Talks
     "Joint linkage and association analysis with exome sequence data implicates SLC25 A40 in hypertriglyceridemia"
     Elisabeth Rosenthal, PhD
     Acting Instructor, Medical Genetics

     "Large numbers of individuals required to classify and define risk for a rare VUS in known cancer risk genes"
     Brian Shirts, PhD
     Assistant Professor, Laboratory Medicine

October 18th 2013 - ASHG Practice Talks
     "More than 25% of breast cancer families with wild-type results from commercial genetic testing of BRCA1 and BRCA2 are resolved by BROCA sequencing of all known breast cancer genes"
     Tom Walsh, PhD
     Research Associate Professor, Medical Genetics

     "Germline mutations in DNA repair genes in 1412 unselected ovarian, peritoneal or fallopian tube cancers"
     Maribel Harrell, PhD
     Research Scientist, Swisher Lab
     Department of Obstetrics and Gynecology

     "Primary ovarian insufficiency is caused by recessive partial loss-of-function mutations in genes for mitochondrial protein homeostasis"
     Sarah Pierce, PhD
     Acting Assistant Professor, Medical Genetics

     "Genetic variation associated with the susceptibility to herpes zoster in the eMERGE Network"
     David Crosslin, PhD
     Acting Instructor, Genome Sciences

October 25th 2013
     No Seminar/ASHG


November 2013

November 1st 2013
     "Exome sequencing fills missing pieces of the auditory puzzle: implications for deafness"
     Karen B. Avraham, PhD
     Professor, Vice Dean
     Sackler Faculty of Medicine
     Tel Aviv University
     Visiting Professor, Medical Genetics
     University of Washington

November 8th 2013
     "Designing and developing a pandemic flu vaccine that can be sent through the mail"
     Darrick Carter, PhD
     Affiliate Professor, Medical Genetics

November 15th 2013
     "Advances in Pre-Clinical Studies for the Dominant Muscular Dystrophies FSHD and DM"
     Joel Chamberlain, PhD
     Research Assistant Professor, Medical Genetics

November 22rd 2013
     "Sarcomere protein titin mutations in dilated cardiomyopathy and in the general population"
     Daniel Herman, MD, PhD
     Resident, Laboratory Medicine

November 29th 2013
     No Seminar/Thanksgiving


December 2013

December 6th 2013
     "Neurodegeneration with Brain Iron Accumulation: New Genes and Emerging Therapeutics"
     Susan J. Hayflick, MD
     Professor and Chair
     Molecular & Medical Genetics
     Oregon Health & Science University

December 13th 2013
     "Ligand-directed targeting and imaging in translational medicine"
     Renata Pasqualini, PhD
     Maralyn S. Budke Professor of Medicine and Cancer Experimental Therapeutics
     Associate Director, Translational Research
     Division Chief, Molecular Medicine
     University of New Mexico

December 20st 2013
     Seminar Cancelled

December 27th 2013
     No Seminar


January 2014

January 3rd 2014
     No Seminar

January 10th 2014
     "Gene discovery in epileptic encephalopthy - an update"
     Heather Mefford, MD, PhD
     Assistant Professor, Pediatrics-Genetic Medicine

January 17th 2014
     "Spatial and temporal mapping of de novo mutations in schizophrenia"
     Suleyman Gulsuner, MD, PhD
     Senior Fellow, Medical Genetics

January 24th 2014
     "The SickKids Genome Clinic: Developing and evaluating a pediatric model for individualized genomic medicine"
     M. Stephen Meyn MD PhD FRCPC, FABMG
     Senior Scientist, Program in Genetics and Genome Biology
     The Hospital for Sick Children
     Professor of Molecular Genetics and Paediatrics, University of Toronto

January 31st 2014
     Faculty Meeting/No Seminar


February 2014

February 7th 2014
     "Modeling gastroesophageal pathology in Duchenne muscular dystrophy"
     John Hall, PhD
     Senior Fellow, Neurology

February 14th 2014
     "Understanding constraints on the evolution of influenza"
     Jesse Bloom, PhD
     Assistant Member
     Fred Hutchinson Cancer Research Center

February 21st 2014
     "The impact of somatic mutations on birth defects"
     Jimmy Bennett, MD, PhD
     Senior Fellow, Medical Genetics

February 28th 2014
     "Delivery and Functionality of Dystrophin Expression Vectors for Gene Therapy of Duchenne Muscular Dystrophy"
     Jeff Chamberlain, PhD
     Professor, Neurology and Medical Genetics


March 2014

March 7th 2014
     "Stem cell/gene therapy of cancer"
     Andre Lieber, PhD
     Professor, Medical Genetics

March 14th 2014
     Faculty Meeting/No Seminar

March 21st 2014
     "The genetic cause of a systemic vascular disorder: ADA2 and Polyarteritis Nodosa"
     Sarah Pierce, PhD
     Acting Assistant Professor, Medical Genetics

March 28th 2014
     "Precision Medicine for Alzheimer's Disease"
     Thomas Montine, MD, PhD
     Nancy and Buster Alvord Endowed Chair in Neuropathology
     Professor and Chair, Department of Pathology
     Professor, Department of Neurological Surgery


April 2014

April 4th 2014
     "Genomic Evaluation of Inherited Predisposition to Breast Cancer"
     Tomas Walsh, PhD
     Research Associate Professor, Medical Genetics

April 11th 2014
     "Human genetic insights into and molecular characterization of the human clock"
     Louis J. Ptáček
     Department of Neurology
     Howard Hughes Medical Institute
     University of California, San Francisco

April 18th 2014
     "Six degrees: networks, systems and therapeutics in cardiovascular biology"
     Euan Ashley, MD, PhD
     Associate Professor of Medicine and Genetics
     Director, Stanford Center for Inherited Cardiovascular Disease
     Director, Stanford Clinical Genomics Service
     Stanford University

April 25th 2014
     "Defining the spectrum of outcomes in mosaic Turner syndrome"
     Mari Tokita, MD
     Senior Fellow, Medical Genetics


May 2014

May 2nd 2014
     "Duplication 5q35.2-q35.3 Syndrome: An Emerging Phenotype"
     Kelly Jones, MD
     Resident, Medical Genetics

May 9th 2014 2:30-5pm
***POSTPONED***
George Stamatoyannopoulos' 80th Birthday Symposium: Gene Regulation
The May 9th symposium and reception to celebrate George's 80th birthday has been postponed at George's request. Details about at future date will follow. It is not a health related postponement.


May 16th 2014
     "What's up under the tentorium? Genetics of Human Hindbrain Malformations"
     Daniel Doherty, MD, PhD
     Associate Professor, Pediatrics

May 23rd 2014
     "ADCY5-related dyskinesia: Genotypes help resolve puzzling phenotypes"
     Dong-Hui Chen, PhD
     Research Assistant Professor, Neurology

May 30th 2014
     "The Necessary Coupling of MRI and Genetics: Tales from GBM and Fabry"
     Hunter Underhill, MD, PhD
     Acting Instructor/Senior Fellow, Medical Genetics