Nuestro Consejo Asesor Científico está formado por un grupo comprometido de investigadores, médicos y líderes de la industria de la salud altamente respetados y experimentados que brindan orientación sobre las prioridades estratégicas de investigación para Emily's Entourage.
Presidente del Departamento de Fisiología; Isaac Ott Catedrático de Fisiología, Facultad de Medicina Perelman, Universidad de Pensilvania
J. Kevin Foskett, PhD, es profesor de fisiología Isaac Ott y presidente del Departamento de Fisiología de la Facultad de Medicina Perelman de la Universidad de Pensilvania. También es profesor en el Departamento de Biología Celular y del Desarrollo y miembro del Instituto Mahoney de Neurociencias y del Centro Oncológico Abramson. El Dr. Foskett ha sido un miembro incondicional de Penn Medicine durante casi 20 años. Después de obtener su doctorado en la Universidad de California, Berkeley, ocupó cargos en el Hospital para Niños Enfermos de Toronto y en la Universidad de Toronto antes de llegar a 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 (CF), 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 CF.
Professor of Biochemistry/Molecular Biology at the Faculty of Sciences, University of Lisboa (Portugal) and Group Leader at the Biosystems & Integrative Sciences Institute (BioISl)
Margarida D. Amaral, PhD, is a Full Professor of Biochemistry/ Molecular Biology at the Faculty of Sciences, University of Lisboa (Portugal) and Group Leader at the Biosystems & Integrative Sciences Institute (BioISl). For over 20 years, her research career has been dedicated to the basic and translational research of cystic fibrosis (CF).
Dr. Amaral is an alumna of European Molecular Biology Laboratory and of the Gulbenkian Institute of Science. She is also a member of the European Molecular Biology Organization and the Portuguese Academy of Sciences. Dr. Amaral has received multiple awards, including the Pfizer-SCML Award for Basic Biomedical Research and the Annual Award of the European Cystic Fibrosis Society. The overall goal of Dr. Amaral’s research is to understand the molecular and cellular mechanisms of CF and to translate this knowledge into the benefit of patients. She has authored more than 170 international papers.
James C. and Elizabeth T. Lee Endowed Chair of Biochemistry; Professor and Chair of the Department of Biochemistry and Molecular Genetics in the Heersink School of medicine at the University of Alabama at Birmingham (UAB)
Dr. Bedwell serves as the Co-Director of the UAB Structural Biology Program and as Associate Director of the Gregory Fleming James Cystic Fibrosis Research Center. Dr. Bedwell is also an Editorial Board Member for the Journal of Biological Chemistry.
The major goal of Dr. Bedwell’s lab is to develop therapeutic strategies to treat genetic diseases caused by nonsense mutations. His team uses a combination of genomics, genetics, biochemistry, and cell biology to better understand the molecular details of translation termination in order to develop viable therapeutic strategies aimed at suppressing nonsense mutations and restoring the expression of full-length, functional proteins.
One disease currently under active investigation is cystic fibrosis (CF). Roughly 10% of CF patients carry a nonsense mutation in the CFTR gene. Dr. Bedwell’s group has participated in the identification of functionally distinct compounds that suppress termination at nonsense mutations in the CFTR gene and are examining these so-called “readthrough” agents in various experimental models. They have also identified the amino acids that become inserted during the suppression of many nonsense mutations in mammalian cells and are using that information to develop strategies to enhance the CFTR activity restored by nonsense suppression using CFTR correctors and potentiators.
Other diseases that Dr. Bedwell’s lab is using to study the utility of this approach include neurofibromatosis, FOXG1 deficiency, Rett syndrome, and Hurler syndrome. The ultimate goal of this approach is to provide an effective treatment for patients with a range of genetic diseases caused by nonsense mutations.
Professor, Microbiology and Immunology, Geisel School of Medicine at Dartmouth College, Associate Director, DartCF Research and Development Program in Cystic Fibrosis at Dartmouth
Dr. Bomberger has been active in the cystic fibrosis (CF) research community for over 15 years, participating in many national committees and leading local CF programs. She currently chairs the CF Foundation’s Infection Research Initiative and the Best Junior Investigator Basic Science Award at the annual NACFC, as well as serves on the NACFC program planning committee and research training study section for the CFF. Dr. Bomberger has mentored a number of CF scientists and physician scientists on CFF fellowships and transition awards and is dedicated to training the next generation of CF scientists.
Dr. Bomberger recently joined the faculty at the Geisel School of Medicine at Dartmouth, after starting her independent research program at the University of Pittsburgh. Utilizing her training in epithelial cell biology and microbiology as a foundation, the Bomberger laboratory studies host-pathogen interactions in the lung, focusing on the modulation of airway epithelial cell biology by respiratory pathogens and the pathogen’s response to the host. Her long-term research goals are to elucidate the cellular and molecular mechanisms whereby CF pathogens and respiratory viruses synergize to impact lung disease and, ultimately, identify new therapeutic approaches to control combined chronic P. aeruginosa e infecciones por virus respiratorios en personas con FQ.
Paul F Harron Jr Associate Professor of Medicine; Perelman School of Medicine University of Pennsylvania; Program Director, Adult Cystic Fibrosis Program; Miembro, Programa de Trasplante de Pulmón; Médico Líder, Grupo de Investigación de Enfermedades Pulmonares Avanzadas
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 (CF). 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 CF. In addition, he is the médico líder del Grupo de Investigación de Enfermedades Pulmonares Avanzadas y ha sido el investigador principal local de muchos ensayos clínicos. También ha estado involucrado en muchos ensayos clínicos iniciados por investigadores en áreas de susceptibilidad a la infección por Pseudomonas, fuerza de los músculos inspiratorios y entrenamiento en FQ, uso de linaza en FQ y muchos otros. Siempre ha ayudado a formar a muchos médicos jóvenes y a fomentar sus carreras en la FQ.
Senior Lecturer in Molecular Physiology and Head of CF Gene Editing Lab, Department of Physiology; School of Medicine, University College Cork, Ireland
In 2012, the gene editing group led by Patrick Harrison, PhD, reported the first successful correction of a CFTR mutation in a cell model of cystic fibrosis. Since then, his lab has successfully applied a range of new strategies to correct a number of PTC and splicing mutations with greater efficiency, and with a focus on approaches that are amenable to clinical development. The lab is currently funded by the CF Foundation (USA), CF Trust (UK) and Science Foundation Ireland, and is collaborating with other groups in London, across Europe and North America towards the common goal of developing gene-based therapies suitable for everyone with CF.
Dr. Harrison has been a regular presenter and session organizer at European and American CF conferences since 2014, including a keynote talk on Gene Editing for CF: Heading Towards a Brave New World, at the 2017 European CF conference. Outside the lab, Dr. Harrison is the Chair of the CF Trust’s Research Grants Review Committee and European Editor for the journal Gene Therapy. He also supports research on other genetic diseases working with Cystinosis Ireland, and as a board member of The Irish Platform for Patients’ Organisations, Science and Industry.
Profesor, Universidad Hebrea de Jerusalén
Departamento de Genética
La Prof. Batsheva Kerem recibió su B.Sc. en Biología (1979) y su doctorado (1986) de la Universidad Hebrea. Su formación postdoctoral fue en el Hospital for Sick Children, Toronto Canadá (1987-1990). Desde 1990, es miembro de la facultad del Departamento de Genética, Instituto de Ciencias de la Vida, Universidad Hebrea, Jerusalén, Israel. El profesor Kerem fue nombrado profesor titular en 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. Dr. 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). Dr. Kerem is a member of the European Molecular Biology Organization (EMBO). She serves on the editorial board of the Revista europea de genética humana y Informes EMBO. El profesor Kerem ha publicado más de 120 artículos.
Dr. Kerem has been working in cystic fibrosis (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.
Maria P. Limberis, PhD, has more than 20 years of gene therapy research experience. She has dedicated her research career to the discovery and development of novel gene therapies for the potential treatment of cystic fibrosis (CF) airway disease. Most recently, Dr. Limberis served as Vice President of Research at Spirovant Sciences, Ltd. Previously, she was an Associate Professor in the Department of Medicine at the University of Pennsylvania, leading pre-clinical R&D and translational gene therapy programs in CF and airborne infectious diseases.
Through her doctoral research at the University of Adelaide and the Women’s and Children’s Hospital in Adelaide, Australia, Dr. Limberis developed a novel gene therapy regimen for lungs affected by CF, involving a compound found naturally in the lungs that ‘conditions’ the lungs to allow diseased airway cells to take up the therapeutic CF gene. The results, published in Human Gene Therapy in 2002, were the first to demonstrate that lentiviral-based gene therapy “corrects” the CF airway defect in an animal model of CF. This research has served as the foundation of many gene therapy studies, and is cited in more than 155 publications.
Director Médico, Servicios de Investigación Clínica; Codirector del Programa de Fibrosis Quística en Adultos; Director de Desarrollo de Terapéutica CF; Profesor (titular), Departamentos de Medicina y Pediatría, División de Medicina Pulmonar, Cuidados Intensivos y del Sueño de la Familia Tuchman, National Jewish Health
Dr. Jennifer Taylor-Cousar is a tenured professor of adult and pediatric pulmonary medicine at National Jewish Health (NJH), where she serves as the Medical Director of Clinical Research Services. She oversees the care of children with pulmonary disease and adults with cystic fibrosis (CF). Dr. Taylor-Cousar is co-director of the Adult CF Program and Director of the CF Therapeutics Development Network (TDN) research that is conducted at NJH, and has been site primary investigator on more than 40 studies, and global site investigator on three studies. Her investigator initiated research focuses on the development and evaluation of novel therapies for the treatment of CF, and determination of the etiology and treatment of bronchiectasis in non-human primates.
Se desempeña en numerosos comités locales y nacionales, incluido el Consejo Asesor de Investigación Clínica de la Fundación CF, el Comité Ejecutivo de Investigación Clínica de CF TDN y como Presidenta del Grupo de Trabajo de Investigación de la Salud de la Mujer de CF TDN. Recientemente completó su servicio en el Comité Asesor Científico de la American Thoracic Society (ATS) y fue elegida Presidenta Electa del Comité de Programación de Problemas Clínicos ATS 2019-2020 (Presidenta, 2020-2021). Ha copresidido numerosas sesiones y dado conferencias invitadas en la Conferencia Internacional ATS y las Conferencias de FQ de América del Norte, Europa y Australia, así como en conferencias regionales de FQ y pulmón y conferencias veterinarias nacionales e internacionales. Ella es un miembro activo de la Junta de CF del Capítulo de Colorado.
La Dra. Taylor-Cousar recibió su licenciatura en biología humana de la Universidad de Stanford en 1993. Completó su doctorado en medicina en 1998, la residencia combinada en medicina interna y pediatría en 2002, y su beca combinada en medicina pulmonar pediátrica y de adultos en 2006 en Centro médico de la Universidad de Duke. La Dra. Taylor-Cousar obtuvo su Maestría en Ciencias Clínicas de la Universidad de Colorado en 2015.
Director científico de BioMotiv; Presidente de la Junta, 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 (CF), including KALYDECO® y ORKAMBITM, los primeros tratamientos que corrigen el defecto fundamental que causa la FQ.
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® y SYLVANT®. El Dr. Torphy tiene una licenciatura en Farmacia de la Universidad de Wisconsin y un Doctorado en Farmacología y Toxicología de la Universidad de West Virginia. Completó su formación postdoctoral en la Universidad de California, San Diego.
Vicepresidente Ejecutivo, The Wistar Institute; Director, Centro de Vacunas Wistar; Profesor de WW Smith Charitable Trust en Investigación del Cáncer
Inmunólogo y experto en vacunas, David B. Weiner, PhD, es vicepresidente ejecutivo del Instituto Wistar, director del Centro de Vacunas Wistar y Profesor de Investigación del Cáncer de WW Smith Charitable Trust. El Dr. Weiner dirige un laboratorio de investigación traslacional en el área de Inmunología Molecular. Su grupo es uno de los equipos de investigación pioneros en establecer el campo de las vacunas de ADN y las terapias inmunes. Los informes importantes de su laboratorio incluyen la primera vacuna de ADN estudiada para el VIH, así como para la inmunoterapia contra el cáncer, el desarrollo temprano de adyuvantes genéticos codificados por ADN, incluida la IL-12 particularmente relevante, avances en la optimización de genes y avances en las tecnologías de electroporación que dan como resultado una mejora entrega de genes entre otros. Su grupo trabajó con colaboradores para convertirse en el primero en trasladar la tecnología del ADN al estudio en humanos. El trabajo de su laboratorio ayudó a revitalizar el campo mediante el avance del nuevo diseño de ADN sintético y la modificación de los enfoques de administración de EP, lo que resultó en una potente inducción inmune, así como en el primer estudio exitoso de eficacia del ADN de fase IIb (para la terapia inmunológica del VPH) en humanos.
Weiner ha recibido numerosos honores, incluida la elección como miembro de la Asociación Estadounidense para el Avance de la Ciencia en 2011 y de la Sociedad Internacional de Vacunas en 2012. Recibió el Premio a la Investigación Transformativa del Director de los NIH y la Excelencia en la Industria de las Vacunas. Premio al Mejor Equipo de Investigación Académico en 2015 en el Congreso Mundial de Vacunas. Weiner fue honrado con el prestigioso Hilleman Lectureship en 2015 en la sesión Grand Rounds del Children's Hospital of Philadelphia y recibió un premio Stone Family del Abramson Cancer Center por su trabajo pionero en vacunas de ADN para la terapia inmunológica contra el cáncer.
En marzo de 2016, Weiner regresó a Wistar desde su puesto en la Facultad de Medicina de la Universidad de Pensilvania como profesor de Patología y Medicina de Laboratorio. De 1990 a 1993, Weiner ocupó un cargo conjunto como profesor asistente de Patología y Medicina de Laboratorio en el Instituto Wistar y la Facultad de Medicina de la Universidad de Pensilvania.
Weiner se graduó con una licenciatura en biología de SUNY en Stony Brook, en Stony Brook, Nueva York, una maestría en biología de la Universidad de Cincinnati y un doctorado en biología del desarrollo de la Facultad de Medicina de la Universidad de Cincinnati.
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