Maria Grazia Roncarolo received her MD degree from University of Turin in 1982. After completing her residency at the University of Turin in 1986, she had a fellowship at the University of Milan School of Medicine until 1990. She spent her early career in Lyon, France, where she focused on severe inherited metabolic and immune diseases, including severe combined immunodeficiency (SCID), better known as the "bubble boy disease." Dr. Roncarolo was a key member of the team that carried out the first stem cell transplants given before birth to treat these genetic diseases. While studying inherited immune diseases, Dr. Roncarolo discovered a new class of T cells. These cells, called T regulatory type 1 cells, help maintain immune system homeostasis by preventing autoimmune diseases and assisting the immune system in tolerating transplanted cells and organs. Dr. Roncarolo worked for several years at DNAX Research Institute for Molecular and Cellular Biology in Palo Alto, where she contributed to the discovery of novel cytokines, cell-signaling molecules that are part of the immune response. She studied the role of cytokines in inducing immunological tolerance and in promoting stem cell growth and differentiation. Dr. Roncarolo developed new gene-therapy approaches, which she pursued as director of the Telethon Institute for Cell and Gene Therapy at the San Raffaele Scientific Institute in Milan. She was the principal investigator leading the successful gene therapy trial for SCID patients who lack an enzyme critical to DNA synthesis, which is a severe life-threatening disorder. That trial is now considered the gold standard for gene therapy in inherited immune diseases. Under her direction, the San Raffaele Scientific Institute has been seminal in showing the efficacy of gene therapy for otherwise untreatable inherited metabolic diseases and primary immunodeficiencies. In 2014 she joined the pediatric faculty of Stanford University. she is the Co-Director of the Institute for Stem Cell Biology and Regenerative Medicine, the George D. Smith Professor in Stem Cell and Regenerative Medicine, Professor of Pediatrics and of Medicine (blood and marrow transplantation), Chief of the Division of Pediatric Stem Cell Transplantation and Regenerative Medicine, and Co-Director of the Bass Center for Childhood Cancer and Blood Diseases.
Dr. Roncarolo's goal at Stanford is to build the teams and infrastructure to move stem cell and gene therapy to the clinic quickly and to translate basic science discoveries into patient treatments. In addition, her laboratory continues to work on T regulatory cell-based treatments to induce immunological tolerance after transplantation of donor tissue stem cells. In Nature Medicine, Dr. Roncarolo recently published her discovery of new biomarkers for T regulatory type 1 cells, which will be used to purify the cells and to track them in patients. She also is investigating genetic chronic inflammatory and autoimmune diseases that occur due to impairment in T regulatory cell functions.
Rosa recived her MD from the University of Turin in 1987. She completed a fellowship in general pediatrics immunology at the University of Turin in 1991. Following the completion of her pediatrics residency, Rosa received training in molecular and cellular immunology in France (UNICET, Lyon) and the United States (DNAX Research Institute of Molecular and Cellular Biology, Palo Alto) There, she was first exposed to the importance of integrating in depth laboratory research with clinical observations to develop a translational research approach to science. She worked for fifteen years at the San Raffaele Scientific Institute in the Telethon Institute for Gene Therapy (HSR-TIGET), where she focused on dissecting the genetic and immunological basis of primary immunodeficiencies with autoimmune manifestations that might be treated by gene therapy.
Her research challenges the limits of "inexplicable" and "untreatable" diseases, and apply current scientific knowledge to understand the mechanisms of impaired cellular immune function underlying the clinical manifestations in order to develop curative treatments. She investigates the genetic and immunological basis of diseases with autoimmunity or immune dysregulation in children. she believes that much can still be learned from the in depth mechanistic studies of pediatric autoimmune diseases. Genomic analysis of the patients' samples has become possible which may provide a rapid indication of altered target molecules. She plans to implement robust functional studies to define the consequences of these genetic abnormalities and bridge them to the patient's clinical phenotype. Understanding functional consequences of gene mutations in single case/family first and then validating the molecular and cellular defects in other patients with similar phenotypes, will anticipate and complement cellular and gene therapy strategies.
Dr. Bertaina was Head of the Stem Cell Transplant Unit in the Department of Hematology and Oncology at the Bambino Gesù Children’s Hospital in Rome (this institution currently has the largest number of children transplanted with hematopoietic progenitors/stem cells in Europe). She completed her MD degree at the University of Pavia in Italy, her fellowship in hematopoietic stem cell transplantation (HSCT) at the Bambino Gesù Children’s Hospital in Rome, and her PhD degree in Immunology and Biotechnology at Tor Vergata University in Rome.
Dr. Bertaina is a well known expert in the field of allogeneic HSCT in pediatric patients affected by hematological malignancies or nonmalignant disorders. In particular, she has largely contributed to set-up the novel approach of graft manipulation based on the physical elimination of alfa/beta T cells and B cells. Dr. Bertaina has an excellent both clinical and biological expertise, as documented by the several papers that she has published in the field of pediatric hematology and oncology. Moreover, she has developed a robust expertise in the knowledge of the different aspects of immunological reconstitution of children given an allograft of hematopoietic stem cell, paying peculiar attention to the innate immunity.
Agnieszka Czechowicz received her MD and PhD degrees from Stanford University School of Medicine in 2010/2011; completing graduate research with Prof. Irv Weissman in Developmental Biology and was both an HHMI and Soros Fellow. Subsequently she completed her pediatrics residency at Boston Children’s Hospital and was a clinical fellow in pediatric hematology/oncology at the Dana Farber Cancer Institute, while simultaneously pursing postdoctoral research with Prof. Derrick Rossi at Boston Children’s Hospital/Harvard Medical School/Harvard Stem Cell Institute and was an Amy Potter Fellow. She recently returned back to Stanford University in 2017 to join the pediatric stem cell transplant faculty.
Agnieszka has long been interested in how hematopoietic stem cells interact with their microenvironment and the principles guiding hematopoietic stem cell engraftment in bone marrow transplantation. She has done pioneering work highlighting that host hematopoietic stem cells limit donor stem cell engraftment and has developed several novel antibody-based conditioning regimens to overcome this challenge, the most advanced of which is being tested in clinical trials at Stanford in immunodeficiency patients undergoing stem cell transplants. She is passionate about teaching and mentoring trainees at various levels, and also is a champion of bridging science and medicine through developing innovative new therapies.
Roberson Parkman received his MD degree from Yale University in 1965 and after completing his residencies at Yale and the Children’s Hospital Boston and a research associateship at the National Institutes of Health, he joined the faculty of the Harvard Medical School where he helped establish the bone marrow transplant programs at the Childrens Hospital and the Peter Bent Brigham Hospital.. In 1983 he moved to the Children’s Hospital Los Angles where he established the bone marrow transplantation and research immunology programs. In 2014 he joined the pediatric faculty of Stanford University.
His research interests have been the assessment of the immunological consequences of hematopoietic stem cell transplantation including both acute and chronic graft versus host disease and immune reconstitution and the use of hematopoietic stem cell transplantation to treat genetic diseases. His laboratory was the first to suggest that chronic graft versus host disease was an autoimmune disease directed at histocompatibility antigens shared by donors and recipients. The observation leaded to the assessment of the role of thymic dysfunction in the pathogenesis of chronic graft versus host disease. As a pediatric immunologist he has clinically investigated the potential of hematopoietic stem cell transplantation to treat initially primary immune deficiency diseases and later the metabolic diseases, which lead to his involvement in the early gene transfer clinical trials.
Matthew Porteus MD, PhD is an Associate Professor in the Department of Pediatrics and Institute of Stem Cell Biology and Regenerative Medicine at Stanford. He graduated Magna Cum Laude from Harvard University with a degree in “History and Science” for which he wrote his undergraduate thesis on social dimensions of the recombinant DNA controversy in the early 1970’s. He then received his MD/PhD degrees from Stanford University. He completed his Pediatric residency training at Boston Children’s Hosptial at Harvard and then his specialty training in Pediatric Hematology/Oncology at Boston Children’s Hospital/Dana Farber Cancer Institute. He completed a post-doctoral research fellowship at the Caltech under the mentorship of Nobel Laureate Dr. David Baltimore.
His clinical interests on the Pediatric Stem Cell Transplant service are to develop improved methods of curing patients with genetic diseases using stem cell based therapies as well as reducing the complications from allogeneic stem cell transplants. His laboaratory research focus is on developing genome editing as an approach to cure disease, particularly those of the blood but also of other organ systems as well. His research program has made important discoveries in advancing the field of genome editing including the first use of genome editing using engineered nucleases in human cells and optimizing the use of the CRISPR/Cas9 system in primary human stem cells. His goal is to combine his research and clinical interests to bring innovative curative therapies to patients. He served on the National Academy Study Committee of Human Genome Editing.
I did my training in Pediatrics and Hematology/ Oncology at Childrens Hospital Los Angeles where I was an attending physician for 15 years.. I joined Stanford University in 2015 as a clinical attending in the Division of Stem Cell Transplantation and Regenerative Medicine. My areas of clinical expertise have been in the areas of transplantation for immune deficiencies and immune reconstitution post HSCT. I was involved with several clinical gene therapy trial for SCID and ALD. My other main areas of research have been in the neurocognitive function post HSCT. I have been involved with several national committees addressing the late effects of HSCT within the ASBMT and COG.
Katja Weinacht received her MD degree from Technische Universitaet Muenchen School of Medicine in 2002 and her PhD in medicine also from Technische Universitaet Muenchen in 2004. She was a postdoctoral fellow in the Channing Laboratory at Brigham and Women’s Hospital, Harvard Medical School and completaed her residency in pediatrics, at Massachusetts General Hospital, Harvard Medical School in 2009. She held a clinical pediatric fellowship in hematology/oncology at Boston Children’s Hospital, Dana-Farber Cancer Institute, Harvard Medical School from 2009-2012. Concurently, she held a research fellowship in pediatric immunology in the laboratory of Dr. Luigi D. Notarangelo at Boston Children’s Hospital, Harvard Medical School, from 2010-2012 where she acquired skills in the field of reprogramming, tissue engineering and gene correction. In 2016 she joined the pediatric faculty at Stanford University.
Her special interest in the niche of diseases that intersect immune dysfunction and primary immunodeficiency. Her clinical practice focuses on pediatric patients requiring a hematopoietic stem cell transplantation, patients with DiGeorge Syndrome and patients with genetic immune diseases presenting with autoimmunity. As a physician-scientist, she strives to advance our insights into the mechanisms leading to immunodeficiency, autoimmunity and tolerance on a molecular level and to translates her research into novel targeted therapies patients.
Dr. Weinberg recived his MD from Stanford University School of Medicine in 1978. Dr. Weinberg’s internship and residency in pediatrics was at the Montefiore Hospital and Medical Center from 1974-78, where he spent an additional year as Chief Resident. MHMC was a unique environment where daily advocacy for every child was instilled as an intrinsically worthy activity. During four monthly elective rotations at Memorial Sloan Kettering Cancer Center, he was exposed to children with cancer and felt called to a career in pediatric hematology-oncology. Dr. Weinberg’s fellowship was at Children’s Hospital Los Angeles from 1982-85. He entered the laboratories of Robertson Parkman and Peter Jones where he studied DNA methylation as a regulator of T-cell development by controlling expression of the T-cell receptor and CD3 complex. Dr. Parkman had just arrived at CHLA, and Dr. Weinberg was recruited as a faculty member in the newly formed Division of Research Immunology and Bone Marrow Transplantation.