Health 2.0 STAT May 7, 2015
Details
The Role of Translational Bioinformatics (TBI) in understanding Disease Processes and in Improving Health
- a program organized in cooperation with Palladian Partners Inc. and the National Institutes of Health Biomedical Computing Interest Group (BCIG)
Translational Bioinformatics (TBI) is a rapidly emerging field associated with understanding health and disease. It focuses on the convergence of biostatistics, molecular bioinformatics, statistical genetics and clinical informatics. Those working in TBI are applying these methodologies to the increasing amount of biomedical and genomic data in order to discover new knowledge and to formulate knowledge. TBI folks also develop new medical computational tools to be used by scientists, clinicians, and patients. These tools include computer-based information systems for researchers, clinicians and patients interested in improving human health.
Introduction
Jim DeLeo, National Institutes of Health Clinical Center (NIHCC)
Abstract:
Jim will briefly describe the NIH Biomedical Computing Interest Group (BCIG) and introduce Dr. Niraj Trivedi with whom he collaborated in producing this event.
Speaker:
Jim DeLeo is a computer scientist in the NIH Clinical Center. He manages the Scientific Computing Section which develops software for biomedical data mining and clinical decision support systems and he also directs the NIH Biomedical Computing Interest Group (BCIG) that is open to everyone interested in promoting good and proper use of computing in medicine.
- Bioinformatics Approaches for Translational Medicine
Niraj Trivedi, National Human Genome Research Institute (NHGRI)
Abstract:
High throughput and bioinformatic methods used in translational medicine shall be highlighted. These methods will describe some of the techniques used by the speakers.
Speaker:
Niraj Trivedi is a bioinformatics data analyst working in the bioinformatics and scientific programming core for NHGRI. He started as a biomedical engineer studying biomedical optics during his B.S. at Boston University and M.S. at Case Western Reserve University. He then worked in industry for five years on various aspects of microarray technology. He spent time in academic labs working with various image analysis methods until he finally received his second M.S. degree in bioinformatics at Boston University before coming to NHGRI. His current research interests are within the realm of systems biology.
- Beyond the Promise of Precision Medicine
Sean Davis, National Cancer Institute (NCI)
Abstract:
There has been a great deal of hype and promise associated with the term \precision medicine." In fact, the practice of precision medicine is not new. Current applications of precision medicine and how these impact patients today will be presented.
Speaker:
Sean Davis is an engineer turned pediatric oncologist in the Center for Cancer Research, NCI, NIH. His interest is in using science at the intersection of genomics, bioinformatics, and information technology to define normal and disease biology with the goal of improving patient diagnosis and therapy.
- Towards Uncovering Markers to Assess Immune Responsiveness & Health
John Tsang, National Institute of Allergy and Infectious Diseases (NIAID)
Abstract: The immune system plays important roles in health and has been implicated in diverse diseases. However clinically useful markers of immune health and responsiveness remain sparse. This talk will illustrate how utilizing population variation, comprehensive assessment of immune parameters before and after vaccination, and computational modeling can allow us to begin to unbiasedly uncover potential markers of immune responsiveness capturing temporally stable, personal immune-states. Future directions and implications will be briefly discussed.
Speaker: John Tsang received his PhD in biophysics and systems biology from Harvard University / Massachusetts Institute of Technology and was trained in computer science, engineering and math during his studies at the University of Waterloo in Canada. He has been working on systems biology and genomics research for over a decade. John is a principal investigator at the intramural research program of NIAID/NIH where he leads a laboratory investigating systems immunology using a combination of computational, modeling and experimental approaches. He is also the founding director of computational systems biology at the Trans-NIH Center for Human Immunology (CHI), where he leads efforts to integrate and analyze of large-scale data sets to dissect the human immune system in health and disease. At the cellular level, John's lab has been using macrophages as a model to study immune cell adaptations to the environment at both the cell-population and single-cell levels.
- Use of Clinical Findings to Redefine NGS Analysis
William Bone , National Institutes of Health Undiagnosed Disease Program (UDP)
Abstract: In the National Institutes of Health Undiagnosed Diseases Program (UDP) next-generation sequencing (NGS) is used to look for genetic causes of disease. However, NGS results in thousands of genetic variants from the human reference genome for every individual who is sequenced. To help prioritize disease-causing variants a patient's clinical findings can be computationally compared to known diseases and model organism data.
Speaker: William Bone graduated from St. Mary's College of Maryland in 2012, where he studied biology and biochemistry. He came to the National Institutes of Health Undiagnosed Diseases Program (UDP) in the fall of 2012 to train in the analysis of next-generation sequencing and SNP chip data. In his time in the UDP William's main research focus has been in the use of the clinical findings of the patient to prioritize variants in the patient's Next Gen Sequencing (NGS) data.
- The Impact of Crowdfunding on Genetic Sequencing
Paul Schindler, Rare Genomics
Abstract: Rare Genomics is a non-profit that makes cutting edge research technologies and experts accessible to rare disease patients. Partnering with top medical institutions, such as Harvard, Yale, Johns Hopkins, and Stanford, Rare Genomics helps custom-design personalized research projects for diseases so rare that no organization exists to help. By providing an expert network and an online crowdfunding mechanism, RG helps families source, design, and fund personalized research projects in diseases not otherwise studied. A case study of a patient that Rare Genomics helped will be shared.
Speaker: Paul Schindler is an established non-profit leader with over ten years in community development and over eighteen years as an entrepreneur. He was previously the Founder and President of a local Maryland community organization that helped families dealing with sanctity of life, human tracking and child hunger. Earlier in his career, Paul worked at McGraw-Hill as a client analyst while developing his own company that eventually started ordering consulting services to two leading financial institutions - Capital One Bank and PNC Bank. An experienced leader and non-profit organizational development leader, Paul has a degree in International Business and a Masters in Organizational Leadership.
Health 2.0 STAT May 7, 2015