A Year in Review 2018 Board of Directors

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A Year in Review 2018 Board of Directors A Year in Review 2018 Board of Directors Russell L. Carson Anthony B. Evnin, PhD Frank V. Sica NYGC Board Co-Chair Partner, Venrock Partner, Tailwind Capital Chairman, The Carson Family Charitable Trust, Co-Founder and Lee Goldman, MD, MPH Jim Simons, PhD General Partner, Welsh, Carson, Dean, Faculties of Health Sciences Chair, Simons Foundation, Chair, Anderson & Stowe and Medicine, Chief Executive, Euclidean Capital, LLC, Board Chair, Columbia University Irving Medical Center Renaissance Technologies Ivan G. Seidenberg NYGC Board Co-Chair Weslie R. Janeway Steven D. Singer Former Chair and Chief Executive Director, Finistere Charitable Foundation Partner, WilmerHale Officer, Verizon Communications Richard P. Lifton, MD, PhD Samuel L. Stanley Jr., MD Dafna Bar-Sagi, PhD President, The Rockefeller University President, Stony Brook University Professor of Biochemistry and Molecular Pharmacology and Edison T. Liu, MD Bruce Stillman, PhD Medicine, Senior Vice President and President and Chief Executive Officer, President and Chief Executive Officer, Vice Dean for Science, Chief Scientific The Jackson Laboratory Cold Spring Harbor Laboratory Officer, NYU Langone Health Tom Maniatis, PhD Craig B. Thompson, MD Dennis S. Charney, MD NYGC Scientific Director and President and Chief Executive Officer, Anne and Joel Ehrenkranz Dean, Chief Executive Officer Memorial Sloan Kettering Cancer Center Icahn School of Medicine at Mount Isidore S. Edelman Professor and Chair, Sinai, President for Academic Affairs, Department of Biochemistry and Mount Sinai Health System Gordon F. Tomaselli, MD, FAHA, Molecular Biophysics, Columbia University FACC, FHRS Founding Director, Columbia The Marilyn and Stanley M. Katz Dean, Augustine M.K. Choi, MD Precision Medicine Initiative Stephen and Suzanne Weiss Dean, Albert Einstein College of Medicine, Executive Vice President and Weill Cornell Medicine, Provost for Cheryl A. Moore Medical Affairs, Cornell University Chief Academic Officer, Montefiore Medicine NYGC President and Chief Operating Officer Kevin J. Tracey, MD Nicholas Donofrio Herbert Pardes, MD Fellow Emeritus, Executive Vice President, President and Chief Executive Officer, Executive Vice Chairman Innovation and Technology, IBM (retired) Feinstein Institute for Medical of the Board of Trustees, Research, Professor of Neurosurgery NewYork-Presbyterian Hospital John B. Ehrenkranz and Molecular Medicine, Zucker School of Medicine at Chief Investment Officer, Frank E. Richardson, MA, JD Hofstra/Northwell Ehrenkranz Partners Co-Founder and Senior Advisory Partner, Sentinel Capital Partners Institutional Founding Members Institutional Associate Members A Year in Review 2018 A Message From Leadership Pathways to Progress In 2018, the New York Genome Center (NYGC) launched a new strategic direction that leverages our core strengths in NYGC Mission genomics to advance the understanding of the genetic basis of human diseases. We have focused on our strengths in Leverage our strengths in whole genome whole genome sequencing and analysis, single-cell sequencing, genomic analysis, and development technology and bioinformatics. A critical element of our of genomic tools to advance genomic research. new scientific mission builds on the foundation of the collaborative research projects between our faculty and staff scientists with member institutions, our new Discover new insights that lead to more effective affiliates program, disease- and technology-centered therapies for patients with neurodegenerative working groups, and industry partners. disease, neuropsychiatric disease, and cancer. We are pleased to welcome our newest faculty member, David A. Knowles, PhD. David’s expertise is in the application of machine learning methods to genomic data with the goal of understanding the relationship between In support of this mission, the NYGC is DNA sequence variants and RNA splicing abnormalities – a focused on five core research areas: key challenge in understanding the functional significance of disease-associated mutations in whole genome sequences. Neurodegenerative Disease: Unlock the mysteries behind complex Simon Tavaré, PhD, who served as a Senior Associate neurodegenerative diseases that share common Faculty Member of the NYGC while Director of Cancer pathways with ALS, including Alzheimer’s, Research UK (CRUK), recently joined the Columbia University Parkinson’s and Huntington’s diseases, with an faculty and also became a Senior Associate Core Faculty early focus on Alzheimer’s disease. Member at the NYGC. Simon is co-leading our Computational Cancer Genomics Working Group along with Sohrab Shah, Neuropsychiatric Disease: PhD, who recently joined the Memorial Sloan Kettering Develop new insights into the genetic basis of autism Cancer Center faculty as Chief of Computational Oncology. and apply our learnings into other neuropsychiatric This working group is one of five new working groups formed disorders, including schizophrenia and bipolar disorder. this year to facilitate collaborative research. In this report, we highlight the progress our teams have Cancer: Advance collaborative research in cancer genomics made during the past year. With more than 50 publications in through our Polyethnic-1000 cancer initiative, the prestigious scientific journals and 26 active grants by NYGC application of novel mathematical and statistical faculty and senior scientists in 2018, the NYGC continues to approaches to cancer genomics, and the application build a reputation as an outstanding independent scientific of whole genome and RNA sequencing to the institute on the leading edge in genomic discovery. understanding, diagnosis and treatment of cancer. We are very grateful to our Board, donors, member institutions, and collaborative partners for their strong support, which Technology Innovation: propels our mission in disease-focused genomic research. Advance the development of novel genomic methods and technology, including molecular diagnostic testing, Sincerely, liquid biopsy, single-cell analysis, CRISPR gene editing, spatial transcriptomics, and other laboratory computational methods. Population Genomics: Analysis of genomic data from control population and disease cohorts with the goal of providing new insights into polygenic risk scores, statistical genetics, and the genetics of ethnic diversity. Cheryl A. Moore Tom Maniatis, PhD President and Scientific Director and Chief Operating Officer Chief Executive Officer 2 Neurodegenerative Disease Neurodegenerative disease poses one of the greatest challenges to medical science of our time. Despite decades of research of debilitating and fatal diseases like ALS and Alzheimer’s, Parkinson’s and Huntington’s diseases, scientists have yet to provide a clear path to a cure. Leveraging state-of-the-art genomic technology, along with worldwide collaborative research by scientists and clinicians, NYGC is building and sharing a large database of genomic ALS data with the research community. Our goal is to expand this to other neurodegenerative diseases to create a platform for scientific inquiries that lead to breakthrough discoveries. In 2018, achievements in this core area of Discovery of a New ALS Gene research include: The CGND and its ALS Consortium were part of the ALS Consortium Grows to 30 Member international research team, led by John Landers, PhD, at UMass Medical School, and Bryan Traynor, MD, PhD, at Institutions in Five Countries the National Institute on Aging of the National Institutes of Health, that identified KIF5A as a new gene associat- Since its inception only a few years ago, NYGC’s Center ed with ALS. The discovery, published as a cover story for Genomics of Neurodegenerative Disease (CGND) in Neuron in 2018, advances the understanding of what led by Hemali Phatnani, PhD, Director, now serves as an causes ALS and further implicates the role of cytoskeletal organizing hub of ALS data collection and analysis within defects in the axon, the long threadlike part of a nerve the research community. The result is ALS data sharing on cell, as a common factor in the disease and as a potential an unparalleled and unprecedented scale, empowering target for new drug development. an integrated worldwide approach to working toward new treatments and effective therapies for ALS. Multidimensional Gene Expression The CGND’s development of the ALS Consortium, Atlas Maps ALS Disease Progression a global collaboration of clinicians, scientists, geneticists, and computational biologists, has rapidly grown to now include 30 member institutions in five countries. Through In a collaboration that includes the Simons Foundation’s MetroNome, a data repository and visualization tool Flatiron Institute in New York, the SciLifeLab and KTH Royal developed by NYGC researchers, the CGND makes Institute of Technology in Sweden, and New York University, available to its ALS Consortium members and the larger the CGND is developing a unique atlas of gene expression scientific community an ever-growing resource of changes in ALS within distinct subpopulations of each cell genomic sequencing and clinical data. To date, over type present in the spinal cord across space and time. 3,000 genomic and clinically annotated samples from ALS Utilizing spatial transcriptomics combined with a novel patients have been sequenced and analyzed, and this computational approach, the researchers are studying both dataset, one of the largest cohorts in the world, is mouse models and spinal cord tissue sections from ALS available to all researchers. patients
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