More than 30 million people in the U.S. and 350 million globally are impacted by one of 7,000 distinct rare diseases, and the National Institutes of Health estimates that half of all people affected by rare diseases are children.1
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Rare Disease Research
Investigating the Next Wave of Innovation to Help People with Hemophilia
Over the past 25 years, genes responsible for approximately 50% of the monogenic diseases2, diseases where a single gene is mutated, have been identified and it is estimated that the remaining disease-causing genes will be known by the year 2020.3
Scientific advances over the past decade have increased understanding of rare diseases and their underlying causes, even enabling the development of critical treatment options for some. But today, just 5% of rare diseases have an available therapeutic, and a significant unmet medical need remains.4
understanding of rare diseases.
At Pfizer, we are making important strides in our understanding of rare diseases and there is tremendous opportunity for patients driven by recent scientific breakthroughs to enable the discovery and development of new medicines.
A majority of rare diseases are caused by a single gene mutation, and thanks to genome sequencing, we now have clues that lead us in the best direction for potential therapies. This is key for Pfizer as we focus on monogenetic diseases, partly through our gene therapy efforts.
With more than 20 years of experience in rare disease research, treatments approved in 81 countries, and multiple drugs in clinical trials, Pfizer is uniquely positioned to lead advances in rare disease treatment. We are focused on two main areas of research in rare disease:
Gene therapy is an emerging area of medical research focused on developing highly specialized, one-time, transformative treatments aimed at addressing the root cause of diseases caused by genetic mutation. Gene therapy is a promising investigational technology, especially for patients with rare diseases, many of which are caused by a single genetic mutation.
The technology involves introducing genetic material into the body to deliver a corrected copy of a gene to a patient’s cells to compensate for a defective one. The genetic material can be delivered to the cells by a variety of means, one of which is uses a viral vector such as recombinant Adeno-Associated Virus (rAAV).
To bolster our capabilities in gene therapy, Pfizer acquired Bamboo Therapeutics, Inc., a privately held biotechnology company based in Chapel Hill, N.C., focused on developing gene therapies for the potential treatment of patients with certain rare diseases related to neuromuscular conditions and those affecting the central nervous system. This acquisition significantly expands Pfizer’s expertise in gene therapy by providing Pfizer with clinical and several preclinical assets that complement the company’s rare disease portfolio, an advanced rAAV vector design and production technology, and a fully functional Phase 1/2 gene therapy GMP manufacturing facility that Bamboo acquired from the University of North Carolina.
Our strategy is focused on accessing the most effective vector design and manufacturing scalability to ensure we are phase 1/2 ready. We are building capabilities in gene therapy while also collaborating with some of the leading experts in this field:
From the earliest discovery phase, Pfizer is engaging to fully understand the needs of patients and to gain insights to help both patients and caregivers. In our engagement with advocacy and patient communities we hope to advance science together with ideas that could ultimately result in better therapies. Patient foundations play a pivotal role in rare disease R&D, helping amplify and accelerate efforts to bring potential therapies to areas where there are very limited, if any, treatment options. At Pfizer, our patient foundation partners work with our R&D teams to help de-risk early stages of research, prioritize endpoints, support clinical trial recruitment, and provide insight into disease.
Work with Us
If you’re interested in collaborating with our Rare Disease research team and want to learn more about work, visit our Rare Diseases Partnering page. We welcome the opportunity to discuss how we can work together.
Blocks after Body
Meet Some of Pfizer’s Rare Disease Researchers
Gregory LaRosa, PhD
Chief Scientific Officer, Vice President
of Rare Disease Research and Development
Gregory LaRosa, PhD, is Vice President, and Chief Scientific Officer of Pfizer’s Rare Disease Research Unit. Dr. LaRosa oversees all aspects of the Rare Disease Research Unit operations, including setting portfolio strategies, overseeing project progression, and working closely with the Business Unit colleagues.
Dr. LaRosa received his PhD from Harvard University (Division of Medical Sciences) in Molecular, Cellular, and Developmental Biology. He has over 23 years of experience in rare disease and inflammation drug discovery and development.
Prior to joining Pfizer in July 2012, Dr. LaRosa worked in several start-up and midsize biotechnology companies, most recently serving as President and Chief Scientific Officer at BIKAM Pharmaceuticals, Inc., Cambridge, MA. At BIKAM, he led the internal team charged with the discovery and validation of novel small molecule pharmacologic chaperones for the rod cell visual pigment, with the goal to correct the misfolding and trafficking of mutant rhodopsins that cause Retinitis Pigmentosa. The group focused on the development and utilization of in vitro and in vivo models related to Autosomal Dominant Retinitis Pigmentosa and age-related macular degeneration, to identify novel small molecules as candidates for progression into development for retinitis pigmentosa and age-related macular degeneration clinical trials. This effort resulted in the discovery of a novel Development Candidate for autosomal dominant retinitis pigmentosa. The company/asset was sold and the project is currently moving towards the clinic.
From 2003 until 2008, Dr. LaRosa served as Vice President of Discovery Research at Critical Therapeutics, Inc., Lexington, MA, leading a group of biologists and chemists focusing largely on the pre-clinical validation of the concept that alpha-7 nAChR modulators could have broad use as anti-inflammatory therapeutics. He worked to discover and begin the development of novel anti-inflammatory, peripherally acting, compounds that target alpha-7, and demonstrated efficacy in animal models of inflammatory and allergic disease. Additionally, Dr. LaRosa ran a collaboration with Medimmune on the discovery and characterization of mAbs to HMGB1, a novel target for the treatment of very severe life-threatening inflammation.
Before Critical Therapeutics, Dr. LaRosa served as Senior Director of Immunopharmacology at Millennium Pharmaceuticals, Inc., from 1999 to 2003, where his work was focused on several inflammation drug discovery projects targeting chemokine receptors and kinases. His group delivered three new Development Candidates that entered clinical trials. From September 1994 to December 1999, Dr. LaRosa served in several senior research positions at LeukoSite, Inc., a biotechnology company focused on chemokines, adhesion proteins and inflammation drug discovery. From 1988 to September 1994, Dr. LaRosa held several research posts at Repligen, Corp., a biotechnology company in the Boston area.
R. Jude Samulski, PhD
Vice President, Gene Therapy
Dr. Samulski is the scientific founder of Bamboo Therapeutics, Inc. and served as the Chief Scientific Officer and Executive Chairman of the company until its acquisition by Pfizer. Dr. Samulski has worked with adeno-associated virus (AAV) for 25 years, and for the past eight years, has been Director of the University of North Carolina Gene Therapy Center. Dr Samulski has been a serial entrepreneur, founding companies such as Asklepios Biopharmaceutics, Chatham Therapeutics and Merlin, all of which are focused on AAV-based gene therapy. Dr Samulski is a former member of the Recombinant DNA Advisory Committee (RAC), a committee tasked with assisting the FDA with approving or disapproving gene therapy clinical trials in the United States. He also frequently serves as a gene therapy consultant to the FDA.
Dr. Samulski received his PhD in Medical Microbiology and Immunology from the University of Florida. Dr. Samulski’s graduate work (1978-82) demonstrated the first use of AAV as a viral vector and culminated in the first US patent involving non-AAV genes inserted into AAV.
John Paul Thottam
Associate Scientist, Neuromuscular Diseases
John Paul Thottam is an Associate Scientist in Pfizer’s Rare Disease Research Unit, Neuromuscular Diseases. He attended Northeastern University where he studied Biochemistry and performed undergraduate research in the lab of Rebeca Rosengaus, investigating the immune responses of dampwood termites and tobacco hornworm moths. While a student at Northeastern, Mr. Thottam also participated in the Co-op program and worked for six months in Pfizer Cambridge’s Cardiovascular and Metabolic Diseases Research Unit on a project for small molecule mediated G-protein-coupled receptors sensitization.
Upon graduation Mr. Thottam returned to Pfizer as a full time employee in the Neuromuscular group of the Rare Disease Research Unit. His work is currently focused on small molecule therapies for Duchenne’s Muscular Dystrophy.
Julie Tordo, PhD
Principal Scientist, Discovery Lead
Julie Tordo, PhD, is a Principal Scientist, Discovery Lead. Dr. Tordo joined Pfizer in May 2015 at the recently created Genetic Medicine Institute in London. As part of the Rare Diseases Research Unit, the Genetic Medicine Institute is committed to the development of new potential therapies to address unmet medical needs of those individuals with rare diseases, more specifically by dedicating efforts to the discovery, development and manufacturing of Gene Therapy based products. As the Genetic Medicine Institute Discovery Lead, Dr. Tordo’s efforts are centered on the development of a viral vector platform to address various gene therapy applications. The main focus is on the design, engineering and development of new Adeno-associated virus capsid variants in order to optimize the bioactivity, tissue-specificity and transduction efficiency of the vectors and to obtain improved overall properties. Her work involves interactions with multiple functional lines internally as well engagement in key external collaborations around gene therapy drug development efforts with partnered academic groups.
Dr. Tordo did her graduate work in Molecular Biology and Genetics at the European Master of Science in Genetics at University Paris VII and obtained her degree in 2008. She later obtained her PhD in 2012 in Prof. Olivier Danos’ lab at University College London, focusing on the characterization of novel Adeno-associated virus vectors for the transfer of antisense sequences in the context of Duchenne Muscular Dystrophy. She then became a postdoctoral fellow in Prof. Michael Linden’s lab in September 2012, where she worked on the design, development and characterization of recombinant Adeno-associated virus vectors, and on the optimization of their production and purification.
Reema Jasuja, PhD
Reema Jasuja, PhD, is a Principle Scientist in Pfizer’s Rare Disease Research Unit. Dr. Jasuja joined Pfizer in Cambridge, MA in 2012, and contributed to efforts in hematology projects across the Rare Disease Research Unit, including sickle cell disease and hemophilia. She has worked extensively with in vivo models of both hemophilia and sickle cell disease. Dr. Jasuja did the preclinical work around Tissue Factor Pathway Inhibitor, which achieved Proof-of-Mechanism in 2016 for prophylaxis in hemophilia. She has also worked extensively across sickle cell disease projects including preclinical studies on PDE9 inhibitor for sickle cell disease. Additionally, she is the research program lead of an early stage program on Erythroferrone antibody, for managing iron overload in patients with thalassemia and other rare forms of anemias leading to iron overload.
Dr. Jasuja did her graduate work in molecular and cellular pharmacology at University of Wisconsin- Madison with Dr. Daniel Greenspan. She studied extracellular signaling regulation of Bone morphogenetic protein 1 and how the prodomain of Bone morphogenetic protein 1regulates the protein activity to affect downstream signaling mechanisms. Her postdoctoral work at the Beth Israel Deaconess Medical Center, Harvard Medical School with Drs. Barbara and Bruce Furie focused on hemostasis and thrombosis regulation by extracellular protein disulfide isomerase and other thiol isomerases. During her postdoctoral work, she was involved in using a novel technology of using intravital microscopy, and she has now brought this technology for preclinical models within Pfizer.
Steven Arkin, MD
Steven Arkin, MD, is Executive Director of Pfizer’s Rare Disease and Research Unit. He joined Pfizer in 2005, by way of Wyeth, and has contributed to Pfizer programs in Hemophilia and other Rare Diseases and in Oncology. For hemophilia and other rare diseases, he has led the registration program for Xyntha®, has been the research program lead for PF-05280602, variant of activated coagulation factor VII, and the clinical lead for PF-06252616, an anti-GDF8 drug targeted for Duchenne Muscular Dystrophy. In oncology he has been the clinical lead for the bosutinib programs in autosomal dominant polycystic kidney disease and in Chronic Myeloid Leukemia. Dr. Arkin is currently the research program lead for PF-05230907, a variant of activated coagulation factor X program in the clinic for treatment of intracerebral hemorrhage and the clinical lead for PF-06741086, an inhibitor of TFPI in the clinic for treatment of hemophilia. He also serves on Pfizer’s Immunogenicity Expert Working Group, is a member of the DIA Small Populations Working Group, and has served on the American Association of Pharmaceutical Scientists – Therapeutic Product Immunogenicity Committee on Harmonization of Clinical Immunogenicity.
Dr. Arkin did his undergraduate work in biology and natural science at the University of Pennsylvania and he obtained his Medical Doctor degree at the New York University School of Medicine. He did his residency in pediatrics at Saint Christopher’s Hospital for Children and his fellowship in Pediatric Hematology/Oncology at the Morgan Stanley Children’s Hospital.
Prior to joining Pfizer, Dr. Arkin was in the academic setting for 18 years in the field of Pediatric Hematology/Oncology. His academic clinical and research activities focused on hemostatic abnormalities in children and on mechanisms of disease in congenital bone marrow failure disorders. Dr. Arkin directed a translational research laboratory investigating hematopoiesis in bone marrow failure disorders, was principal investigator for numerous clinical research studies in hemophilia and he is author on numerous publications. He has served on the Centers for Disease Control and Prevention Uniform Data Collection Study Committee, the Hemophilia Association of New York Medical Advisory Committee, the Human Health and Services Region II Hemophilia Services Advisory Committee and he has performed grant review for the Fanconi Anemia Research Fund, St Baldrick’s Foundation and for the Hemophilia Association of New York. He is a member of the International Society for Thrombosis and Hemostasis, the American Society of Hematology, the American Society of Pediatric Hematology/Oncology and the Society for Pediatric Research.
Selected Publications from the Rare Disease Research Unit
- 1-(2-Hydroxy-2-methyl-3-phenoxypropanoyl)indoline-4-carbonitrile derivatives as potent and tissue selective androgen receptor modulators Journal of Medicinal Chemistry Piatnitski Chekler EL, Unwalla R, Khan TA, Tangirala RS, Johnson M, St Andre MS, Anderson JT, Kenney T, Chiparri S, McNally C, Kilbourne E, Thompson C, Nagpal S, Weber G, Schelling S, Owens J, Morris CA, Powell D, Verhoest PR, Gilbert AM. March 27 2014
- A myostatin and activin decoy receptor enhances bone formation in mice Bone Bialek P, Parkington J, Li X, Gavin D, Wallace C, Zhang J, Root A, Yan G, Warner L, Seeherman HJ, Yaworsky PJ. March 2014
- Discovery of novel 2-((pyridin-3-yloxy)methyl)piperazines as alpha7 nicotinic acetylcholine receptor modulators for the treatment of inflammatory disorders Journal of Medicinal Chemistry Clark RB, Lamppu D, Libertine L, McDonough A, Kumar A, LaRosa G, Rush R, Elbaum D. May 22 2014
- Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling Human Molecular Genetics Kawahara G, Gasperini MJ, Myers JA, Widrick JJ, Eran A, Serafini PR, Alexander MS, Pletcher MT, Morris CA, Kunkel LM. April 1 2014
- Emerging and future therapies for hemophilia Journal of Blood Medicine Carr ME, Tortella BJ. September 3 2015
- Inter-domain communication of human cystathionine β-synthase: structural basis of S-adenosyl-L-methionine activation The Journal of Biological Chemistry McCorvie TJ, Kopec J, Hyung SJ, Fitzpatrick F, Feng X, Termine D, Strain-Damerell C, Vollmar M, Fleming J, Janz JM, Bulawa C, Yue WW. December 26 2014
- Intrathecal delivery of frataxin mRNA encapsulated in lipid nanoparticles to dorsal root ganglia as a potential therapeutic for Friedreich’s ataxia Scientific Reports Nabhan JF, Wood KM, Rao VP, Morin J, Bhamidipaty S, LaBranche TP, Gooch RL, Bozal F, Bulawa CE, Guild BC. February 17 2016
- Orphan Drugs and Rare Diseases Royal Society of Chemistry Pregel MJ. 2014
- Perturbation of cellular proteostasis networks identifies pathways that modulate precursor and intermediate but not mature levels of frataxin Scientific Reports Nabhan JF, Gooch RL, Chekler ELP, Pierce B, Bulawa CE. December 16 2015
- Strategies for skeletal muscle targeting in drug discovery Current Pharmaceutical Design Ebner DC, Bialek P, El-Kattan AF, Ambler CM, Tu M. 2015
- Two Novel α7 Nicotinic Acetylcholine Receptor Ligands: In Vitro Properties and Their Efficacy in Collagen-Induced Arthritis in Mice PLoS One van Maanen MA, Papke RL, Koopman FA, Koepke J, Bevaart L, Clark R, Lamppu D, Elbaum D, LaRosa GJ, Tak PP, Vervoordeldonk MJ. January 24 2015