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Artificial Intelligence and Genomics: Powerful Tools in Pre- and Postnatal Decision Making

Description

Artificial intelligence (AI) systems are transforming the practice of medicine. Connecting genotype to phenotype, predicting regulatory function, and classifying mutation types are all areas in which harnessing the vast genomic information from a large number of individuals can lead to new insights. Combining genomic information with information extracted from medical records and deep phenotypes extracted from medical photographs makes the technology even more powerful. In this session, experts will review cutting-edge AI and deep learning technology which is changing the ways of pre- and postnatal decision making in the world of genomic medicine.

Contributors

  • Christian Schaaf, MD, PhD

    Christian is the medical director and department chair of the Institute of Human Genetics at the University of Heidelberg. He is also a visiting professor at the Baylor College of Medicine and Jan and Dan Duncan Neurological Research Institute in Houston (USA). He studies the genetic causes of neurodevelopmental and neuropsychiatric disorders. His work led to the discovery of multiple new disease genes, and two disorders have been named after him: Schaaf-Yang syndrome and Bosch-Boonstra-Schaaf Optic Atrophy syndrome. Christian’s groundbreaking work has been recognized with many awards, including a Doris Duke Clinical Scientist Development Award, the William K. Bowes Award for Medical Genetics by Harvard Medical School, the inaugural Seldin-Smith Award for Pioneering Research by the American Society for Clinical Investigation, and the Wilhelm Vaillant Award. Christian has authored four books, including a major textbook of medical genetics that has been translated into several languages. He is a passionate teacher and educator. Most importantly, Christian is an advocate for his patients. He empowers families by helping them understand what human genetics has to offer in patient care, management, counseling, and family planning. Together with family support organizations, Christian works tirelessly towards care plans and therapeutic opportunities that will improve the quality of life of those affected with neuropsychiatric disease.

  • Peter N. Robinson, MD, MMSc.

    Peter Robinson is Professor of Computational Biology at the Jackson Laboratory for Genomic Medicine, Farmington, CT. Previously, Peter was Professor for Medical Genomics at the Charité Universitätsmedizin Berlin, which is the largest academic hospital in Germany and was adjunct professor for Bioinformatics in the Department of Mathematics and Computer Science of the Free University of Berlin, one of Germany’s leading research universities. Peter has degrees in Mathematics, Medicine, and Computer Science, and has practiced as a pediatrician in Berlin, where he had full certification as a Pediatrician as well as a “Habilitation” in human genetics (roughly: a recognition of research achievements similar to a PhD as well as a formal qualification to teach a subject at a German university). Peter’s research career initially involved molecular genetics projects supported by the Deutsche Forschungsgemeinschaft (DFG) and the European Commission’s FP7 program. His research group initially characterized Mendelian disease-associated genes including CA8 and PIGV, and characterized a novel mode of pathogenesis in a mouse model of Marfan syndrome, and successfully tested a proof of principle therapeutic concept. The central research theme of Peter’s career since 2004 has been the development of computational resources and algorithms for the study of human disease; Peter’s group leads the development of the Human Phenotype Ontology (HPO), which provides comprehensive bioinformatic resources for the analysis of human diseases and phenotypes, offering a computational bridge between genome biology and clinical medicine. The HPO has been adopted by major international projects such as the NIH Undiagnosed Diseases Network and Genomic England’s 100,000 Genomes project, and has become the de facto standard for computational phenotype analysis in rare disease. Peter’s group has developed algorithms for genomics research involving ChIP-seq and NGS-based T-Cell Receptor profiling, as well as translational research and diagnostics by whole-exome and whole-genome sequencing.

  • Peter Michael Krawitz, MD, PhD.

    Peter Krawitz studied medicine and physics in Munich, Germany. After
    theoretical work on Boolean networks at the institute of Systemsbiology in
    Seattle, he continued with a postdoc at the Max Planck Institute for Molecular
    Genetics in Berlin. Also in
    Berlin, he got board certified for Medical Genetics at Charité University
    medicine. In 2017 he established the Institute for Genomic Statistics and
    Bioinformatics at the University Bonn, where he develops phenotype driven
    approaches for variant interpretation.

  • Matthew Might, PhD.

    Dr. Matthew Might has been the Director of the Hugh Kaul Precision Medicine Institute at the University of Alabama at Birmingham (UAB) since 2017. At UAB, Dr. Might is the Hugh Kaul Kaul Endowed Chair of Personalized Medicine, a Professor of Internal Medicine and a Professor of Computer Science. At UAB, Dr. Might's NIH and philanthropically funded research focuses on precision prevention, diagnosis and therapeutics across rare disease, cancer and common/chronic conditions. A principal theme in his research is the use of computer and data science to enhance clinical and academic medicine.From 2016 to 2018, Dr. Might was a Strategist in the Executive Office of the President in The White House. At The White House, Dr. Might worked primarily on President Obama's Precision Medicine Initiative with both the NIH and the Department of Veterans Affairs. And, in 2015, Dr. Might joined the faculty of the Department of Biomedical Informatics at the Harvard Medical School. At Harvard, Dr. Might's research focuses on rare disease discovery and diagnosis, and on the development of personalized therapeutics for rare disease.Dr. Might is co-founder and Chief Scientific Officer of NGLY1.org, a non-profit dedicated to finding treatments for NGLY1 deficiency, and he was a co-founder and Scientific Advisor to Pairnomix, a start-up which identifies potential patient-specific therapies for rare disorders -- and genetic epilepsies in particular. Q State Biosciences acquired Pairnomix in October 2018 and Dr. Might remains a Scientific Advisor.Dr. Might received his B.S. (2001), M.S. (2005) and Ph.D. (2007) in computer science from Georgia Tech.Dr. Might tweets from @mattmight and blogs at blog.might.net.

  • Iman Hajirasouliha, PhD.

    Iman Hajirasouliha is Assistant Professor of Computational Genomics at the Institute for Computational Biomedicine at Weill Cornell Medicine of Cornell University and a member of the Englander Institute for Precision Medicine and the Meyer Cancer Center, New York, USA. He completed a Postdoctoral Scholarship at the Computer Science Department, Stanford University, and a Simons Research Fellowship at the University of California, Berkeley. His research focuses on computational genomics, computational digital pathology, IVF, large-scale sequence analysis, and characterizing somatic variations in cancer. Iman received his B.Sc. in Computer Engineering from Sharif University and his M.Sc. in Computing Science from Simon Fraser University (SFU). He obtained his Ph.D. with Exceptional Recognition from SFU and also held a postdoctoral appointment at Brown University. During his Ph.D., Iman was also a student collaborator at Canada's Michael Smith Genome Sciences Centre and a visiting scholar at the Department of Genome Sciences, University of Washington. Iman received an NSERC Alexander Graham Bell Canada Graduate Scholarship (CGS-D), the best paper award at ISMB-HitSeq 2011, an NSERC Postdoctoral Fellowship and a Simons-Berkeley Research Fellowship. He is on the program committee of several bioinformatics conferences, including ISMB and RECOMB-CCB. Link: www.imanh.org

March 19, 2020
Thu 1:30 PM CDT

Duration 2H 0M

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