Our Scientific Advisory Board consists of a committed group of highly respected and experienced researchers, clinicians, and health industry leaders who set research priorities and vet, approve, and oversee research projects for Emily’s Entourage.
Kevin Foskett, PhD, Chair
Chair, Department of Physiology
Isaac Ott Professor of Physiology
Perelman School of Medicine, University of Pennsylvania
J. Kevin Foskett, PhD, is the Isaac Ott Professor of Physiology and Chair of the Department of Physiology in the Perelman School of Medicine at the University of Pennsylvania. He is also Professor in the Department of Cell and Developmental Biology, and a member of the Mahoney Institute for Neurosciences and the Abramson Cancer Center. Dr. Foskett has been a stalwart member of Penn Medicine for nearly 20 years. After earning his doctorate at the University of California, Berkeley, he held positions at Toronto’s Hospital for Sick Children and at the University of Toronto before coming to Penn.
Dr. Foskett’s research for over 30 years has focused on the mechanisms and regulation of ion transport and signal transduction. He has had long standing interest in exocrine epithelial ion and water transport, with a particular focus on the genetic disease cystic fibrosis, and has published extensively on various aspects of the biophysics and cell biology of CFTR and the cell biology of lung submucosal glands, the site of the primary defect in the lungs in CF. He served as a consultant to the Cystic Fibrosis Foundation in their collaboration with Aurora Biosciences/Vertex that directly led to the development of the first drug that targets the basic defect in cystic fibrosis.
Garry Cutting, MD
Professor of Pediatrics, John’s Hopkins University School of Medicine; Aetna/U.S. Healthcare Professor of Medical Genetics, John Hopkins University
Dr. Garry R. Cutting is a professor of pediatrics at the Johns Hopkins University School of Medicine. He is the Aetna/U.S. Healthcare Professor of Medical Genetics at Johns Hopkins and is also a faculty member of the McKusick-Nathans Institute of Genetic Medicine. His areas of clinical expertise include cystic fibrosis and medical genetics.
Dr. Cutting’s primary research interest is in the molecular genetics of cystic fibrosis and, more recently, elucidating modifier genes underlying variation in the severity of cystic fibrosis. He is also the director of the CFTR2 project, a worldwide collection of genotype and phenotype data on over 40,000 patients with cystic fibrosis.
After receiving his undergraduate degree in biology from the University of Connecticut, Dr. Cutting earned his medical degree from the University of Connecticut School of Medicine. He completed his residency training in pediatrics and a fellowship in medical genetics at the Johns Hopkins University School of Medicine and has remained at Johns Hopkins for his entire professional career.
Dr. Cutting is the recipient of the Paul di Sant’Agnese Distinguished Scientific Achievement Award from the Cystic Fibrosis Foundation and a MERIT award from the National Institutes of Health. He has published more than 150 peer-reviewed articles. He is director of the postdoctoral clinical genetics fellowship programs, the DNA Diagnostic Laboratory and the Genetic Translational Technology Core at Johns Hopkins.
Paul F Harron Jr Associate Professor of Medicine;
Perelman School of Medicine University of Pennsylvania; Program Director, Adult Cystic Fibrosis Program; Member, Lung Transplantation Program; Physician Leader, Advanced Lung Disease Research Group
Denis Hadjiliadis, MD, did his undergraduate studies at McGill University and completed his medical degree at the University of Toronto in 1995. He subsequently pursued training in Internal Medicine at the Mayo Clinic and Pulmonary and Critical Care at Duke University, where he also completed a Master’s of Health Sciences in 2001. He joined the faculty at the University of Toronto in 2001, after further training in Lung Transplantation and Cystic Fibrosis. He joined the University of Pennsylvania in 2005 and has been the Adult Program Director of the Cystic Fibrosis Program since 2009, while remaining active at the Penn Lung Transplant Program. He is currently the Paul F. Harron Jr. Associate Professor of Medicine, at the Perelman School of Medicine of the University of Pennsylvania.
Dr. Hadjiliadis has a very active practice in one of the largest Adult Cystic Fibrosis Programs in the country and also manages patients before and after lung transplantation, mainly with cystic fibrosis. In addition, he is the physician leader of the Advanced Lung Disease Research Group and has been the local Principal Investigator for many clinical trials. He also has been involved in many investigator initiated clinical trials in areas of susceptibility to Pseudomonas infection, inspiratory muscle strength and training in CF, use of flaxseed in CF and many others. He always has helped train many young physicians and foster their careers in cystic fibrosis
He lives with his wife and two young daughters in Malvern, PA
Allan Jacobson, PhD
Gerald L. and Zelda S. Haidak Distinguished Professor of Cell Biology and Chair of the Department of Microbiology and Physiological Systems at the University of Massachusetts Medical School
Allan Jacobson graduated from the Bronx High of Science in New York City, and obtained a B.A. in biology from Queens College (1966) and a Ph.D. in molecular biology from Brandeis University (1971). He did postdoctoral research at MIT with Dr. Harvey Lodish and joined the founding UMass Medical School faculty in 1973.
Dr. Jacobson has provided fundamental insights in three broad areas of post-transcriptional control of gene expression, one of which yielded a far reaching approach to treating genetic disorders. First, his early work pointed to a role for the mRNA poly(A) tail and poly(A)-binding protein in translation initiation, leading him to formulate the closed-loop mRNP model for the regulation of mRNA translation and decay. This model has since provided a basis for understanding multiple aspects of cytoplasmic post-transcriptional regulation in eukaryotes. Second, he established a yeast system for analysis of the sequences and factors that regulate mRNA decay rates and used it to define the nonsense-mediated mRNA decay (NMD) pathway, to characterize the roles of the three Upf proteins central to NMD regulation, and, recently, to define novel regulatory functions of the Dcp2 decapping enzyme. Third, Jacobson demonstrated that premature and normal translation termination differed mechanistically, with the greater efficiency of normal termination most likely attributable to proximal stimulatory factors associated with mRNA 3’-UTRs. The differences between premature and normal termination led Jacobson and his collaborator, Stuart Peltz, to co-found PTC Therapeutics Inc. and to focus on developing drugs with the ability to alter protein synthesis at premature stop codons to promote the insertion of specific amino acids and restore the production of full-length functional proteins. In 2014, the drug that PTC developed (ataluren/Translarna™) received EMA approval as a first-in-class medicine for the treatment of nonsense-mediated Duchenne muscular dystrophy.
Dr. Jacobson’s contributions have been acknowledged with the UMass Medical School Chancellor’s Medal for Distinguished Scholarship, a MERIT Award from the NIH, and election to the American Academy of Microbiology.
Batsheva Kerem, PhD
Professor, Hebrew University of Jerusalem
Department of Genetics
Prof. Batsheva Kerem received her B.Sc. in Biology (1979) and her Ph.D. (1986) from the Hebrew University. Her postdoctoral training was at the Hospital for Sick Children, Toronto Canada (1987-1990). Since 1990, she is a faculty member at the Department of Genetics, The Life Sciences Institute, The Hebrew University, Jerusalem, Israel. Prof. Kerem was appointed a full professor at 2003.
At the Hebrew University, she established and chaired the National Genomic Knowledge Center at the Institute of Life Sciences and served as the Head of Department of Genetics (2004-2006) and as the Head of the Authority for research students (from 2007-2011). From 2013, Prof. Kerem is the President advisor for promotion of women in science. Prof. Kerem received numerous prizes, including the Joels Senior Lectureship for Excellence in Science (1996), Teva Prize for Excellence in Human Genome (1993), Julodan Prize for Contribution to Medicine (1993), Abisch-Frenkel Prize for Excellence in Life Sciences (2003) and Emet Prize (2008). Prof. Kerem is a member of the European Molecular Biology Organization (EMBO). She serves on the editorial board of the European Journal of Human Genetics and EMBO Reports. Prof. Kerem has published over 120 papers.
Prof. Kerem has been working in CF research for already 29 years. She has been part of the group that cloned the CFTR gene. Through the years, she focused on two main CF research projects: development of therapeutic approaches for patients carrying nonsense mutations, including studies on cellular homeostatic systems affecting the response of patients to readthrough treatments. The other project focuses on developments of new therapeutic concepts for patients carrying splicing mutations/variants.
Gergely L. Lukacs, MD, PhD
Professor, Canada Research Chair, Department of Physiology and Biochemistry, McGill University
Gergely L. Lukacs, MD, PhD, is a Professor, Canada Research Chair Tier I of the Department of Physiology and Biochemistry, McGill University. Dr. Lukacs is a graduate of the Department of Physiology, Semmelweis Medical School, Budapest and received his postdoctoral training at Yale Medical School, New Haven and The Hospital for Sick Children Research Institute Toronto. In 1995 he joined the Gene Therapy Initiative and subsequently the Cell Biology and Respiratory Program at the Hospital for Sick Children Research Institute. From 2007 he is on faculty at McGill.
Dr. Lukacs’ research primarily focuses on the folding, traffic and quality control of CFTR over the past 25 years, but has also worked other plasma membrane proteins to elucidate the underlying molecular mechanism of conformational diseases and constituents of protein homeostasis network of the cell surface. As a member of the CF Translational Center, McGill and the International CFTR Folding Consortium, he is involved in the development of novel cell based and in vitro assays for the identification and mechanistic dissection of CFTR modulator molecules. He served as an adviser for the Cystic Fibrosis Foundation and Proteostasis Therapeutics.
Lynne Maquat, PhD
J. Lowell Orbison Endowed Chair and Professor, Department of Biochemistry and Biopysics, School of Medicine and Denistry; Director, University of Rochester Center for RNA Biology: From Genome to Therapeutics; Chair, University of Rochester Graduate Women in Science, University of Rochester
Lynne Elizabeth Maquat, PhD is the J. Lowell Orbison Endowed Chair, Professor of Biochemistry & Biophysics and of Oncology, Director of the Center for RNA Biology, and Chair of Graduate Women in Science at the University of Rochester in Rochester, New York, USA. After obtaining her PhD in Biochemistry from the University of Wisconsin-Madison and undertaking post-doctoral work at the McArdle Laboratory for Cancer Research in Madison, she joined the Roswell Park Cancer Institute in Buffalo, New York before moving her laboratory to the University of Rochester. Professor Maquat is known for her mammalian-cell studies of nonsense-mediated mRNA decay (NMD), which she first reported in 1981 through studies of the anemia bo-thalassemia and from which she subsequently discovered the pioneer round of protein synthesis, the exon-junction complex (EJC), and how the EJC marks messenger (m)RNAs for a first quality-control round of protein synthesis that largely occurs as newly synthesized mRNAs leave the nucleus in which they are synthesized and enter the cytoplasm. She continues to make seminal contributions on mechanisms of NMD and on how NMD serves not only as a quality-control mechanism but as a molecular value that enables cells to adapt to changing environments.
Professor Maquat additionally continues to work on another pathway she discovered and named Staufen-mediated mRNA decay (SMD). Her work on SMD has defined new roles for long non-coding RNAs and short interspersed elements (SINEs) in humans and rodents, unveiling the complexities of RNA interactions with other RNAs that comprise important post-transcriptional gene regulatory pathways during mammalian-cell development and differentiation. Professor Maquat has served/continues to serve on editorial boards including RNA, Mol. Cell Biol., RNA Biol., Methods, and Mobile DNA, as an elected Director, Treasurer/Secretary and President of the international RNA Society, as a member of the Public Information Committee of the American Society for Cell Biology, and as chair of U.S. National Institutes of Health study section. She is an elected Fellow of the American Association for the Advancement of Science (2006), an elected Member of the American Academy of Arts and Sciences (2006) and the National Academy of Sciences (2011), and a Batsheva de Rothschild Fellow of the Israel Academy of Sciences and Humanities (2012-3). Professor Maquat was awarded the William C. Rose Award from the American Society for Biochemistry and Molecular Biology (2014) for research and mentoring, in particular advocacy for women in science. In 2015, she received a Canada Gairdner International Award for uncovering the mechanism of NMD and its importance to normal and disease-associated gene expression.
Steven M Rowe, MD, MSPH
Professor, Department of Medicine (Pulmonary and Critical Care), Pediatrics, Cell Development and Integrative Biology; Director, Gregory Fleming James Cystic Fibrosis Research Center; Director, UAB Cystic Fibrosis Center and CF Transition Clinic; Director, CFF Therapeutics Development Network, Center for CFTR Detection
Dr. Rowe is an accomplished academic physician scientist – a pioneer in the field of personalized therapeutics for CF, cutting-edge discovery in airway disease biology, and translational research in COPD. Dr. Rowe is a respected international authority in the design and conduct of clinical trials targeting the basic CF defect, and has made key advances in the measurement and interpretation of CFTR function in humans and animals. In a related effort, Dr. Rowe has advanced both the molecular and clinical understanding of suppression of premature termination codons, representing an exciting strategy for treatment of genetic diseases caused by nonsense mutations, which is responsible for ~10% of all genetic diseases. Dr. Rowe has discovered that COPD patient’s exhibit ‘acquired CFTR dysfunction’ through a pathway that causes delayed mucociliary clearance and confers chronic bronchitis. The approach establishes how a single gene in a rare disorder can contribute to the 3rd leading cause of death and has led to new efforts by his group to evaluate CFTR modulators in patients with chronic bronchitis, potentially leading to a new paradigm for COPD treatment. Dr. Rowe co-invented one-micron resolution optical coherence tomography that captures 3D imaging in real-time at the cellular level. The technique is highly sensitive to the epithelial function of airway tissues and can provide simultaneous and non-invasive measurements of the functional microanatomy of the airway surface, significantly advancing our understanding of airway disease pathogenesis. Miniaturization currently in progress will allow the first in vivo measurements of epithelial function.
Steven M. Rowe was born in Baton Rouge, LA in May 1972. He received his BA degree from University of Virginia in 1994, an MD from Vanderbilt University in 1998 and a MSPH from the University of Alabama at Birmingham in 2005.
Ted J Torphy, PhD
Chief Scientific Officer, BioMotiv; Board Chairman, Cystic Fibrosis Foundation Therapeutics, Inc.
Ted J. Torphy, PhD, is the Chief Scientific Officer for BioMotiv, the for-profit arm of The Harrington Project, the mission of which is to accelerate the translation of academic discoveries into medicines. Since 2004 Dr. Torphy has also chaired the board of the Cystic Fibrosis Foundation Therapeutics, Inc. During this period the Foundation introduced the venture philanthropy model of co-investing with biotechnology and pharmaceutical companies to bring breakthrough therapies to individuals with cystic fibrosis, including KALYDECO® and ORKAMBITM, the first treatments that correct the fundamental defect causing cystic fibrosis.
Before joining BioMotiv Dr. Torphy spent 30 years in the pharmaceutical industry, working at SmithKline Beecham and Johnson & Johnson. His focus was on drug discovery and non-clinical development of both small molecules and biologics in the Cardiovascular, Metabolic, Pulmonary, Renal and Inflammatory Diseases therapeutic areas. During this period he was instrumental in the discovery and development of multiple marketed products, including SIMPONI®, STELERA® and SYLVANT®. Dr. Torphy holds a B.S. degree in Pharmacy from the University of Wisconsin and a Ph.D. in Pharmacology and Toxicology from West Virginia University. He completed his postdoctoral training at the University of California, San Diego.
Alan S. Verkman, MD, PhD
Professor of Medicine & Physiology
Alan S. Verkman is Professor of Medicine and Physiology at the University of California, San Francisco. Dr. Verkman received undergraduate degrees at M.I.T., a Ph.D. in physics at Harvard University and an M.D. at Harvard Medical School. His clinical training in Internal Medicine was done at the Brigham and Womens Hospital in Boston and in Nephrology at UCSF. He directs a large research group funded by 6 NIH grants, including MERIT awards, as well as grants from foundations and industry. He has authored more than 500 journal articles and 130 reviews, holds more than 25 patents, and is a recognized authority in membrane transporter physiology. Dr. Verkman’s research is focused on the biology of aquaporin water channels and CFTR chloride channels in cystic fibrosis, and the development of novel fluorescence methodology to study diffusion and protein-protein interactions in living cells. In the cystic fibrosis field, Dr. Verkman directs an NIH P30 Core Center and CF Foundation Research Development Program program grants. His interest in CF is in lung pathogenesis mechanisms and small molecule therapeutics. Dr. Verkman was the recipient of the inaugural Robert J. Beall CF Therapeutics Development Award in 2015 for his pioneering work in correctors and potentiators for treatment of CF.
David B. Weiner, PhD
Executive Vice President, The Wistar Institute; Director – Wistar Vaccine Center; W.W. Smith Charitable Trust Professor in Cancer Research
Preeminent immunologist and vaccine expert, David B. Weiner, Ph.D., is executive vice president of The Wistar Institute, director of the Wistar Vaccine Center, and the W. W. Smith Charitable Trust Professor in Cancer Research. Dr. Weiner directs a translational research laboratory in the area of Molecular Immunology. His group is one of the pioneering research teams in establishing the field of DNA vaccines and immune therapies. Important reports from his lab include the first DNA vaccine studied for HIV as well as for cancer immune therapy, the early development of DNA encoded genetic adjuvants including the particularly relevant IL-12, advances in gene optimization, and advances in electroporation technologies resulting in improved gene delivery among others. His group worked with collaborators to become the first to move DNA technology into human study. His laboratory’s work helped revitalize the field through advancement of new synthetic DNA design and modification of EP delivery approaches resulting in potent immune induction as well as the first successful Phase IIb DNA efficacy study (for HPV immune therapy) in humans.
Weiner is the recipient of numerous honors including election as a fellow to both the American Association for the Advancement of Science in 2011 and the International Society for Vaccines in 2012. He is the recipient of the NIH Director’s Transformative Research Award and received the Vaccine Industry Excellence Award for Best Academic Research Team in 2015 at the World Vaccine Congress. Weiner was honored with the prestigious Hilleman Lectureship in 2015 at the Children’s Hospital of Philadelphia Grand Rounds session and received a Stone Family Award from Abramson Cancer Center for his groundbreaking work on DNA vaccines for cancer immune therapy.
In March 2016, Weiner returned to Wistar from his position at The University of Pennsylvania School of Medicine as professor of Pathology and Laboratory Medicine. From 1990 to 1993, Weiner held a joint position as assistant professor of Pathology and Laboratory Medicine at The Wistar Institute and the University of Pennsylvania School of Medicine.
Weiner graduated with a B.S. in biology from SUNY at Stony Brook, in Stony Brook, N.Y., a M.S. in biology from the University of Cincinnati and a Ph.D. in developmental biology from the University of Cincinnati College of Medicine.