Scientific Advisory Board
Steven M. Altschuler, M.D. / Chairman of the SAB
Dr. Steven Altschuler brings over 20 years of experience building and leading world-class, integrated, translational, value-based healthcare systems and transformational biotechnology companies. He currently serves as managing director of Healthcare Ventures at Ziff Capital Partners and was previously chair of the board of directors at Spark Therapeutics (now part of Roche) for six years, from its founding until it was acquired in 2019. In his role at Ziff Capital Partners, Dr. Altschuler co-leads the firm’s efforts towards investing in and facilitating the startup and development of companies with potentially transformative technologies that emphasize cellular and molecular approaches to human disease. He previously co-founded Spark Therapeutics to develop and commercialize the preclinical and clinical gene therapy programs advanced at Children’s Hospital of Philadelphia (CHOP) and other institutions. He served as Spark’s board chair from its founding through its acquisition in 2019, which included leading the company through a successful transition to a public company and the launch of an approved commercial product, which was the first gene therapy for an inherited disease approved by the U.S. Food and Drug Administration and European Medicines Agency. Dr. Altschuler formerly held chief executive positions at CHOP and University of Miami Health System. He is a member of the board of directors of WW (formerly Weight Watchers International), Orchard Therapeutics, AsclepiX Therapeutics (board chair), Imvax , Platelet BioGenesis (board chair), Affinivax, 89bio (board chair) and Azura Opthalmics (board chair). He is also an independent trustee of the Brigham and Women’s Physicians Organization at Mass General Brigham and Case Western Reserve University. Dr. Altschuler holds a B.A. in mathematics and an M.D. from Case Western Reserve University.
Laurence A. Bindoff M.D., Ph.D.
Laurence Bindoff took a Bachelor degree in Biochemistry & Genetics and a Master in Neuroscience before completing medical training and subsequently specializing in Neurology. He moved to Bergen in 1997, and took up a position as Professor in Neurology, Department of Clinical Medicine, University of Bergen, in 2001. As a neurological scientist, Laurence Bindoff has specialized in neurological genetics with special focus on mitochondrial diseases. He received his doctorate in mitochondrial disease from the University of Newcastle (Title: Defects of mitochondrial oxidations) with commendation. His clinical activities focussed on running a specialized neuromuscular/neurogenetic service seeing patients with all types of inherited neurological disease, but particularly those with mitochondrial & muscle disease. Bindoff was leader for the Mitochondrial Medicine & Neurogenetics (MMN) research group, (http://www.uib.no/rg/mitochondrial_medicine) until he retired in 2021.
Bindoff has contributed to the field of mitochondrial disease for more than 3 decades. His important discoveries include - finding one of the 3 major mutations causing Leber Hereditary Optic Neuropathy, showing that mitochondrial dysfunction outside the brain was present in Parkinson’s disease and showing that it was possible to shift the genetic basis in some types of mitochondrial DNA disease. His molecular pathology studies into the pathogenesis of the mitochondrial disease caused by mutations in polymerase gamma (PolG) have provided crucial insights into the mechanisms of disease, the important prognostic features and the potential treatments. In addition, he has described new syndromes including the first disorder linked to endocannabinoid metabolism and one that links amyloid metabolism and mitochondria.
Francesco De Rubertis, Ph.D
Dr. Francesco De Rubertis has been a leader in global biotech and life-sciences investments for more than two decades. A co-founder and Partner at Medicxi, he was a Partner at Index Ventures for 19 years, having joined the firm in 1997 to launch its life sciences practice. Francesco currently serves on the boards of various portfolio companies including Rivus Pharmaceuticals, and is Chairman of Centessa Pharmaceuticals. His prior investments include CellZome (acquired by GlaxoSmithKline), GenMab (Copenhagen: GEN.CO), GenSight Biologics (Euronext: SIGHT), Micromet (acquired by Amgen), Minerva Neurosciences (NASDAQ:NERV), Molecular Partners (Swiss:MOLN.SW), PanGenetics (acquired by Abbott), Parallele Biosciences (acquired by Affymetrix), Profibrix (acquired by The Medicines Company), Versartis (NASDAQ:VSAR). Francesco received a B.A. in Genetics and Microbiology from the University of Pavia and a PhD in Molecular Biology from the University of Geneva after which he became a postdoctoral scientist at the Whitehead Institute at M.I.T. A Chartered Financial Analyst, Francesco has served on the main board of the University of Geneva. In November 2017 he was named to the first "Bloomberg 50” as one of the Top 50 entrepreneurs and innovators helping to define Global Business in 2017.
Jörg Duschmalé, Ph.D.
An organic chemist by training, Dr. Duschmale completed his Ph.D. thesis at the University of Basel and the ETH Zürich investigating the catalytic properties of short peptides. He then switched his interests to the other natural oligomers when he started his career at Roche Pharmaceutical Research and Early Development within the field of RNA therapeutics, where he was working on the chemical modification of antisense oligonucleotides. His research there contributed to several portfolio projects and resulted in the publication of a peer-reviewed article and the filing of seven patent applications. More recently, he left laboratory work and joined the board of directors of Roche as a representative of the founding families. He has a keen scientific interest in rare diseases and combines a deep understanding of the drug discovery process with a long family tradition in not-for-profit endeavors.
Federico Mingozzi, Ph.D.
Dr. Federico Mingozzi is the Chief Science & Technology officer at Spark Therapeutics. He has more than twenty-five years of experience in gene therapy, immunology, biochemistry and molecular biology in both industry and academic settings. He began his scientific career studying the genetic basis of bleeding disorders. At the Children’s Hospital Philadelphia (CHOP) he conducted pioneering studies on liver gene transfer with adeno-associated virus (AAV) vectors and immunology. Federico was involved in several first-in-human clinical studies of gene therapy based on the AAV vector platform while serving as the director of translational research at CHOP’s Center for Cellular and Molecular Therapeutics. He then joined the French National Institute of Health and Medical Research (INSERM) as Research Director, as well as Genethon — a leading French nonprofit R&D organization focused on gene therapy for rare diseases — as Team Leader. There, he spearheaded the development of in vivo gene therapies for inherited diseases from bench to bedside, while continuing to focus on the characterization of human immune responses to AAV vectors and the development of strategies to overcome immune responses in gene transfer. Throughout his distinguished career, Federico has received several awards and has contributed to the field of gene therapy with more than one hundred and fifty scientific publications, including seminal findings in the field of AAV gene therapy. He is also the at-large director of the American Society of Gene and Cell Therapy (ASGCT) board of directors. Federico received his bachelor’s degree in biology and his Ph.D. in biochemistry and molecular biology from the University of Ferrara in Italy, and his M.B.A. from Drexel University. He served as faculty at the Pierre and Marie Curie University in Paris, France, and Universitat Autonoma of Barcelona, Spain.
Arnold Munnich M.D., Ph.D.
Pediatrician and Geneticist, Arnold Munnich is the creator and Head of the Department of Medical Genetics at the Necker-Enfants malades Hospital in Paris. After an internship at the Paris hospitals (1975) and a thesis of sciences (1988) at the Cochin Institute under the direction of Axel Kahn, he was named professor of genetics at the Paris Descartes University in 1989. He made his clinicat (1986-1990) at the Necker Hospital in Paris. He directed the INSERM "Genetic Disorders of the Child" unit until 2014. Doctor of Medicine, Doctor of Science and Professor of Genetics at the Paris Descartes University since 1989, Arnold Munnich devoted his research to the identification of genes responsible for the neurological, metabolic and malformative handicaps of the child. In 2016, he was elected President of the Imagine Institute of Genetic Diseases, which he co-founded in 2007 with Professors Claude Griscelli and Alain Fischer in particular.
Brian Tseng, M.D., Ph.D.
As a board-certified M.D., Ph.D. pediatric neurologist/neuromuscular physician–scientist, Brian Tseng has led large cross-functional teams (Novartis, AveXis, Vertex) to develop and bring forward many new medicines approved for use in infants and children with rare disorders, in particular genetic disorders. As a retired vice president from two top R&D companies, he has deep experience in translational and clinical development of novel molecules (small, biologic, cell-based, AAV genetic replacement, and CRISPR-mediated gene editing) for children. He is currently an expert consultant with NDA Partners, LLC. His most recent clinical/academic practice has been at Massachusetts General Hospital/Harvard Medical School; he was previously at Children's Hospital Colorado. His physiology undergraduate degree is from University of California Berkeley and he has a Ph.D. in molecular biology from MD Anderson Cancer Center/University of Texas at Houston McGovern Medical School. Dr. Tseng also teaches in several medical schools, including at the Gates Foundation University of Siena, and volunteers on several boards of nonprofit patient advocacy foundations. He is on the Board of Directors for the Estes Valley Fire Protection District in Colorado. He is also a NOLS Wilderness Medicine first responder.
Doug Turnbull M.D., Ph.D.
Doug Turnbull is Emeritus Professor of Neurology at Newcastle University. Prior to retirement he ran the NHS Highly Specialised Service of Mitochondrial Disease, Director of the Wellcome Centre for Mitochondrial Research and Director MRC/BBSRC Centre for Ageing and Vitality.