Center for Clinical Genetics
and Genomics

Interdepartmental Human & Medical Genetics Retreat

Details

Thursday, September 13, 2018
8 AM – 5 PM
University Club in Oakland
Ballroom A
123 University Place
Pittsburgh, PA 15260

 

 

Agenda

8:00-9:00Breakfast/Registration
9:00-10:30Scientific Session 1‬
9:00-9:30
Jerry Vockley
Recent highlights from Children’s Pediatric Genetics
9:30-9:50
Dan Bellissimo
Clinical testing and activities at the Pittsburgh Clinical Genomics and Cytogenetics Laboratories
9:50-10:00
Greg Humphreys
Improved molecular diagnostic utility of whole exome testing
10:00-10:10
Angela Verdoni
The clinical utility of combined whole exome sequencing and microarray analysis in hypertrophic cardiomyopathy
10:10-10:20
Maureen May
Impact of next generation sequencing on clinical testing for hereditary breast and ovarian cancer predisposition
10:20-10:30
Jon Adler
The importance of genetics in sporadic and familiar forms of pulmonary fibrosis
10:30-11:00Break
11:00-12:00Scientific Session 2
11:00-11:30
Mary Marazita
Research activities at the Center for Craniofacial and Dental Genetics
11:30-11:45
Hyun Jung Park
Computational models for identifying tumorigenic mechanisms and functions at the post-transcriptional level
11:45-12:00
Philip Empey
Pharmagenetics program at UPMC
12:00-1:00Lunch
1:00-2:30Scientific Session 3
1:00-1:30
Annerose Berndt
The UPMC Genome Center
1:30-1:45
Eleanor Feingold
Recent highlights from the Department of Human Genetics
1:45-2:00
Randall Brand
The UPMC hereditary GI tumor program
2:00-2:15
Samantha Rosenthal
CREBRF variation, obesity, and diabetes in a Samoan population
2:15-2:30
Sarah Munyoki
High-resolution transcriptome analysis of the primate testis by single cell RNA sequencing
2:30-4:00Poster Session
4:00-5:00Scientific Session 4
4:00-4:15 John Shaffer
Research initiatives at the Center for Oral Health Research in Appalachia
4:15-4:30
Elena Kessler
Development and outcomes of the multidisciplinary pediatric cancer predisposition clinic in its first year
4:30-4:45
Eric Goetzman
Dehydrogenase activities of VLCAD and LCAD in mouse liver
4:45-5:00
Eve Karloski
The impact of genetic counseling on patient engagement and participation in health coaching programs
5:00Adjourn

 

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