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15th Annual Biomedical Research Symposium

Germline Predisposition to Cancer: From Gene Discovery to Clinical Implementation


Friday, October 4, 2019
8:00 a.m. – 5:30 p.m.
Marlo Thomas Center Auditorium
Room IA-1011
St. Jude Children's Research Hospital
Memphis, TN 38105

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Program Overview

Fifty years ago witnessed the discovery of Li-Fraumeni Syndrome (LFS), one of the first examples of hereditary predisposition to cancer. Ten years later, a novel tumor suppressor protein p53 was identified, and subsequently it was learned that pathogenic germline variants in TP53, the gene encoding p53, are responsible for LFS.

With these seminal breakthroughs has emerged a new era in our understanding of the heritable nature of cancer, where there are now more than 100 different cancer predisposing genes and associated genetic syndromes. Furthermore, recent large-scale genomic sequencing efforts have determined that at least 10-15% of children with cancer develop the disease due to an underlying predisposition. Undoubtedly, this proportion will expand as new cancer predisposing genes are identified and the functions of non-coding regions of the genome better defined. Along with these genetic discoveries, our understanding of cancer biology and treatment has greatly expanded. Nevertheless, many unanswered questions remain.

The 15th St. Jude Children’s Research Hospital Biomedical Symposium will bring together leading experts in oncology, genetics, ethics and computational biology to discuss several exciting new discoveries and the remaining challenges in the field.

Symposium Hosts


Benjamin Levine Ebert, MD, PhD
Dana-Farber Cancer Institute, Boston
Dr. Ebert is the George P. Canellos, MD and Jean S. Canellos Professor of Medicine at Harvard Medical School and Chair of the Department of Medical Oncology at Dana Farber Cancer Institute. The primary focus of Dr. Ebert’s research is understanding the biology and treatment of clonal hematopoiesis and determining its relationship to development of myeloid leukemia and outcomes following leukemia treatment.

Richard Houlston, MD, PhD
Institute of Cancer Research, London
Dr. Houlston is Professor of Molecular and Population Genetics and Head of the Division of Genetics and Epidemiology at the Institute of Cancer Research in London. He is also a Fellow to The Royal Society. Dr. Houlston’s research focuses on the identification and characterization of genetic susceptibility to cancer, particularly as it relates to common genetic variation through genome-wide association studies.

Gail P. Jarvik, MD, PhD
University of Washington, Seattle
Dr. Jarvik is Professor and Head of the Division of Medical Genetics at the University of Washington. Dr. Jarvik studies the genetic basis of complexly inherited diseases and has a strong interest in biomedical ethics. She also focuses on the clinical implementation of genomics.

Ben Lehner, PhD
Centre for Genomic Regulation, Barcelona
Dr. Lehner is Coordinator of the Systems Biology Programme at the Center for Genomic Regulation in Barcelona, Spain. Dr. Lehner’s research uses model organisms to study the causes of phenotypic variation among individuals, including the distribution and effects of genetic variation, somatic mutations and epigenetic differences.


Mignon Loh, MD
University of California (UCSF), San Francisco
Dr. Loh is Professor of Clinical Pediatrics in the Division of Hematology Oncology at UCSF, where she also serves as co-Leader of the Pediatric Malignancies Program in the Helen Diller Family Comprehensive Cancer Center. Dr. Loh’s research focuses on understanding how germline and somatic genetic variants influence leukemia development, as is exemplified by her seminal work in genetic predisposition to juvenile myelomonocytic leukemia.

Kelly E. Ormond, MS, CGC, LGC
Ormond is Professor of Genetics at Stanford University, where she is also Co-Director of the Master’s Program in Human Genetics and Genetic Counseling and Faculty Member of the Stanford Center for Biomedical Ethics. Ormond’s research focuses on the intersection between genetics and ethics, particularly around the translation of new genetic technologies into clinical practice.

Lea Starita, PhD
University of Washington, Seattle
Dr. Starita is the Co-Director of the Brotman Baty Advanced Technology Lab in University of Washington Seattle. The focus of Dr. Starita’s research is to understand how genetic variation influences protein function. One of her current goals is to develop high throughput assays for examining variant effects that have more robust and informative phenotypes and the ability to assess complex genotypes.

Uri Tabori, MD
Hospital for Sick Children, Toronto
Dr. Tabori is Professor of Paediatrics at the University of Toronto, where he holds the Garron Family Chair in Childhood Cancer Research. Dr. Tabori’s research examines the mechanisms underlying brain tumor development and recurrence in the context of predisposition to cancer, especially solid tumors arising from constitutional mismatch repair deficiency.


Time Event
8:00 – 8:30 a.m. Registration, Coffee and Refreshments
8:30 – 8:40 a.m. Opening remarks – Jun J. Yang, PhD
8:40 – 9:30 a.m. Uri Tabori, MD
Hospital for Sick Children/SickKids
"Replication Repair Deficiency and Hypermutation: From a Rare Childhood Syndrome to Novel Therapies"
Faculty Host: Paul Northcott, PhD
9:30 – 10:20 a.m.

Mignon Lee-Cheun Loh, MD
University of California San Francisco
"Juvenile Myelomonocytic Leukemia: Learning from Children in a World Without Walls"
Faculty Host: Jeffrey Klco, MD, PhD

10:20 – 10:35 a.m. Coffee Break
10:35 – 11:25 a.m. Richard Houlston, MD, PhD
Institute for Cancer Research-London (ICR)
“Decoding Susceptibility to Leukemia” 
Faculty Host: Zhaoming Wang, PhD
11:25 a.m. – 12:15 p.m.

Benjamin Levine Ebert, MD, PhD
Dana Farber
"Clinical and Biological Consequences of Clonal Hematopoiesis"
Faculty Host: Esther Obeng, MD, PhD

12:15 – 1:30 p.m. Lunch (speakers at assigned tables with trainees)
1:30 – 2:20 p.m.

Kelly E. Ormond, MS, CGC, LGC
Stanford University
"Consent and Disclosure of Germline Genetic Test Results"
Faculty Host: Liza-Marie Johnson, MD, MPH, MSB

2:20 – 3:10 p.m.

Gail P. Jarvik, MD, PhD
University of Washington-Seattle
"Challenges in Genomic Medicine"
Faculty Host: Larissa Furtado, MD

3:10 – 3:25 p.m. Coffee Break
3:25 – 4:15 p.m.

Lea Starita, PhD
University of Washington-Seattle
"Multiplexed Functional Assays for Understanding the Effects of Genetic Variation"
Faculty Host: Chunliang Li, PhD

4:15 – 5:05 p.m.

Ben Lehner, PhD
Centre for Genomic Regulation, Barcelona
"Solving Protein Structures and Understanding Genetic Interactions Using Deep Mutagenesis"
Faculty Host: Jiyang Yu, PhD

5:05 – 5:10 p.m. Closing Remarks – Kim E. Nichols, MD
6:00 p.m. Symposium Celebration - Crosstown Concourse, 1370 Concourse Avenue.  East Atrium, 2nd Floor