Keynote Speakers
- Evan E. Eichler, PhD
- Evan Eichler, Ph.D., is a Professor and Howard Hughes Medical Institute (HHMI) Investigator in the Department of Genome Sciences at the University of Washington School of Medicine, Seattle. Dr. Eichler has led efforts to identify and sequence normal and disease-causing structural variation in the human genome. He is a co-chair of the Structural Variation Group of the 1000 Genomes Project. He is an editor of Genome Research and has served on various scientific advisory boards for both the National Institutes of Health (NIH) and National Science Foundation (NSF). In his research, Dr. Eichler focuses on the role of duplicated regions in the human genome. Using computational and experimental approaches, he investigates the architecture of these regions and their role in evolution and disease.
- Dr. Eichler graduated with a B.Sc. Honours degree in Biology from the University of Saskatchewan, Canada, in 1990. He received his Ph.D. in 1995 from the Department of Molecular and Human Genetics at Baylor College of Medicine, Houston. After a Hollaender post-doctoral fellowship at Lawrence Livermore National Laboratory, he joined the faculty of Case Western Reserve University in 1997 and later the Department of Genome Sciences at University of Washington in 2004. He was a March of Dimes Basil O’Connor Scholar from 1998 to 2001 and was appointed as an HHMI Investigator in 2005. His awards include an American Association for the Advancement of Science Fellowship (2006) and the American Society of Human Genetics Curt Stern Award (2008). His research group provided the first genome-wide view of segmental duplications within human and other primate genomes.
- Bruce D. Gelb, MD
- Bruce D. Gelb, M.D., is the Gogel Family Professor and Director of the Child Health and Development Institute, Director of the Center for Molecular Cardiology, and Professor of Pediatrics and Genetics & Genomic Sciences at the Mount Sinai School of Medicine. Dr. Gelb is board certified in Pediatric Cardiology by the American Board of Pediatrics. He completed a pediatric residency and pediatric cardiology fellowship at Babies Hospital of Columbia-Presbyterian Medical Center and Texas Children’s Hospital at the Baylor College of Medicine, respectively. He has received the E. Mead Johnson Award from the Society for Pediatric Research (2004) and the Norman J. Siegel New Member Outstanding Science Award from the American Pediatric Society (2008). He was elected to the American Society of Clinical Investigation (2001) and the Institute of Medicine (2010). His areas of expertise are cardiovascular genetics and heart transplantation, and his clinical and research interests include genetics of congenital heart defects, Noonan syndrome and related disorders, and gain-of-function RAS signaling. Dr. Gelb developed an extensive program in genomics and gene discovery for congenital heart disease.
- The Gelb research group is focused on disease gene discovery using positional cloning/candidacy techniques and characterization of the biological roles of such genes in disease pathogenesis. The focus of the laboratory currently is on those traits that are associated with heart malformations. In the past few years, the group has identified disease genes for Char and Noonan syndromes. The group is studying the roles of these disease genes in normal developmental and homeostatic processes as well as in disease pathogenesis. They are actively studying additional human genetic traits, both simple and complex, to identify additional disease genes with a particular focus on traits with cardiovascular abnormalities. Ongoing biologic studies include site-directed mutagenesis, expression of wild type and mutant proteins in vitro and in eukaryotic cell culture, immunolocalization of proteins, creation of transgenic mice, and phenotyping of mouse models. Also, the Gelb research group is studying induced pluripotent stem cells (iPS) derived from skin fibroblasts from patients with Noonan syndrome and other RAS signaling disorders.
- Gail E. Tomlinson, MD, PhD
- Professor of Pediatrics
Division Director, Pediatric Hematology-Oncology
Interim Director, Greehey Children's Cancer Research Institute
The University of Texas Health Science Center at San Antonio - Dr. Gail Tomlinson was recruited in 2007 to the University of Texas Health Science Center at San Antonio to lead the Division of Pediatric Hematology-Oncology and currently serves as Interim Director of the Greehey Children’s Cancer Research Institute. At the GCCRI, she will focus on developing translational research studies aiming to bridge basic and clinical research.
- Dr. Tomlinson received her M.D. from George Washington University School of Medicine and her Ph.D. in Biochemistry from Duke University. She completed an internship and residency at the National Children’s Medical Center in Washington, D.C. She did a research fellowship in cancer genetics at the University of Texas M.D. Anderson Cancer Center in Houston, followed by a formal fellowship in pediatric hematology-oncology at the University of Texas Southwestern Medical Center in Dallas. She was a faculty member at the University of Texas Southwestern Medical Center from 1992 to 2006, where she held the Children’s Cancer Fund Distinguished Professorship in Pediatric Oncology Research.
- Dr. Tomlinson is board certified in pediatrics and pediatric hematology-oncology. Dr. Tomlinson’s research interests are in the genetic origins of childhood cancers, particularly tumors of the kidney and liver. She directs the national registry of children with tumors of the liver. She has served on multiple national committees focusing on advancing research in childhood cancer and has published over 120 scientific papers. She is funded by both the National Cancer Institute and the Cancer Prevention and Research Institute of Texas for continuing her work in the genomics of childhood liver tumors.