Cystic Fibrosis: From Gene Discovery to Basic Biology to Precision Medicines

2018 Warren Alpert Foundation Prize Symposium

In honor of Francis Collins, Paul Negulescu, Bonnie Ramsey, Lap-Chee Tsui, Michael Welsh for pioneering contributions to the discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene and to the subsequent research that led to the development of transformational precision medicines to treat the underlying cause of cystic fibrosis.

Francis Collins

Francis Collins | 2018 Recipient

Francis S. Collins, M.D., Ph.D. was appointed the 16th Director of the National Institutes of Health (NIH) by President Barack Obama and confirmed by the Senate. He was sworn in on August 17, 2009. On June 6, 2017, President Donald Trump announced his selection of Dr. Collins to continue to serve as the NIH Director. In this role, Dr. Collins oversees the work of the largest supporter of biomedical research in the world, spanning the spectrum from basic to clinical research.

Dr. Collins is a physician-geneticist noted for his landmark discoveries of disease genes and his leadership of the international Human Genome Project, which culminated in April 2003 with the completion of a finished sequence of the human DNA instruction book. He served as director of the National Human Genome Research Institute at NIH from 1993-2008.

Before coming to NIH, Dr. Collins was a Howard Hughes Medical Institute investigator at the University of Michigan. He is an elected member of the National Academy of Medicine and the National Academy of Sciences, was awarded the Presidential Medal of Freedom in November 2007, and received the National Medal of Science in 2009.

Paul Negulescu

Paul Negulescu | 2018 Recipient

Dr. Negulescu received both his B.S. and Ph.D. from U.C. Berkeley in Physiology and carried out post-doctoral work at U.C. Berkeley and U.C. Irvine in the areas of epithelial biology, biophysics and immunology.

Following post-doctoral work, Paul joined Aurora Biosciences, a San Diego Company whose founders included Roger Tsien, in 1996. Paul joined as one of the first employees and grew with the Company to become Senior Vice President of Discovery Biology.  Paul began working on cystic fibrosis while at Aurora and played an important role in establishing the foundation of a more than 20-year journey in CF research and drug discovery.

When Vertex acquired Aurora in 2001, Paul was responsible for integrating Aurora’s research into Vertex, including transitioning the CF Program to Vertex.  Since 2003, Paul has led the Vertex San Diego research site. During that time the San Diego team has discovered over 10 novel compounds, including the first CFTR modulators to enter clinical development. Three of these compounds, ivacaftor, lumacaftor and tezacaftor are the only approved medicines to treat the underlying cause of cystic fibrosis.  Additional compounds are currently in clinical development that could treat up to 90% of people with CF.

Bonnie Ramsey

Bonnie Ramsey | 2018 Recipient

Bonnie Ramsey MD is Professor and Vice Chair for Research in the Department of Pediatrics and holds the Endowed Chair in Cystic Fibrosis at the University of Washington School of Medicine.  She is also the Director of the Center for Clinical and Translational Research (CCTR) at Seattle Children’s Research Institute and is the co-PI of the University of Washington Institute of Translational Health Sciences (ITHS) supported by the NCATS Clinical Translational Science Award (CTSA). She is an elected member of the National Academy of Medicine

Dr. Ramsey received her BA from Stanford University in 1972 and her MD from Harvard Medical School in 1976. After pediatric residency training at Boston Children’s Hospital, she moved Seattle Children’s in 1978 first as a resident and fellow and then became an attending physician in 1980. Her career has focused on clinical care and research in the field of Cystic Fibrosis (CF). She is internationally recognized for her work in developing new therapies for patients with CF. She is also interested in the ethics of pediatric clinical research and has served on two Institute of Medicine committees focused on this topic.

Her primary research interest has been better understanding Pseudomonas aeruginosa (Pa) infections in the CF airway in order to develop better therapies. Over the past 2 decades she has led a large natural history of early Pa infection in young children with CF, the Early Pa Infection Control(EPIC) study, creating one of the world’s largest data and microbiological specimen collection in this population. Since the 1990’s, she has studied the role of inhaled antibiotics in treatment of Pa infections including the development of inhaled tobramycin ( TOBI®) initially for patients with established infections and more recently for eradication of early infections.

For nearly the past two decades, Bonnie directed the Coordinating Center for the Cystic Fibrosis Foundation Therapeutics (CFFT) Development Network (TDN), a national clinical trials network that has successfully conducted therapeutic trials assisting in the development of novel treatments for patients with this disorder. Several of the drugs have reached FDA approval, significantly impacting the lives of patients with CF. She now serves as a Senior Consultant to the TDN.

Lap-chee Tsui

Lap-chee Tsui | 2018 Recipient

Professor Lap-Chee Tsui is the Founding President of the Academy of Sciences of Hong Kong, President of the Victor and William Fung Foundation, Director of Qiushi Academy for Advanced Studies and Master of the Residential College of International Campus, Zhejiang University.  He is also the University of Toronto’s Emeritus University Professor.

He is the immediate-past Vice Chancellor of The University of Hong Kong, prior to which, he was Geneticist-in-Chief at the Hospital for Sick Children in Toronto and University Professor at University of Toronto, Canada
He received his Bachelor and Master degrees from the Chinese University of Hong Kong and his PhD from University of Pittsburgh.  He is world renowned for his research work in human genetics and genomics, including the identification of the gene for Cystic Fibrosis, which is an important piece of work in defining the basic defect of the disorder and in human genetic disease research as a whole. His other contributions include the cloning and characterization of mammalian crystallin genes and a comprehensive mapping and characterization of human chromosome 7.

Professor Tsui has over 300 peer-reviewed scientific publications and 65 invited book chapters.  He is the recipient of many national/international prizes, and is a Fellow of Royal Society of Canada, Royal Society of London and Academia Sinica.  He is a Associate Member of the National Academy of Sciences USA, a Foreign Member of Chinese Academy of Sciences, and is a Canadian Medical Hall of Fame Laureate.  His other awards include 15 honorary doctoral degrees, the Orders of Canada and Ontario, and the Grand Bauhinia Medal and Gold Bauhinia Star, and Justice of the Peace from Hong Kong.

Michael Welsh

Michael Welsh | 2018 Recipient

Dr. Welsh received an MD and completed an internal medicine residency at the University of Iowa.  He trained in pulmonary medicine and research at the University of California, San Francisco and the University of Texas, Houston.  He then joined the University of Iowa as an Assistant Professor, where his clinical activies focused on pulmonary diseases.  He is currently the Roy J. Carver Professor of Internal Medicine and Molecular Physiology and Biophysics.  He directs the Pappajohn Biomedical Institute and the Cystic Fibrosis Research Center.  He is an Investigator of the Howard Hughes Medical Institute.

Dr. Welsh served as President of the American Society for Clinical Investigation and as President of the Association of American Physicians.  He has been elected to the National Academy of Medicine, the American Academy of Arts and Sciences, and the National Academy of Sciences.

He has received many awards including the Carver College of Medicine Distinguished Mentor Award, the Cystic Fibrosis Foundation Paul di Sant'Agnese Distinguished Scientific Achievement Award, the American Thoracic Society J. Burns Amberson Award, the Doris F. Tulcin Cystic Fibrosis Research Award, the American Physiological Society Walter B. Cannon Award, and the Indiana University Steven C. Beering Award.

Symposium Program

Each year the recipient(s) of the Warren Alpert Foundation Prize are recognized at a scientific symposium hosted by Harvard Medical School.

Featured Speakers include:

Francis Collins, MD, PhD

Director, National Institutes of Health

Positional Cloning in Medieval Times (1989)

Paul Negulescu, PhD

Senior Vice President, Research, Vertex Pharmaceuticals Incorporated

Fixing CFTR

Bonnie Ramsey, MD

Vice Chair and Endowed Professor of Pediatrics, University of Washington School of Medicine. Director, Center for Clinical and Translational Research, Seattle Children’s Research Institute

Journey from Bench to Bedside –The Joys and Challenges of Cystic Fibrosis Translational Research

Michael Welsh, MD

Professor, Internal Medicine and Molecular Physiology and Biophysics, University of Iowa Investigator HHMI, Director, Pappajohn Biomedical Institute

What Does CFTR Do and How Do Mutations Cause Cystic Fibrosis?

Pamela Davis, MD, PhD

Dean, School of Medicine, and Senior Vice President for Medical Affairs, Case Western Reserve University

Cystic Fibrosis - a blueprint for future genetic diagnosis and treatment

Jay Rajagopal, MD

Professor of Medicine, Center for Regenerative Medicine, Massachusetts General Hospital HHMI Faculty Scholar

A New Cellular Narrative of Lung Disease

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Past Symposia

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I am truly honored to be a recipient of the Alpert Award. It is especially meaningful to be recognized by my colleagues for discoveries that helped define the biology of the CTLA-4 and PD-1 pathways. The clinical translation of our fundamental understanding of these pathways illustrates the value of basic science research, and I hope this inspires other scientists.
- Arlene Sharpe

Arlene Sharpe | 2017 Recipient

Dr. Sharpe received her A.B. from Harvard University, where she did undergraduate thesis research in the laboratory of Dr. Jack Strominger.  She received her M.D. and Ph.D. degrees from Harvard Medical School where she did PhD thesis research on reovirus pathogenesis in the laboratory of Dr. Bernard Fields. She completed residency training in Pathology at Brigham and Women’s Hospital and postdoctoral research in the laboratory of Dr. Rudolf Jaenisch at the Whitehead Institute.

She currently is the George Fabyan Professor of Comparative Pathology, Head of the Division of Immunology, and Interim Co-Chair of the Department of Microbiology and Immunobiology at Harvard Medical School. She is a member of the Department of Pathology at Brigham and Women’s Hospital, an Associate Member at the Broad Institute of MIT and Harvard, and Leader of the Cancer Immunology Program at the Dana-Farber/Harvard Cancer Center. Dr. Sharpe is the Co-Director of the Evergrande Center for Immunologic Diseases at Harvard Medical School and Brigham and Women’s Hospital. She has served as a member and chair of the NIH Hypersensitivity, Autoimmunity and Immune-mediated diseases (HAI) study section and is currently a member of NIAID Council. She is also the President of the American Association of Immunologists.

Dr. Sharpe’s functional analysis of costimulatory pathways regulating T cell activation has led to understanding of (1) the roles of B7-1 and B7-2 as positive regulators through CD28 and (2) negative regulators through CTLA-4, and (3) the role of PD-L1 and PD-L2 as negative regulators through PD-1. This functional characterization has provided critical translational insights that underpinned development of immunotherapies for cancer, autoimmune diseases, and transplant rejection.

Dr. Sharpe’s laboratory currently investigates the roles of T cell costimulatory and coinhibitory pathways in regulating T cell tolerance and effective antimicrobial and antitumor immunity, and translating fundamental understanding of T cell costimulation into new therapies for autoimmune diseases and cancer. Dr. Sharpe has published over 300 papers and was listed by Thomas Reuters as one of the most Highly Cited Researchers (top 1%) in 2014 and 2015 and a 2016 Citation Laureate. She received the William B. Coley Award for Distinguished Research in Tumor immunology in 2014 for her contributions to the discovery of PD-1 pathway.

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