Meet the Team
Professional Team
Eszter Hars, Ph.D.
Founder and CEO, Shwachman-Diamond Syndrome Alliance
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 hematopoeitic 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. Currently, Dr. Hars is President of a biotech startup that specializes in developing new tools for various new therapies, including CAR-T cell cancer therapy and beta cell replacement therapy for diabetes.
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. Through the SDS Alliance, Dr. Hars is dedicated to accelerating the development of new therapies for SDS.
Ashley Thompson, MS, CGC
Genetics Project Manager, Shwachman-Diamond Syndrome Alliance
Ashley Thompson, MS, CGC is a board-certified genetic counselor who received her Master of Science in Genetic Counseling from Bay Path University (Longmeadow, Massachusetts) in 2023 and now works in variant interpretation. She received her B.S. in Biochemistry from Converse College (Spartanburg, SC) in 2018 and graduated with honors in the field of chemistry. During her undergraduate career, Ashley was an NIH Undergraduate Scholarship Program Awardee for her efforts in biomedical research and selected for a position as a post-baccalaureate research fellow at the National Cancer Institute (NCI). From 2018 until 2023, Ashley studied the clinical genetics, epidemiology, and psychosocial impact of hereditary cancer predisposition syndromes. She was the first-author on several manuscripts including a cohort review aimed at investigating the relationship between SBDS variants and the clinical presentation of individuals with SDS participating in the NCI Natural History Study for Inherited Bone Marrow Failure Syndromes.
During her fellowship at the NCI, Ashley's exposure to the critical role genetic counselors play in both research and the lives of those with a hereditary predisposition to cancer inspired her to become a genetic counselor herself. She is excited to contribute to the SDS community and enjoys volunteering with patient advocacy groups. She currently lives in the Washington, DC area and enjoys baking, trying new foods, and hiking with her dog, Julep, in her free time.
Ashley Ferreira, BA, MPA
DEI and Community Engagement Project Manager, Shwachman-Diamond Syndrome Alliance
Ashley Ferreira joined the SDS Alliance in March 2023 as our Project Manager of Stakeholder Engagement. Ashley earned a Master of Public Administration (MPA) degree from California State University in 2019 and has nearly 10 years of experience in community and patient engagement, including leading Diversity, Equity, and Inclusion initiatives and the national Walk for PI program at the Immune Deficiency Foundation. As a caregiver to several family members with chronic health issues, she is passionate about ensuring patients and caregivers have access to the resources they need to be their own best advocates, participate in research to accelerate treatments, and come together to raise awareness for their communities. She lives in Southern California with her family and several treasured rescue cats.
Superstar Volunteers and Global Ambassadors
Jacquelyn Kaufmann Poarch
Chair of the Adult SDS Patient Council, SDS Alliance
Support Groups Lead
Jacquelyn Poarch is an adult with SDS, who was diagnosed by Dr Harry Schwachman in 1976. She has been active in patient advocacy for over 25 years.
Ms Poarch is a multi-subject certified teacher, who concentrates on science education, primarily secondary and tertiary school Biology, and Anatomy and Physiology, and Medical Terminology. She has had an eclectic career path, including as an opera singer in Europe, flying airplanes, and working in commercial aviation, as a social worker for the US Navy, and for the last 25 years, as a teacher. During the Balkan War, she formed a 501c3, and went to Bosnia, and removed 98 teens, placed them with American families, and in high schools so they could survive, and be educated. Ms Poarch has attended, and holds degrees and licenses from such diverse institutions as Universität Mozarteum, Salzburg, Austria, Manhattan School of Music (US), Columbia University (US), Stony Brook University (US), and Cambridge University (UK).
She is a licensed phlebotomist, and a HIPAA educator, and speaks twelve languages. She is the mother of a daughter with an unrelated rare disease.
In her role at the SDS Alliance, she manages the Adult SDS Patient Council, and finds, engages, and supports adult patients worldwide. We invite all adult SDS patients to participate and join the Adult SDS Patient Council.
Lisa Superina
SDS Alliance Ambassador: US
Family and Community Engagement & Fundraising Lead
Lisa lives on Long Island, New York, with her husband and four daughters. Her two youngest daughters, Nora and Kayla, were genetically diagnosed with SDS after an extensive diagnosis journey - read their story, here. Lisa is a Special Education Teacher at Half Hollow Hills High School West in Dix Hills, New York. She has certifications from Birth-12th grade in Special Education, General Education, and English Language Arts and has a master's degree in Literacy.
Lisa is passionate about helping the SDS community by supporting research and helping families advocate for their children. She jumped into action on the very same day her first child was diagnosed, raising funding, researching resources, and connecting with SDS families everywhere, and has not stopped ever since. Her drive and creativity have inspired countless other families to engage and she is an unstoppable positive driving force toward therapies and cures for people with SDS everywhere.
In her role at the SDS Alliance, she helps find and support new SDS families, identify and offer new resources for families, and develop family educational materials and events.
SDS Medical and Scientific Advisory Board
Professor Alan Warren
Professor of Haematology, Cambridge University Hospitals, UK
NHS Foundation Trust
Professor Warren obtained his undergraduate degrees in Biochemistry (1983) and Medicine (1986) at the University of Glasgow. He completed his PhD in Molecular Biology in 1995 in the laboratory of Dr. Terry Rabbitts at the MRC Laboratory of Molecular Biology where he discovered that the LIM-only protein Lmo2 is required for haematopoiesis. He is currently Professor of Haematology at the University of Cambridge, UK, Clinical Lead for Bone Marrow Failure and Myelodysplastic Syndromes at Cambridge University Hospitals, and elected Fellow of the Academy of Medical Sciences in 2005.
His lab is focused on ribosome biology and the clinical impact of its defects. Ribosomes are the universally conserved macromolecular machines that decode the mRNA to make proteins. Defects in the ribosome assembly process cause the 'ribosomopathies', a fascinating new group of human developmental disorders that perturb hamatopoietic stem cell function and promote progression to bone marrow failure, myelodysplastic syndrome and acute leukaemia. Professor Warren's lab discovered that defective assembly of ribosomes, the machines in all our cells that make protein, causes Shwachman-Diamond syndrome.
Timothy S. Olson, MD, PhD
Assistant Professor of Pediatrics at the University of Pennsylvania (UPENN), a Director of The Children’s Hospital of Philadelphia (CHOP)/UPENN Comprehensive BMF Center (CBMFC), and an Attending Physician in the Blood and Marrow Transplant Program at CHOP.
Dr. Olson’s career is dedicated to clinical care for patients with acquired and inherited bone marrow failure syndromes (BMF) - including Shwachman-Diamond Syndrome - and conducting basic, translational, and clinical research investigating disease mechanisms and methods to improve treatment for these patients. He is an Assistant Professor of Pediatrics at the University of Pennsylvania (UPENN), a Director of The Children’s Hospital of Philadelphia (CHOP)/UPENN Comprehensive BMF Center (CBMFC), and an Attending Physician in the Blood and Marrow Transplant Program at CHOP.
Dr. Olson's clinical efforts focus on pediatric hematopoietic stem cell transplantation (HSCT), with a specific emphasis on HSCT for patients with inherited and acquired bone marrow failure. Through his combined clinical activities in the Bone Marrow Failure Center within the Division of Hematology and the Blood and Marrow Transplant Section within the Division of Oncology, his goal is to facilitate outstanding care for patients with inherited bone marrow failure and acquired aplastic anemia during their transition from diagnostic evaluation to treatment through HSCT.
In coordination with these clinical efforts, his clinical research program seeks to retrospectively and prospectively assess HSCT outcomes for patients with inherited and acquired bone marrow failure syndromes and other non-malignant hematologic conditions, including sickle cell disease and thalassemia major. He is the lead/site Principal Investigator of several investigator-initiated and multicenter clinical trials of HSCT for these diseases, for which the ultimate goal is to define optimal approaches to transplant timing, donor choices, and graft engineering.
The goal of his laboratory research program is to improve HSCT outcomes by identifying methods to decrease the incidence of graft failure following HSCT, which is a particularly critical challenge in the setting of transplant for non-malignant conditions such as bone marrow failure. Methods are being examined to enhance donor hematopoietic stem cell engraftment efficiency following HSCT through enhancement of the functions of specialized areas of the bone marrow microenvironment, known as hematopoietic stem cell niches. Currently, therapeutic strategies are being tested that can be applied to enhance niche activity and receptivity for donor stem cells, which would in turn improve donor engraftment efficiency following clinical HSCT.
Dr. Lisa McReynolds
Assistant Clinical Investigator, National Cancer Institute (NCI),
Bethesda, MD, USA
Lisa J. McReynolds, M.D., Ph.D., joined the Clinical Genetics Branch of the National Cancer Institute (NCI) in 2016. She earned her M.D. and Ph.D. at Albert Einstein College of Medicine, where she studied cell signaling in a zebrafish model of hematopoiesis. Dr. McReynolds then completed a residency in pediatrics at Morgan Stanley’s Children’s Hospital of New York-Presbyterian Hospital and fellowship through the joint program of Johns Hopkins University and NCI, followed by a clinical and postdoctoral research fellowship at the National Institute of Allergy and Infectious Diseases (NIAID) focused on GATA2 deficiency, an inherited bone marrow failure and immunodeficiency disorder. As a clinical fellow under the mentorship of Sharon A. Savage, M.D., Director and senior investigator, CGB, she focused on gene discovery and genome characterization in marrow failure patients in the inherited bone marrow failure cohort.
Currently, Dr. McReynolds focuses on inherited predisposition to hematopoietic malignancies, in particular Shwachman-Diamond syndrome, incorporating genomics with epidemiology to understand their causes. Her research utilizes the Inherited Bone Marrow Failure Syndrome (IBMFS) and Transplant Outcomes of Aplastic Anemia (TOAA) cohorts to investigate the effect of both germline and somatic mutations on disease and transplant outcomes.
She also studies the prevalence of pathogenic germline variation and the penetrance of disease in hematological malignancy predisposition syndrome genes in the general population.
Dr. Kelly Walkovich
Associate Professor, Pediatric Hematology/Oncology; Executive Chair of NICER;
Director of the Immuno-Hematology Comprehensive Clinic;
University of Michigan, C.S. Mott Children's Hospital; Ann Arbor, MI, USA
Dr. Walkovich is a pediatric hematologist-oncologist for the University of Michigan Health System. She received her medical degree from the University of Michigan and completed her residency at the Children’s Hospital of Philadelphia and a fellowship in hematology/oncology at the University of Michigan Health System. She oversees the care of multiple SDS patients in her region and ensures that they receive state-of-the-art care.
Dr. Walkowitch launched the North American Immuno-Hematology Clinical Education & Research (NICER) Consortium and is now the Executive Chair. Spanning over 12 member medical institutions, the mission of the NICER consortium is to provide a collaborative multidisciplinary environment to advance the education, clinical care, and research involving pediatric and adult patients with immuno-hematologic disorders, including bone marrow failure disorders such as Shwachman-Diamond Syndrome. Some of the goals of NICER include leveraging the pooled, diverse resources of the members to create a platform for clinical trials, basic science, and translational research with the development of a clinically annotated database, biorepository and network of member centers unified via a central IRB, and partner with academic societies, institutes and patient-centric nonprofit like the SDS Alliance with mutual objectives, to empower the educational initiatives and accelerate research discoveries in areas related to immuno-hematology.
Professor Marc Raaijmakers
Professor of Hematology, Erasmus MC Cancer Institute, the Netherlands
Prof. Dr. Marc H.G.P. Raaijmakers, MD, Ph.D. is a professor of Hematology in the Department of Hematology at the Erasmus MC Cancer Institute, Rotterdam, the Netherlands. He received his MD from the University Utrecht and completed training in Internal Medicine and Hematology at the Radboud University Hospital in Nijmegen, the Netherlands.
He completed postdoctoral research at the Department of Stem Cell and Regenerative Biology at Harvard University and the Harvard Stem Cell Institute, revealing a concept of niche-induced oncogenesis in the hematopoietic system. He (co)-authored papers in leading journals including Nature, Cell, Cell Stem Cell, J. Exp. Med, Blood and Leukemia, served in the editorial boards and provided numerous invited lectures at international meetings, including the European and national societies of Hematology (U.S.A., France, Germany, Spain and Japan) as well as multiple sessions of the International Shwachman-Diamond Syndrome Congress.
He chairs the expertise center on Leukemia Predisposition Syndromes at the Erasmus MC Canncer institute and the EHA scientific working group on Rare Hematological Blood Cancers. His laboratory studies micro-environmental contributions to the pathogenesis of hematopoietic disease with an emphasis on the initiation and evolution of preleukemic disorders. He published several articles on Shwachman-Diamond Syndrome and lead the efforts for the development of several SDS research models.
His clinical focus is in bone marrow failure syndromes and acute myeloid leukemia.
Dr. Yigal Dror
Head of the Haematology & Director of the Marrow Failure and Myelodysplasia Program at Sick Children, Toronto, Canada
Dr. Yigal Dror is the Head of the Haematology Section and Director of the Marrow Failure and Myelodysplasia Program, senior scientist at the Genetics and Genome Biology Program at The Hospital for Sick Children, Toronto, and a member of the Institute of Medical Sciences at the University of Toronto. Dr. Dror graduated from the Hadassah Medical School of the Hebrew University in Jerusalem, and completed pediatric residency in Kaplan Hospital, Rehovot, Israel. He completed clinical fellowship in pediatric hematology/oncology and a post-doctoral research fellowship in the field of hematopoiesis and marrow failure syndromes/myelodysplasia at SickKids hospital, Toronto. In 2000 Dr. Dror assumed his current position as a clinician scientist at SickKids.
His main clinical interests are in the area of bone marrow failure and myelodysplastic syndrome, in particular Shwachman-Diamond Syndrome (SDS). His research focuses on characterization of stem cells and blood cells in these conditions, genetic etiologies and clinical outcome. He heads the Canadian Inherited Marrow Failure Registry. Dr. Dror’s lab focuses on various signaling pathways in SDS and other inherited bone marrow failure syndromes (IBMFs), including originating from ribosomal and telomere defects. The main SDS gene (SBDS) was identified by Dr. Johanna Rommens at SickKids, and Dr. Dror later also identified DNAJC21 as the second gene associated with SDS. His lab showed that IBMFS are associated with high risk (37%) of clones/MDS/AML in childhood, and found that SDS marrows are characterized by stromal dysfunction, increased angiogenesis and abnormal leukemia-gene expression in marrow progenitor cells.
Dr. Johnson Liu
Professor of Medicine (Hematology and Medical Oncology) and Section Head for Hematology within the Division of Hematology and Medical Oncology. Mount Sinai, New York, USA
Johnson M. Liu, MD, is Professor of Medicine (Hematology and Medical Oncology) and Section Head for Hematology within the Division of Hematology and Medical Oncology. Prior to joining Mount Sinai, Dr. Liu was at Maine Medical Center, where he held the Conley Family Endowed Chair in Hematology and served as Division Director of Hematology. His career has taken him to the National Heart, Lung, and Blood Institute; Albert Einstein College of Medicine; and the Zucker School of Medicine at Hofstra/Northwell, where he held the Les Nelkin Endowed Chair in Pediatric Oncology. He also was Associate Professor of Medicine and Director of Research with the Stem Cell Transplantation Program at Mount Sinai from 2002 to 2005. Dr. Liu's research interests include molecular hematopoiesis and development, gene and cell therapy, bone marrow failure syndromes, genetic blood disorders, and transition of patients from pediatric to adult medicine.
Dr. Liu joined Maine Medical Center and MaineHealth Cancer Care in Portland in 2019, Maine, after serving as an attending physician at Monter Cancer Center, Long Island Jewish Medical Center, New York, for many years. He taught at the Zucker School of Medicine at Hofstra/Northwell, leading the hematology curriculum. He earned his MD degree from the University of Michigan Medical School and completed his residency at the Medical University of South Carolina and the National Institutes of Health. Dr. Liu was also a medical and hematology fellow and investigator at the National Institutes of Health, Bethesda, Maryland. His clinical interests include general hematology (anemia, thrombocytopenia, disorders of coagulation), bone marrow failure syndromes, myelodysplastic syndromes, acute and chronic leukemia, and multiple myeloma.
He has played an instrumental role in the 2011 International SDS Congress and publishing the consensus guidelines for the diagnosis and treatment of Shwachman-Diamond Syndrome (see here), and has been caring for multiple adult SDS patients while practicing in NY.
Dr. Coleman Lindsley
Assistant Professor, Medicine, Harvard Medical School
and Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA
Dr. Coleman Lindsley, M.D., PhD. is a physician scientist at Dana-Farber Cancer Institute, specializing in research topics associated with MDS. His career has developed in conjunction with his interest in how disease evolves, and in turn, how new and existing therapies can interrupt the process of disease progression. The clinical research focus he has chosen in addressing problems with MDS has led to work in two important areas; examining how the fundamental properties of MDS change over time, and the features of MDS that cause resistance to therapy. Dr. Lindsley’s efforts include longitudinal studies of individual MDS patients over time to track how their disease progresses, as well as large studies aimed at identifying shared genetic characteristics that may indicate patients’ responsiveness or resistance to therapies offered.
The primary focus of the Lindsley laboratory is the biology and treatment of myeloid malignancies. We have used detailed genetic analysis of large cohorts of patients with myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) to define genetic pathways of disease ontogeny and to identify mutations that predict overall survival after chemotherapy and stem cell transplantation. We use mouse and cell line models to dissect the mechanistic basis of genetic cooperation during myeloid disease progression, with a specific focus on mutations that cause epigenetic alterations.
Dr. Christian Brendel
Assistant Professor of Pediatrics at Dana-Farber/Boston Children's Hospital Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA, USA
Dr. Christian Brendel is Assistant Professor of Pediatrics at Dana-Farber/Boston Children's Hospital Cancer and Blood Disorders Center, Harvard Medical School. Dr. Brendel’s research focuses on gene therapy for inherited diseases of the blood system. He contributed to the development and clinical translation of lentiviral gene therapies for X-CGD and Sickle Cell Disease, and his current research includes genome editing and the design of new delivery tools to make future gene therapies safer, more effective, and accessible, with the current focus on developing therapeutic options for Shwachman-Diamond Syndrome. He has been a wonderful partner and advisor to us, sharing his insights into possible strategies and roadblocks for gene therapy for SDS, as well as sharing his insights with patients at meetings. He works in close collaboration with Dr. David Williams' laboratory, the SDS registry, and multiple investigators in the area.
Strategy and Methods Expert Advisory Board
Dr. Vanessa L. Merker, PhD
Director of Research, The Family Center for NF & SWM at Massachusetts General Hospital, and
Assistant Professor of Neurology, Harvard Medical School
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.