2013-2014 IGM Seminar Speaker Series

September 3, 2014 (Mountcastle @ 2:00 pm)

Jonathan L Haines, Ph.D. (website link)
Professor and Chair, Department of Epidemiology & Biostatistics
Case Western Reserve University School of Medicine

The primary research interest of the Haines’ lab is the localization and identification of genes involved in human disease. For many diseases, this is a necessary first step in dissecting the etiology and physiology of the disease process, while for others it serves to demonstrate that genes are in fact important in the disease process.

September 17, 2014 (Darner @2:30 pm)

Jeff Mumm, Ph.D. (website link)
Associate Professor
Johns Hopkins School of Medicine, Wilmer Eye Institute

Dr. Mumm’s research includes retinal regeneration, retinal circuitry and drug discovery. In his lab, he utilizes zerbrafish to study the formation of neural circuits in the retina, as well as the regenerative capabilities of retinal cells, with the goal of developing better drugs to treat retinal diseases.

October 1, 2014 (Darner @ 2:30 pm)

Steven Salzberg, Ph.D. (website link)
Professor of Medicine and Biostatistics
McKusick-Nathans Institute of Genetic Medicine
Johns Hopkins University School of Medicine

Dr. Salzberg’s group research focuses on the development of new computational methods for analysis of DNA from the latest sequencing technologies. Over the years they have developed and applied software to many problems in gene finding, genome assembly, comparative genomics, evolutionary genomics, and sequencing technology itself.

October 29, 2014 (Mountcastle @ 2:00 pm)

Leonard Zon, M.D. (website link)
Grousebeck Professor of Pediatrics
Boston Children's Hospital / HHMI

The Zon Lab created the first animal model of a BRAF-driven cancer in 2005 with the publication of our Tg (mitf:BRAFV600E);p53-/- zebrafish melanoma model. Using this model, our lab has gone on to identify an important epigenetic regulator, SETDB1, that is amplified in some human melanomas and which accelerates melanoma onset in fish and has identified a novel approach to treat melanomas through targeting of their neural crest phenotype by repurposing an FDA-approved drug, leflunomide.

November 19, 2014 (Darner @ 2:30 pm)

Gregg Semenza, Ph.D. (website link)
McKusick-Nathans Institute of Genetic Medicine
Johns Hopkins University School of Medicine

The Semenza lab studies the molecular mechanisms underlying angiogenesis and vascular remodeling in ischemic cardiovascular disease. A major aspect of this process is the production of multiple angiogenic cytokines and growth factors in response to hypoxia/ischemia, which is mediated by the transcription factor HIF-1 (hypoxia-inducible factor 1). HIF-1 mediates vascular and progenitor cell responses to angiogenic signals, but these processes are impaired by aging and diabetes.

December 3, 2014 (Darner @ 2:30 pm)

David Hackam, M.D., Ph.D. (website link)
Watson Family Professor of Surgery in the Department of Surgery
School of Medicine of the University of Pittsburgh

The laboratory of David J. Hackam, MD, PhD focuses on understanding the mechanisms that contribute to the development of necrotizing enterocolitis (NEC) which is the leading cause of death and disability from gastrointestinal disease in newborn infants. Dr. Hackam’s lab has identified a critical role for the innate immune receptor toll-like receptor 4 (TLR4) in the pathogenesis of NEC, and has shown that TLR4 regulates the development of NEC by tipping the balance between injury and repair in the stressed intestine of the premature infant.

December 17, 2014 (Mountcastle @ 2:00 pm)

James Evans, M.D., Ph.D. (website link)
Bryson Distinguished Professor of Genetics and Medicine
Editor-in-Chief, Genetics in Medicine
University of North Carolina at Chapel Hill

Dr. Evans research interests focus primarily on the use of massively parallel DNA sequencing for gene discovery and the use of such technology for clinical diagnosis. He is also interested in attitudes towards the use of genetic information. These interests are combined in a current effort in which whole exome sequencing is being pursued in a large number of patients with a variety of indications.

January 7, 2015 (Mountcastle @ 2:00 pm)

Helen Hobbs, M.D. (website link)
Professor, University of Texas Southwestern Medical Center at Dallas

Dr. Hobbs's research is focused on defining genetic factors that influence susceptibility to metabolic disorders and heart disease. She has discovered genetic defects that elevate and that lower the levels of cholesterol and triglycerides in blood and in tissues. Her work has provided insights into cholesterol and fat metabolism and identified new drug targets for the prevention of atherosclerotic heart disease. Recently, she identified a genetic variant that predisposes to fatty liver disease, a significant medical problem.

February 18, 2015 (Mountcastle @ 2:00 pm)

Ruth Loos, Ph.D. (website link)
Professor of Preventive Medicine
Mount Sinai Hospital

Dr. Loos's primary research interests focus on the identification of genes and genetic loci contributing to the risk of obesity and related metabolic traits. She has been involved in gene discovery since 2005, when ‘genome wide association’ was introduced and has since actively contributed to many consortia that use this approach to identify genetic loci for a large number of metabolic traits. Increasingly, her gene discovery work also focuses on the identification of low frequency variants through the implementation exome - chip genotyping and sequencing projects.

March 4, 2015 (Darner @ 2:30 pm)

Ashish Kapoor, Ph.D. (website link)
Research Associate
McKusick-Nathans Institute of Genetic Medicine
Johns Hopkins University School of Medicine

Dr. Kapoor’s current research is aimed towards understanding the genetic biology of sudden cardiac death (SCD) and regulation of electrocardiographic QT interval. Genome-wide association screens performed by him (and others) for genes regulating QT interval duration, an important endo-phenotype for SCD, have identified more than two dozen candidate genes. He is characterizing one of these genes, NOS1AP, for its role in regulating QT interval using in vitro and in vivo models.

March 18, 2015 (Darner @ 2:30 pm)

James Taylor, Ph.D. (website link)
Associate Professor
Department of Biology, Johns Hopkins University

Dr. Taylor’s research is in genome informatics, the use of computational and statistical approaches to understand genomes. His ultimate goal is to achieve a complete understanding of the structure and function of genomes. Specifically, how information is encoded in genomes and how this encoding allows for precise reproducible biological processes and developmental programs, yet is harnessed by evolution to generate remarkable diversity. He is working toward this goal both through the study of genome function and evolution, and through the development of tools that support the broader genomics community.

April 22, 2015 (Mountcastle @ 2:00 pm)

Louis Kunkel, Ph.D. (website link)
Professor of Genetics and Pediatrics
Children’s Hospital Boston

The Kunkel laboratory works on understanding the pathogenesis and genetics underlying the muscular dystrophies. They are attempting therapy of the muscular dystrophies in mice through the use of adult stem cells from muscle. Recently, they have developed zebrafish models of the human dystrophies in an attempt to screen for suppressor mutations. They have also expanded their genetic research into looking at complex disease traits such as Autism and Interstitial Cystitis.

May 20, 2015 (Mountcastle @ 2:00 pm)

Josef T. Prchal, M.D. (website link)
University of Utah SOM

Dr. Prchal's research focuses on defining a molecular basis for congenital and acquired hematological disorders and translational research in myeloproliferative disorders, which are cancerous disorders of the bone marrow. His interest is in discovering the molecular basis of congenital and acquired hematological disorders. As such, he has identified a number of mutations responsible for several polycythemic disorders.

June 3, 2015 (Darner @ 2:30 pm) New Hopkins Faculty

Alexis Battle, Ph.D. (website link)
Assistant Professor
JHU, Department of Computer Science

Dr. Battle’s research focuses on the genetics of gene regulation and complex traits. They use machine learning and probabilistic models to untangle the effects of genetic variation on clinically relevant phenotypes. Working with a range of genomic data including RNA-sequencing, quantitative genetic interactions and genome-wide association studies, they are interested in constructing biologically informed models. In particular, they leverage pathways and gene-networks in identifying trait-relevant genetic factors and developing biologically interpretable models. There computational interests include graphical models, transfer learning, and structured regularization methods.

October 21, 2015 (Darner @ 2:30 pm)

Gianna Pomata, Ph.D. (website link)
Institute for the History of Medicine

Dr. Pomata’s research interests include early modern European social and cultural history, with a main focus on the history of medicine. Most recently, she has worked on the history of scientific observation, with particular attention to medical case narratives and their role in the rise of scientific empiricism. She has written on the early modern genre of historia and its significance in medicine and anatomy.