Scientific Symposium

Keynote Speaker: Olga G. Troyanskaya, PhD


Olga G. Troyanskaya is a professor of computer science and the Lewis Sigler Institute for Integrative Genomics. She joined Princeton in 2003 as an assistant professor and became a full professor in 2013. She also is a consultant for the Simons Center for Data Analysis, in New York, and a visiting associate professor, Tromso University, Norway. Professor Troyanskaya received her doctorate in biomedical informatics from Stanford in 2003 and earned a bachelor’s in computer science and biology from the University of Richmond. Her professional service includes co-chair of an NHGRI workshop, “Integrating Functional Data for Connecting Genotype to Phenotype,” in 2012 and chair for the Late Breaking Research Track, Intelligent Systems for Molecular Biology (ISMB), also in 2012. She served on the steering committee for the ISMB/ECCB 2011 conference. Among her honors and awards are the 2014 Ira Herskowitz Award from the Genetic Society of America, the 2011 Overton Prize, from the International Society of Computational Biology, and the 2011 Blavatnik Award For Young Scientists (Finalist Award).

 

Agenda: Wednesday, May 22, 2019

Time Activity Location
8:00am - 8:30am Registration and Breakfast Lobby
8:30am - 9:00am Welcome & CHOP Research Institute Faculty Mentor Award Presentation
By: Beverly L. Davidson, PhD
Director, Raymond G. Perelman Center for Cellular and Molecular Therapeutics 
Chief Scientific Strategy Officer
Children’s Hospital of Philadelphia Research Institute
1100A

Session 1

9:00am - 9:20am

Making sense of big data through the lens of molecular networks
By: Kai Tan, PhD 
Associate Professor
Departments of Pediatrics, Cell & Developmental Biology, Genetics
Children’s Hospital of Philadelphia 
Perelman School of Medicine, University of Pennsylvania

1100A
9:20am - 9:40am

3D genome misconfiguration in trinucleotide repeat expansion disorders
By: Jennifer Phillips-Cremins, PhD 
Assistant Professor
New York Stem Cell Foundation - Robertson Investigator
Department of Bioengineering School of Engineering and Applied Sciences
University of Pennsylvania

1100A
9:40am - 10:00am

Variant to gene mapping via 3D Genomics for common pediatric traits
By: Struan Grant, PhD 
Professor of Pedatrics 
Perelman School of Medicine, University of Pennsylvania
Daniel B. Burke Endowed Chair for Diabetes Research
Co-Director, Center for Spatial and Functional Genomics
Divisions of Human Genetics and Endocrinology & Diabetes
Children’s Hospital of Philadelphia

1100A
10:00am - 10:10am Searching for Mechanism in an Era of Big Data
By: David Hill, MD, PhD
Attending Pysician
Division of Allergy and Immunology, Children's Hospital of Philadelphia
Instructor, Department of Pediatrics
Perelman School of Medicine at the University of Pennsylvannia
1100A
10:10am - 10:20am

RAS-MAPK and PI3K-AKT-mTOR Pathway Inhibitors in a Zebrafish Model of Lymphatic Malformations Associated with the KRASp.G12D Mutation
By: Sarah E. Sheppard, MD, PhD
Pediatrics / Medical Genetics Resident Physician
Children's Hospital of Philadelphia

1100A
10:20am - 10:35am Break  

Session 2

10:35am - 10:55am Innovation through Collaboration: From CHOP led Consortia to the NIH Kids First Data Resource Center
By: Adam Resnick, PhD 
Director, Data Driven Discovery in Biomedicine (D3b)
Center for Data Driven Discovery in Biomedicine
Children's Hospital of Philadelphia Research Institute
 
1100A
10:55am - 11:15am

Arcus: The CHOP Research Institute Data Strategy
By: Jeffrey Pennington 
Associate Vice-President & Chief Research Informatics Officer
Children's Hospital of Philadelphia Research Institute

1100A
11:15am - 11:35am Pediatric Genomic Diagnostics and the Clinical-Research Interface
By: Nancy Spinner, PhD, FACMG
Evelyn Willing Bromley Chair in Pediatric Pathology
Chief, Division of Genomic Diagnostics
Children’s Hospital of Philadelphia
Professor, Pathology of Laboratory Medicine
Perelman School of Medicine, University of Pennsylvania
1100A
11:35am - 11:45am Longitudinal Modeling Enables Genomic Discoveries in Healthy EHR-based Pediatric Populations
By: Diana Cousminer, PhD
Postdoctoral Research Fellow
Children's Hospital of Philadelphia
1100A
11:45am -  11:55am Genetic Analysis of Neuroblastoma in African-American Children
By: Alessandro Testori, MD, PhD
Postdoctoral Fellow, Human Genetics and Moloecular Biology
Childrren's Hospital of Philadelphia
1100A
11:55am - 12:40pm  Lunch Cafeteria / Open

Keynote Address

12:40pm - 12:50pm Introduction
By: Yi Xing, PhD 
Francis West Lewis Chair
Director, Center for Computational and Genomic Medicine
Children’s Hospital of Philadelphia
Professor, Pathology and Laboratory Medicine
Perelman School of Medicine, University of Pennsylvania
1100A
12:50pm - 1:50pm

Decoding the genome: deep learning approaches for uncovering molecular basis of disease
By: Olga Troyanskaya, PhD 
Professor, Department of Computer Science
Lewis-Sigler Institute for Integrative Genomics 
Princeton University

1100A
1:50pm - 2:05pm Break  

Session 3

2:05pm - 2:25pm

Elucidating transcriptome complexity using RNA-seq big data and deep learning
By: Yi Xing, PhD
Francis West Lewis Chair
Director, Center for Computational and Genomic Medicine
Children’s Hospital of Philadelphia
Professor of Pathology and Laboratory Medicine
Perelman School of Medicine, University of Pennsylvania

1100A
2:25pm - 2:45pm

Layering phenotypes to improve power and interpretation in gene localization studies
By: Laura Almasy, PhD
Professor of Genetics
Department of Biomedical and Health Informatics
Director, Biostatistics, Lifespan Brain Institute
Children's Hospital of Philadelphia
Perelman School of Medicine, University of Pennsylvania

1100A
2:45pm - 3:05pm

Complex trait mapping inferred from African Genomic Analyses
By: Sarah Tishkoff, PhD
David and Lyn Silfen University Professor
Departemnts of Genetics and Biology
University of Pennsylvannia

1100A
3:05pm - 3:15pm Tropomyosin 1 Genetically Constrains Hematopoiesis and Megakaryocyte Development
By: Christopher Thom, MD, PhD
Neonatal-Perinatal Medicine Fellow
Children's Hospital of Philadelphia
Hospital of the University of Pennsylvannia 
1100A
3:15pm - 3:25pm Synergistic Control Genes in Cancer Gene Networks as Targets for Combination Therapy
By: Yang-yang Ding, MD
Hematology / Oncology Fellow
Children's Hospital of Philadelphia
1100A
3:25pm - 3:40pm Break  

Session 4

3:40pm - 4:00pm Novel discoveries and translational research derived from “Big Data” at the Center for Applied Genomics​
By: Hakon Hakonarson, MD, PhD
Director, Center for Applied Genomics
Children's Hospital of Philadelphia Research Institute
Professor of Pediatrics
Perelman School of Medicine, University of Pennsylvania
1100A
4:00pm - 4:20pm

Long-read Sequencing in Rare Diseases
By: Kai Wang, PhD
Associate Professor
Pathology and Laboratory Medicine, Perelman School of Medicine
University of Pennsylvania, Children’s Hospital of Philadelphia

1100A
4:20pm - 4:40pm

Phenomics in Electronic Health Records
By Marylyn D. Ritchie, PhD 
Director, Center for Translational Bioinformatics, Institute for Biomedical Informatics (IBI)
Associate Director for Bioinformatics, Institute for Biomedical Informatics (IBI)
Associate Director, Center for Precision Medicine
University of Pennsylvania

1100A
4:40pm - 4:50pm Detecting Allele-Specific Alternative Splicing from Population-Scale RNA-seq Data
By: Levon Demirdjian, PhD
Postdoctoral Fellow, Ceter for Computational & Genomic Medicine
Children's Hospital of Philadelphia
1100A
4:50pm - 5:00pm High Resolution Genome-Wide Promoter-Focused Connectome Implicates Microglia Causal Genes for Alzheimer’s Disease
By: Mariana Argenziano, PhD
Postdoctoral Fellow, Division of Human Genetics
Children's Hospital of Philadelphia
1100A
5:00pm - 6:00pm Reception  Lobby

 

Scientific Symposium Planning Committee

  • Yi Xing, PhD, Chair, Professor of Pathology and Laboratory Medicine
  • Laura Almasy, PhD, Professor of Genetics
  • Mahdi Sarmady, PhD, Assistant Professor of Pathology and Laboratory Medicine
  • Kai Wang, PhD, Associate Professor of Pathology and Laboratory Medicine