SDS POPS
Global Patient Advocacy and Partnering Summit

Dr. Hars holds a Ph.D. in Molecular Biology from the University of Medicine and Dentistry of New Jersey, where she studied cancer and leukemia.  She has over 20 years of experience in scientific research and the biotech industry.  As VP of Regulatory Affairs at CytoVera Inc., a lab equipment developer for hematopoietic stem cell banking, Dr. Hars was in charge of regulatory approval of medical devices by the U.S. Food and Drug Administration.  Dr. Hars has also managed business development as well as customer relationships at Quosa Inc., an information technology company, which was acquired in 2012 by Elsevier, the largest scientific publisher in the world.   Dr. Hars has been engaged in SDS community building and volunteering wherever possible since her daughter was diagnosed with Shwachman-Diamond Syndrome (SDS) in 2015. In 2020, Dr. Hars founded the SDS Alliance, a 501(c)(3) nonprofit organization serving the global SDS community. Through the SDS Alliance, Dr. Hars is dedicated to accelerating the development of new therapies for SDS.

Dr. Bezzerri's research interest is mainly focused on the molecular mechanisms underlying the pathogenesis of inherited bone marrow failure syndromes (IBMFS), specifically in regards to the Shwachman-Diamond syndrome. In addition, my group is investigating the effect of PTC-readthrough inducer drugs (e.g. ataluren) on the restoration of nonsense mutated SBDS gene expression and function. Dr. Bezzerri has a broad scientific background in applied medical sciences, with specific training and expertise in molecular pathology. He has been working as PI, co-PI or co-investigator in several grants funded by the Italian Ministry of Health, the Italian Cystic Fibrosis Foundation, and the Italian Association for Shwachman-Diamond syndrome (AISS). From 2018 to 2021 I have directed the laboratory of the Cystic Fibrosis Center of Ancona, Italy, coordinating a team involved in basic research on rare diseases. Since 2022, he hase been working as Head of preclinical research lab at Cystic Fibrosis Center Regione Veneto (Verona, Italy). His research interests are mainly focused on nonsense mutation suppression therapies for Cystic Fibrosis and Shwachman-Diamond syndrome. In 2017 he established a scientific collaboration with Prof. Seth J Corey (Cleveland Clinic, USA) to understanding the molecular mechanisms that underlie bone marrow failure and leukemogenesis in Shwachman-Diamond syndrome. This fruitful collaboration is still ongoing and is producing promising results. In 2020 he joined the European COST Action on chronic neutropenia (EuNet-INNOCHRON), collaborating with some of the most reputable European hematologists. From 2021 to 2024 he co-chaired the Young Committee of the EuNet-INNOCHRON Action. Together with Dr. Cipolli, Director of the Cystic Fibrosis Center Regione Veneto, they are currently studying the possible involvement of cellular senescence in CF airways. This intriguing hypothesis might open a wider scenario in the therapeutic approaches for CF, in particular in the field of anti-inflammatory treatments. Together with Dr. Theo Moraes (CFIT, SickKids, Toronto, Canada) and Prof. Scott Randell (UNC at Chapel Hill, USA) they have set up a substantial network based on full sharing of ideas and projects aimed at understanding the inflammatory process associated with Cystic Fibrosis.

Daniel E. Bauer, MD, Ph.D., is the director of the Gene Therapy Program, staff physician, and principal investigator in Pediatric Hematology/Oncology at the Boston Children’s Hospital and Dana-Farber Cancer Institute; the Donald S. Fredrickson, MD, associate professor of Pediatrics at Harvard Medical School; principal faculty at the Harvard Stem Cell Institute; and associate member at the Broad Institute of Harvard and MIT. Dr. Bauer is a physician-scientist whose laboratory research focuses on genetic determinants of blood cell development and disease and opportunities for innovative therapies for hematopoietic disorders. He has discovered the BCL11A erythroid enhancer as a favorable target for therapeutic genome editing for the β-hemoglobinopathies sickle cell disease (SCD) and transfusion-dependent β-thalassemia (TDT), now validated by several clinical trials (NCT03745287, NCT03655678, NCT04211480, NCT03653247). Dr. Bauer has developed methods for highly efficient, penetrant, and specific nuclease and base editing in human hematopoietic stem cells and advanced functional genomic methods to correlate genotypes with molecular, cellular, and organismal phenotypes with high precision and resolution. He has identified a therapeutic gene editing strategy for universal amelioration of ELANE-mutant severe congenital neutropenia, described a core NuRD subcomplex and uncovered ZNF410 as a transcription factor critical for fetal hemoglobin (HbF) repression, and demonstrated how human genetic diversity alters off-target outcomes of therapeutic gene editing. He is developing investigator-initiated clinical trials, as sponsor, for hemoglobinopathies and inherited bone marrow failure disorders. Dr. Bauer's clinical work focuses on the care of patients with nonmalignant blood disorders. He teaches undergraduate, graduate, medical students, residents, and fellows. He directs a hospital-based gene therapy program and chair an IRB scientific review committee for cell and gene therapies. Dr. Bauer peer reviews grants and manuscripts and serve on the NHLBI SCD Advisory Committee. For the American Society of Cell and Gene Therapy, he is a member of the editorial board of Molecular Therapy, chair of the Stem Cell Committee, and has served as abstract reviewer, poster reviewer, committee member, and workshop organizer.

Dr. Barry a postdoctoral researcher at Boston Children’s Hospital and Massachusetts General Hospital, advised by Dan Bauer, Luca Pinello, and Danilo Pellin. He obtained his PhD in Statistics at Carnegie Mellon University. He likes to work within the connective tissue that binds together the statistical, biological, and computational sciences, and is especially interested in statistical problems arising in the context of CRISPR screen analysis and CRISPR therapeutic development. Areas of methodological focus include independence and conditional independence testing, multiple testing, efficient algorithms for genomics, and (more recently) deep learning.

Professor Andrew Elefanty is the Group Leader of the Blood Diseases Laboratory at the Murdoch Children’s Research Institute (MCRI). Prof Elefanty's research focuses on the differentiation of human pluripotent stem cells to understand and model blood diseases in vitro and for transplantation. Together with the laboratories of Professor Ed Stanley (Immune Development group) and Dr Elizabeth Ng (Blood Development group) at MCRI, Prof Elefanty has made important contributions to the generation of genetically modified human stem cell lines in which lineage-specific fluorescent reporters allow monitoring of differentiation. After training as a physician, Professor Elefanty completed a PhD in leukaemogenesis at the Walter and Eliza Hall Institute of Medical Research supervised by Professor Suzanne Cory. He subsequently worked on globin gene regulation with Professor Frank Grosveld at the National Institute for Medical Research in Mill Hill, London before returning to the Hall Institute to pursue interests in developmental haematopoiesis and the differentiation of mouse embryonic stem cells. He moved to Monash University in 2002 to initiate studies with human embryonic stem cells. In 2013, his laboratory relocated to the Murdoch Children’s Research Institute. In collaboration with Dr Elizabeth Ng and Prof Ed Stanley, he has focused on haematopoietic differentiation of human pluripotent stem cells.

A/Prof Elizabeth Ng is a Group Leader in the Blood Development Laboratory at MCRI. She completed her undergraduate degree at the University of Melbourne and received her PhD from Monash University. Elizabeth’s research uses induced pluripotent stem cell (iPSC) technology to investigate haematopoietic stem cell (HSC) formation during human development and to translate that to the in vitro differentiation of iPSCs to blood lineages. A major focus of her work is the generation of transplantable haematopoietic stem cells (iHSCs) from human iPSCs for tissue repair and regeneration, disease modeling and the testing of pharmaceuticals and other therapeutic products. She has devised and patented protocols for haematopoietic differentiation together with a differentiation medium that supports the efficient production of large numbers of blood cells. APEL medium has been licensed and commercialised by STEMCELL Technologies. Together with long term collaborators Prof Andrew Elefanty and Prof Ed Stanley, her work showed that expression of the HOXA genes during differentiation identified haematopoietic cells with a transcriptional profile similar to blood cells seen in the aorta-gonad-mesonephros (AGM) region of the human embryo. In 2024 she published the first systematic method for generating transplantable HSCs from human iPSCs (iHSCs) which can be clinically translated to provide a source of personalised CD34+ iHSCs. She aims to understand the mechanisms that underlie iHSC maturation and to develop in vitro bone marrow-like 'niches' to sustain them. Her work is supported by grants from the NHMRC and the MRFF, a licensing agreement with Retro Biosciences, Inc, and the Novo Nordisk Fondation Center for Stem Cell Medicine, with whom she is a Principal Investigator.

Dr. Sabatino is a research assistant professor of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania and Children's Hospital of Philadelphia. Dr. Sabatino completed her undergraduate studies at The Ohio State University and earned her PhD in Genetics at The George Washington University/National Institutes of Health in the laboratory of Dr. David Bodine at National Human Genome Research Institute. During her postdoctoral fellowship with Dr. Katherine High at Children's Hospital, Dr. Sabatino investigated gene transfer for hemophilia B using adeno-associated viral (AAV) vectors. She joined the faculty at the University of Pennsylvania School of Medicine in 2008 in the Department of Genetics. In 2010 she joined the Department of Pediatrics and became a member of the Division of Hematology and the Raymond G. Perelman Center for Cellular and Molecular Therapeutics at CHOP. She continues her research into hemophilia, specifically the variants of coagulation factor VIII, to identify novel variants with enhanced function with an eye toward developing gene-based therapeutic approaches for the condition.

Kendall Davis, MPH earner her Masters of Public Health, Public Health, psychology, social and behavioral determinants of health from Michigan State University. He currently serves as the Head of Clinical Engagement at Sano Genetics since July 2025. Alongside this role, Kendall is a Board Member of Team Telomere, a nonprofit dedicated to supporting families affected by Dyskeratosis Congenita and related disorders. Prior experience includes positions as Director of Advocacy & Engagement Strategy at ICON plc, Early Development Lead for Patient Advocacy at Spark Therapeutics, Patient Advocacy Strategy Lead at PRA Health Sciences, and Director of Strategic Alliances at Global Genes. Kendall has also worked as a HCV Community Educator and Patient Advocate at AbbVie and as a Health Educator at Beacon Therapeutic.

Joe Katakowski, Ph.D., is responsible for leading the development strategy and internal R&D efforts for projects within the RTW Foundation portfolio. Prior to joining RTW Foundation, Joe was a staff scientist at Regeneron where he led a team focused on preclinical development of gene therapies and AAV vector engineering. Before Regeneron, Joe was a principal scientist at Pfizer where he developed and led multiple immuno-oncology programs from early-stage discovery up to IND application, working with a diverse array of modalities including lipid/polymeric nanoparticles, PROTACs, ADCs, antibodies, and small molecules. Prior to Pfizer, Joe was a senior scientist at Innovimmune, a biotech startup. During his PhD, Joe developed unique delivery technologies for nucleic acid-based drugs, seeking to modulate immune responses for autoimmune and oncology indications. His PhD work led to two separate first author publications in Molecular Therapy, as well as additional publications throughout his research career. Joe has a BS in human biology from Michigan State University, a MS in cellular & molecular biology from Eastern Michigan University and a PhD in immunology & biomedical sciences from the Albert Einstein College of Medicine.

Dr. Merker is a health services researcher committed to improving healthcare delivery for people with rare diseases by leveraging information collected directly from patients and their family members. Her research is focused on improving the accessibility, quality, and patient-centeredness of care for patients with rare diseases like NF and other cancer predisposition disorders. She uses qualitative and mixed methods to understand patients’ healthcare needs and experiences; develops and analyzes patient-reported outcome measures for use in clinical trials; and she engages patients as partners in the design and conduct of her research.

Rebecca first connected with the SDS Alliance after her son Declan was diagnosed with Shwachman-Diamond Syndrome. She and her network quickly jumped into action and fundraising to help accelerate research. They have participated in several editions of the Million Steps Closer to #CureSDS fundraiser organized by the SDS Alliance, encouraged workplace giving, took advantage of employer matching, and organized their own fundraisers, such as a hockey game fundraiser that is highlighted in the recent documentary about SDS, title "Until There's a Cure".