Henric Bjarke joined Inozyme Pharma in July 2017 and has served as our senior vice president and chief operating officer since then. Prior to joining our company, Mr. Bjarke served as senior vice president, chief commercial officer of IVERIC from September 2015 to April 2017.
Mr. Bjarke served as vice president, global metabolic disorders franchise of Alexion from November 2012 to August 2015 and as vice president, North America commercial operations of Alexion from September 2010 to November 2012. Prior to joining Alexion, Mr. Bjarke served in various commercial roles at Watson Pharmaceuticals, Eyetech Pharmaceuticals, Inc. and Pharmacia Corporation. Mr. Bjarke received a B.A. Sc. in business administration and economics from Uppsala University in Sweden.
Read More +Read Less -Axel Bolte is our president and chief executive officer and is a member of our board of directors since September 2015, when he co-founded our company. Since March 2017, Mr. Bolte also has served as a managing member of Healthcare Advisors GmbH, a private healthcare advisory company.
Mr. Bolte served as a venture partner at HBM Partners AG, a provider of investment advisor services in the life sciences industry, from February 2017 to September 2019 and as an investment advisor to HBM Partners AG from March 2003 to January 2017. Mr. Bolte currently serves on the board of directors of IVERIC bio, Inc. (formerly known as Ophthotech Corporation), or IVERIC, and previously served on the board of directors of Allena Pharmaceuticals, Inc., Nabriva Therapeutics plc and PTC Therapeutics, Inc., all of which are publicly traded biotechnology or pharmaceutical companies. Mr. Bolte received a degree in biochemistry from the Swiss Federal Institute of Technology, Zurich, Switzerland and an M.B.A. from the University of St. Gallen, Switzerland
Read More +Read Less -Gayle Gironda joined Inozyme in July 2021 and serves as our senior vice president of human resources. She has more than 20 years of experience in organizational design, talent recruitment, performance culture, planning and leadership development.
Ms. Gironda offers a deep knowledge of life sciences, stemming from her work with large multinational pharmaceutical organizations as well as small biotech companies. She previously served as vice president, human resources, global hematology and global market access at Bristol Myers Squibb (BMS), playing a key role integrating the Hematology Business Unit as part of the company’s acquisition of Celgene. Additionally, she supported the Global Market Access, Pricing and Health Economics and Outcomes Research (HEOR) teams through post-acquisition strategy, organizational design and talent alignment. Before joining Celgene in 2018 as vice president, human resources, global franchises, Ms. Gironda was executive director, HR, commercial operations at Alexion Pharmaceuticals. Her previous experience also includes leadership roles in human resources and operations for small-to-mid-sized companies such as Watson/Actavis, Jerini Ophthalmic, Inc. and Eyetech Pharmaceuticals. Ms. Gironda received a B.A. in liberal studies from SUNY Purchase.
Read More +Read Less -Yves Sabbagh, Ph.D., is our senior vice president and chief scientific officer, joining Inozyme in October 2020. Dr. Sabbagh brings to Inozyme more than 20 years of experience in rare genetic disorders and mineral metabolism with responsibilities leading to the identification and evaluation of novel therapeutic approaches and translating them into clinical candidates.
Prior to joining Inozyme, Dr. Sabbagh served as the head of rare renal and musculoskeletal diseases research at Sanofi. Prior to that executive role, he held scientific roles of increasing responsibility at Sanofi and Genzyme Corporation spanning endocrine, renal and rare bone diseases including driving the strategy for bone indications. Prior to his corporate experience, he was an instructor at the Harvard Medical School in the Endocrine unit. Dr. Sabbagh has co-authored more than 30 peer-reviewed publications and book chapters and is a member of several scientific societies. Dr. Sabbagh received a B.Sc. in biochemistry from McGill University, an MSc in microbiology from Université Laval and a Ph.D. in biology from McGill University.
Read More +Read Less -David Thompson rejoined our leadership team in July 2021 as chief development officer, after previously serving as our senior vice president and chief scientific officer from 2018 to 2020. In his former role, Dr. Thompson was responsible for scientific research as the company built its proprietary pipeline of investigational therapies, beginning with INZ-701.
He has more than 30 years of experience designing and leading research and development programs focused on bone disorders and phosphate regulation. Prior to joining Inozyme Pharma, Dr. Thompson was a founder and president of Azure Biotech, where he was responsible for the development of a novel formulation of lasofoxifene, a non-steroidal selective estrogen receptor modulator used for the prevention and treatment of osteoporosis and the treatment of vaginal atrophy. Previously, Dr. Thompson held executive positions in clinical research and drug development in multiple biopharma companies, including Alexion Pharmaceuticals, where he led the clinical development of asfotase alfa for the treatment of hypophosphatasia; and Pfizer, where he oversaw the osteoporosis research and frailty discovery groups. While at Merck Research Labs, he conducted preclinical work and participated in the early clinical development of alendronate for the treatment of osteoporosis. Dr. Thompson received his M.A. from the University of Montana and both his M.S. and Ph.D. from the University of Connecticut.
Read More +Read Less -Sanjay Subramanian joined Inozyme as Chief Financial Officer in March 2022. He brings to Inozyme over 20 years of corporate finance, capital markets, and business development expertise. Prior to joining Inozyme, Mr. Subramanian served as CFO and head of corporate development at Ocugen, Inc., where he led the company’s finance, investor relations, and business development functions.
At Ocugen, Mr. Subramanian was instrumental in improving its capital structure, raising over $200 million, and leading transformative collaboration. Prior to Ocugen, he held roles of increasing responsibility at Aralez Pharmaceuticals, most recently as CFO, and played a key role in the Aralez formative transaction and its listing on Nasdaq and TSX. Mr. Subramanian also previously held positions of increasing responsibility at Bausch Health Companies, including playing a key role in the acquisition, financing, and post-merger integration of Bausch & Lomb. Before Bausch Health, Mr. Subramanian was part of General Motors’ finance leadership rotation program and served as the Managing Director and Treasurer at its Korea division as his last role. He received an MBA from the MIT Sloan School of Management, a Master of Science from both the Massachusetts Institute of Technology (MIT) and The Ohio State University, and a Bachelor of Technology from the Indian Institute of Technology.
Read More +Read Less -Soojin Kim, Ph.D. joined Inozyme as Senior Vice President and Chief Technical Operations Officer in March 2022. She joins Inozyme with more than 25 years of experience in pharmaceutical research and development (R&D) and manufacturing, along with an extensive background as a leader in developing expert technology groups and project teams. Prior to joining Inozyme, Dr. Kim served as senior vice president and site head of the bio plant complex at Hanmi Pharmaceutical Co.
In that role, she led the biomanufacturing and chemistry, manufacturing and controls (CMC) organization, and managed a variety of operations including, clinical/commercial manufacturing, process/analytical development, manufacturing sciences, and quality management. She previously was the senior research fellow and head of API development group, chemical development, at Boehringer Ingelheim Pharmaceuticals, and before that principal scientist and group leader in chemical process R&D at Bristol-Myers Squibb Company. Dr. Kim has published approximately 50 journal articles, book chapters, and proceedings is an inventor of more than 20 patents, and has won various awards for her work throughout her career. She holds both a Ph.D. and an M.S. in chemical engineering from the California Institute of Technology and a B.S. in chemical engineering with distinction from Cornell University.
Read More +Read Less -Axel Bolte is our president and chief executive officer and is a member of our board of directors since September 2015, when he co-founded our company. Since March 2017, Mr. Bolte also has served as a managing member of Healthcare Advisors GmbH, a private healthcare advisory company.
Mr. Bolte served as a venture partner at HBM Partners AG, a provider of investment advisor services in the life sciences industry, from February 2017 to September 2019 and as an investment advisor to HBM Partners AG from March 2003 to January 2017. Mr. Bolte currently serves on the board of directors of IVERIC bio, Inc. (formerly known as Ophthotech Corporation), or IVERIC, and previously served on the board of directors of Allena Pharmaceuticals, Inc., Nabriva Therapeutics plc and PTC Therapeutics, Inc., all of which are publicly traded biotechnology or pharmaceutical companies. Mr. Bolte received a degree in biochemistry from the Swiss Federal Institute of Technology, Zurich, Switzerland and an M.B.A. from the University of St. Gallen, Switzerland
Read More +Read Less -Sarah Bhagat has served on our board of directors since March 2019. Dr. Bhagat has served as a partner at Sofinnova Investments, Inc., or Sofinnova, a venture capital firm, since March 2020. She served as principal at Sofinnova from January 2019 to December 2019 and as an associate from May 2017 to December 2018. Dr. Bhagat was a postdoctoral fellow at Stanford University from April 2016 to May 2017. Dr. Bhagat served as a venture fellow at Canaan Partners, a venture capital firm, from February 2015 to February 2016.
Dr. Bhagat also served as a research assistant at The Rockefeller University from May 2008 to May 2010 and a clinical research coordinator at Massachusetts General Hospital from June 2007 to May 2008. Dr. Bhagat received a B.A. in biological psychology from Franklin & Marshall College and a Ph.D. in neuroscience from Yale University.
Read More +Read Less -Reinaldo M. Diaz has served on our board of directors since January 2017. Mr. Diaz has served as venture partner at Longitude Capital Management Co., LLC, a venture capital firm focusing on healthcare companies, since November 2015. Mr. Diaz has served as the managing member and managing director of DA Advisors, LLC., a financial and strategic consulting company focusing on biopharmaceutical companies, since 2005. Mr. Diaz served as a managing director at Auven Therapeutics, a private equity firm focusing on life sciences from 2008 to 2018. Mr. Diaz served as managing member and co-founder of Diaz & Altschul Capital Management, LLC, an asset management firm focusing on healthcare companies, from 1996 to 2005.
Mr. Diaz served as managing director and head of the healthcare group at Schroder Wertheim & Co., Inc. from 1993 to 1996. Mr. Diaz served in various roles at PaineWebber Development Corporation from 1985 to 1993, including as president from 1990 to 1993. Mr. Diaz received a B.A. in general studies from Harvard University and an M.B.A. from Harvard Business School.
Read More +Read Less -Dr. Martin Edwards has served on our board of directors since September 2017. He currently also serves on the board of directors of KalVista Pharmaceuticals, Inc., Reata Pharmaceuticals Inc, and Verona Pharma plc, all publicly traded pharmaceutical companies, and he previously was on the board of directors of CoLucid Pharmaceuticals, Inc., a publicly traded pharmaceutical company, from January 2015 to March 2017.
Dr. Edwards also served as Senior Partner at Novo Holdings A/S from 2003 to 2020. Earlier in his career, Dr. Edwards served as chief executive officer of ReNeuron Ltd., a stem cell research company based in the United Kingdom, and as global head of drug development for Novo Nordisk A/S, where he led preclinical and clinical drug development. Dr. Edwards received an MBA from the University of Warwick (UK) and his medical degree from the University of Manchester (UK).
Read More +Read Less -Rob Hopfner has served on our board of directors since November 2018. Dr. Hopfner has served as managing partner of Pivotal bioVenture Partners, a venture capital firm focused on life sciences, since October 2017. Dr. Hopfner served in various roles at Bay City Capital, a venture capital firm focused on life sciences, from August 2002 to October 2017, including as a principal from June 2007 to October 2009 and as managing director and investment partner from October 2009 to October 2017.
Dr. Hopfner received a B.S. in pharmacy from the University of Saskatchewan, an M.B.A. from the University of Chicago Booth School of Business and a Ph.D. in pharmacology from the University of Saskatchewan.
Read More +Read Less -Edward Mathers has served on our board of directors since January 2017. Mr. Mathers has served as a general partner at New Enterprise Associates, Inc., or NEA, a private venture capital firm focusing on technology and healthcare investments, since November 2019.
He served as partner at NEA from August 2008 to October 2019. Prior to joining NEA, Mr. Mathers served as executive vice president, corporate development and venture at MedImmune, Inc., or MedImmune, a biopharmaceutical company, and led its venture capital subsidiary, MedImmune Ventures, Inc. Mr. Mathers currently serves on the board of directors of ObsEva SA, Rhythm Pharmaceuticals, Inc., Synlogic, Inc. (formerly known as Mirna Therapeutics, Inc.), Trevi Therapeutics, Inc. and Mirum Pharmaceuticals, Inc., all publicly traded pharmaceutical companies, and he previously served on the board of directors of Liquidia Technologies, Inc., a publicly traded life sciences company, from April 2009 to May 2019 and Ra Pharmaceuticals, Inc., a publicly-traded pharmaceutical company, from February 2010 to April 2020. Mr. Mathers received a B.S. in chemistry from North Carolina State University.
Read More +Read Less -Lynne Sullivan has served on our board of directors since May 2020. Ms. Sullivan expects to join UNITY Biotechnology, Inc., a biotechnology company, as the interim chief financial officer in August 2020. Ms. Sullivan served as chief financial officer of Compass Therapeutics, LLC, a biotechnology company, from December 2018 to August 2019.
Ms. Sullivan served in various roles at Biogen Inc., a biotechnology company, including vice president of tax from April 2008 to February 2015, vice president of tax and corporate finance from February 2015 to March 2016 and senior vice president of finance from March 2016 to December 2018. Ms. Sullivan currently serves on the board of directors of Solid Biosciences Inc., a publicly traded biotechnology company, resTORbio, Inc., a publicly traded biopharmaceutical company, and BiomX Inc., a publicly traded biopharmaceutical company. Ms. Sullivan was a certified public accountant for over 20 years.
Read More +Read Less -Douglas Treco, Ph.D., has served as the chairman of our board of directors since May 2020. Dr. Treco co-founded RA Pharmaceuticals, Inc., or RA Pharma, a pharmaceutical company, in 2008, which was acquired by UCB S.A. in April 2020. He has served as the president and chief executive officer of Ra Pharma since June 2008.
Dr. Treco served as an entrepreneur-in-residence with Morgenthaler Ventures, a venture capital firm, from January 2008 to May 2014. Dr. Treco served as a visiting scientist in the Department of Molecular Biology at Massachusetts General Hospital and as a lecturer in genetics at Harvard Medical School from 2004 to 2007. Dr. Treco currently serves on the board of directors of CRISPR Therapeutics AG and served on the board of directors of Ra Pharma from June 2008 to April 2020. Dr. Treco received a B.A. in Biology from the University of Delaware and a Ph.D. in biochemistry and molecular biology from the State University of New York, Stony Brook, and performed post-doctoral research at the Salk Institute for Biological Studies and Massachusetts General Hospital.
Read More +Read Less -Yves Sabbagh, Ph.D., is our senior vice president and chief scientific officer, joining Inozyme in October 2020. Dr. Sabbagh brings to Inozyme more than 20 years of experience in rare genetic disorders and mineral metabolism with responsibilities leading to the identification and evaluation of novel therapeutic approaches and translating them into clinical candidates.
Prior to joining Inozyme, Dr. Sabbagh served as the head of rare renal and musculoskeletal diseases research at Sanofi. Prior to that executive role, he held scientific roles of increasing responsibility at Sanofi and Genzyme Corporation spanning endocrine, renal and rare bone diseases including driving the strategy for bone indications. Prior to his corporate experience, he was an instructor at the Harvard Medical School in the Endocrine unit. Dr. Sabbagh has co-authored more than 30 peer-reviewed publications and book chapters and is a member of several scientific societies. Dr. Sabbagh received a B.Sc. in biochemistry from McGill University, an MSc in microbiology from Université Laval and a Ph.D. in biology from McGill University.
Read More +Read Less -David Thompson rejoined our leadership team in July 2021 as chief development officer, after previously serving as our senior vice president and chief scientific officer from 2018 to 2020. In his former role, Dr. Thompson was responsible for scientific research as the company built its proprietary pipeline of investigational therapies, beginning with INZ-701.
He has more than 30 years of experience designing and leading research and development programs focused on bone disorders and phosphate regulation. Prior to joining Inozyme Pharma, Dr. Thompson was a founder and president of Azure Biotech, where he was responsible for the development of a novel formulation of lasofoxifene, a non-steroidal selective estrogen receptor modulator used for the prevention and treatment of osteoporosis and the treatment of vaginal atrophy. Previously, Dr. Thompson held executive positions in clinical research and drug development in multiple biopharma companies, including Alexion Pharmaceuticals, where he led the clinical development of asfotase alfa for the treatment of hypophosphatasia; and Pfizer, where he oversaw the osteoporosis research and frailty discovery groups. While at Merck Research Labs, he conducted preclinical work and participated in the early clinical development of alendronate for the treatment of osteoporosis. Dr. Thompson received his M.A. from the University of Montana and both his M.S. and Ph.D. from the University of Connecticut.
Read More +Read Less -Demetrios Braddock is an Associate Professor at Yale University, where he practices hematopathology and leads a laboratory investigating questions at the intersection of disease pathogenesis and biophysical chemistry. Dr. Braddock has made important contributions to the understanding of the histopathology of disorders of aberrant calcification.
As the scientific founder of Inozyme Pharma and a member of the Scientific Advisory Board, Dr. Braddock continues to collaborate with the company. Dr. Braddock earned his M.D. from the University of Chicago Pritzker School of Medicine and received his Ph.D. in Biochemistry from the University of Chicago. He also trained at the National Institutes of Health in Pathology and Chemical Physics.
Read More +Read Less -Dr. O’Neill has an active basic and translational research program. His current research focuses on the pathophysiology of vascular calcification in renal failure specifically on the role of endogenous pyrophosphate in the etiology of vascular calcification. In addition, the role of other factors including vitamin D and matrix GLA protein is being investigated along with possible mechanisms for reversal of vascular calcification.
Dr. O’Neill received his M.D. from Tufts University School of Medicine. He then completed a residency in internal medicine at Albany Medical Center followed by subspecialty training in endocrinology, diabetes, and metabolism at Tufts Medical Center and in nephrology at Emory University School of Medicine. Dr. O’Neill is board certified in internal medicine, endocrinology diabetes and metabolism, and nephrology.
Read More +Read Less -Joseph Schlessinger has been the William H. Prusoff Professor and Chairman of the Department of Pharmacology at Yale University School of Medicine since 2001. He served as the Director of the Skirball Institute for Biomolecular Medicine at New York University (NYU) Medical Center and the Milton and Helen Kimmelman Professor and Chairman of the Department of Pharmacology at NYU Medical School.
He was a faculty member of the Weizmann Institute and the Ruth and Leonard Simon Professor of Cancer Research in the Department of Immunology. Dr. Schlessinger was a Research Director for Rorer Biotechnology. He founded Sugen, Inc. in 1991, Plexxikon in 2001, and Kolltan in 2008. Dr. Schlessinger holds a B.Sc. in chemistry and physics and an M.Sc. in chemistry from the Hebrew University in Jerusalem. He earned his Ph.D. in biophysics from the Weizmann Institute of Science in 1974. Dr. Schlessinger was a postdoctoral fellow in the Departments of Chemistry and Applied Physics at Cornell University, and he was a visiting fellow in the immunology branch of the National Cancer Institute of NIH.
Read More +Read Less -Edward Y. Skolnik is the former Norman S. Wikler Professor of Medicine and Director of the Division of Nephrology at the New York University Langone Medical Center. His current research interests focus on the regulation and function of the potassium channel KCa3.1 in lymphocyte and mast cell activation, and the role of histidine phosphorylation and dephosphorylation in regulating KCa3.1 and other biological processes.
The ultimate goal of these studies is to identify new targets to inhibit lymphocyte and mast cell activation and thereby treat autoimmune disease and allergy, as well as new targets to promote lymphocyte activation to enhance anti-tumor immunity. In addition, Dr. Skolnik’s lab studies autosomal dominant polycystic kidney disease, which is the most common hereditary cause of renal failure worldwide. Dr. Skolnik has received many awards for his research including election to the American Society of Clinical Investigation, American Association of Physicians, and the Interurban Clinical Club.
Read More +Read Less -Robert Terkeltaub is a Professor of Medicine at the University of California San Diego, where he joined the faculty in 1985 after completing his Immunopathology postdoctoral research training at the Scripps Research Institute in La Jolla, California.
His research achievements include works in translational inflammation and skeletal and arterial biology, clinical trials, management guidelines, and outcomes. With lab trainees and mentees, he published pioneering work in innate immunity-modulated and metabolically regulated chondrocyte pro-catabolic and pro-calcifying differentiation therapy targets for diseases of pathologic calcification and tissue degeneration. This includes seminal molecular identification of ENPP1 as the principal chondrocyte PPi-generating ectoenzyme. He identified autosomal recessive ENPP1 deficiency as molecular and genetic etiology of the severe arterial-periarticular calcifying orphan disease general arterial calcification of infancy (GACI). This work led to a broader recognition of GACI, genetic screening protocols, and now the development of biologic ENPP1 enzyme replacement therapy. He serves on multiple editorial boards and NIH and foundation scientific advisory committees. Dr. Terkeltaub is a graduate of McGill University, where he completed his medicine residency and Rheumatology Fellowship.
Read More +Read Less -Jouni Uitto is a Professor of Dermatology and Cutaneous Biology, and Biochemistry and Molecular Biology, and Chair of the Department of Dermatology and Cutaneous Biology at The Sidney Kimmel Medical College at Thomas Jefferson University, in Philadelphia, Pennsylvania, and has served there since 1986. He is also Director of the Jefferson Institute of Molecular Medicine at Thomas Jefferson University.
Dr. Uitto is internationally recognized for his research on connective tissue biochemistry and molecular biology in relation to cutaneous diseases and skin aging. Dr Uitto’s publications include (as of 3/2021) 743 original articles in peer-reviewed journals, 340 textbook chapters and review articles, and 1046 abstracts on presentations at national and international meetings. Dr. Uitto received both his M.D. and his Ph.D. in medical biochemistry from the University of Helsinki, Finland; he completed his residency training in dermatology at Washington University School of Medicine, St. Louis, Missouri.
Read More +Read Less -Paul B. Yu is a Physician-Scientist and Section Head of Cardiovascular Life Sciences at Brigham and Women’s Hospital and an Associate Professor of Medicine at Harvard Medical School.
Dr. Yu’s clinical interests include general cardiology, pulmonary vascular disease and cardiovascular disease associated with rheumatologic disease. His research focuses on how bone morphogenetic protein (BMP) and TGF-β signaling contribute to cardiopulmonary, systemic vascular, and musculoskeletal development, and how these signals may regulate physiology and tissue remodeling. Dr. Yu has contributed to more than 80 peer-reviewed publications. He received his M.D. from Duke University School of Medicine. He then completed a residency program in internal medicine at the University of California, San Francisco Medical Center, and a fellowship program in cardiovascular medicine at Massachusetts General Hospital. Dr. Yu is board certified in internal medicine and cardiovascular disease.
Read More +Read Less -Thomas Carpenter is Professor of Pediatrics (Endocrinology) and Orthopedics and Rehabilitation at the Yale School of Medicine. After undergraduate studies at the University of Virginia, Dr. Carpenter earned his medical degree and general pediatrics training at the University of Alabama. His fellowship training in endocrinology at Boston Children’s Hospital began his career-long involvement in clinical research focused on metabolic bone diseases in children.
Dr. Carpenter has been at Yale for more than 30 years and is very active in the Yale Bone Program. He serves as director of Yale’s interdisciplinary Pediatric Metabolic Bone Disease Clinic and is director of the Yale Center for X-Linked Hypophosphatemia, which was founded as a National Institutes of Health (NIH) Center of Research Translation in 2006. The Center concentrates on translational science of XLH and related disorders and serves as a nucleus for the clinical care of families with XLH in the Eastern US. Dr. Carpenter also serves as Medical Director of the Yale Center for Clinical Investigation’s Hospital Research Unit. Dr. Carpenter has served on various editorial boards of pediatric, endocrinology, and bone journals.
Read More +Read Less -Michael A. Levine is Chief of the Division of Endocrinology and Diabetes and Director of the Center for Bone Health at The Children’s Hospital of Philadelphia. Dr. Levine holds the Lester Baker Endowed Chair in Pediatric Diabetes. His primary clinical interests are endocrine diseases and genetic disorders that affect bone and mineral metabolism.
Dr. Levine has an active laboratory research program that complements and extends his clinical and translational studies. He has identified the molecular basis of several inherited disorders of mineral metabolism and his research interests extend to the molecular basis for embryological development of the parathyroid glands and disorders of vitamin D metabolism. He is a founding Executive Editor for the Journal of Clinical and Translational Science and an Associate Editor of the Journal of Clinical Endocrinology and Metabolism. He is also a member of numerous professional societies, including the American Society for Bone and Mineral Research, the American Society for Clinical Investigation, the Association of American Physicians, and the American Pediatric Society. Dr. Levine is a Fellow of the American College of Physicians and the American Academy of Pediatrics and a Master of the American College of Endocrinology.
Read More +Read Less -Frank Rutsch is an Associate Professor in Pediatrics at Münster University Children’s Hospital, Münster, Germany. Dr. Rutsch graduated from Münster University Medical School in 1992 and took part in the pediatric residency program in Dresden University and Dortmund Municipal Hospital, Germany. After spending a postdoctoral research fellowship in the Department of Rheumatology and Immunology at the University of California, San Diego, he became the leader of an independent research group at Münster University Children’s Hospital in 2004.
Dr. Rutsch’s main research interests are focused on the discovery of the underlying genetic defects and translational aspects in rare pediatric metabolic and autoimmune disorders. In this respect, with the help of several consortia, his group discovered the genetic cause of generalized arterial calcification of infancy (GACI), Crisponi syndrome, certain defects of intracellular cobalamin metabolism, subtypes of Aicardi-Goutières syndrome and Singleton-Merten syndrome. His current projects include experimental studies in animal models of some of these rare disorders.
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