Bloom Research Exchange: Bloom-Rx

Kenn joined Ozgene in 2025 as Scientific Director, Strategic Partnering. He is a strong advocate for the power of mouse models to further our understanding of biology and disease and to expedite the drug discovery process. Kenn received his Ph.D. in Genetics from the University of Connecticut. He was a Postdoctoral Fellow at The Jackson Laboratory, where he developed hands-on skills generating and analyzing genetically engineered mice and learning the intricacies of mouse genetics and husbandry. From JAX, he moved to Boston University School of Medicine to establish his own lab and became Scientific Director of the Transgenic Core. In 2017, he was recruited by Taconic Biosciences and entered the biotechnology industry.

Ramsay studied medicine at the University of Cambridge and went on to specialise in Clinical Genetics. Her interest in DNA repair was sparked by her PhD supervised by Professor Sir Steve Jackson. Returning to a clinical academic role at the University of Cambridge, Dr Bowden developed her own translational research programme focused on understanding genome instability in individuals with DNA repair disorders, particularly Bloom Syndrome, Fanconi Anaemia and Ataxia Telangiectasia. She works with the UK National Bloom Syndrome Clinical Service and is a member of the Bloom Syndrome Association Research Council.

Chris Brünger, MD, German national, long-term resident in Japan, member of Japanese Bloom Syndrome family through my wife. BSA Japan coordinator.

Internist (focus GI oncology, Essen University, Germany; Fujita Health University, Nagoya; Keio University, Tokyo) and pharmaceutical physician with international drug development experience in big Pharma (Schering AG, Pharmacia), consulting for Pharma/Biotech and for NPO Drugs for Neglected Diseases initiative, Geneva.

Mary Beth Campbell serves as a Research Executive for the Bloom Syndrome Association, where she helps advance patient-centered research strategy, registry development, scientific convenings, and collaborations across the Bloom syndrome research community. She previously served on the BSA Board of Directors from 2018-2024, including as Board Chair from 2022-2024. In 2017, she co-organized a Bloom syndrome research workshop that led to a peer-reviewed publication outlining patient-community research priorities. Mary Beth is also an Entrepreneur-in-Residence at Caltech and received her Ph.D. in Applied Physics from Harvard University as a National Defense Science and Engineering Fellow.

Vivian Y. Chang, MD, MS is a pediatric hematologist-oncologist at UCLA who specializes in inherited cancer predisposition syndromes, including Bloom syndrome. She leads a research laboratory investigating how defects in DNA repair contribute to leukemia development and treatment-related toxicity, with the goal of developing new strategies to prevent cancer and improve outcomes. Dr. Chang serves on the Research Council of the Bloom Syndrome Association and is committed to translating scientific discoveries into better care for individuals and families affected by Bloom syndrome.

Vikash is a Research Scientist at MIT. He completed his postdoctoral training at MIT with Bob Langer and Phil Sharp, following his PhD studies at Harvard with Rakesh Jain and undergraduate studies at Johns Hopkins. His research leverages protein design and delivery vector engineering to create new gene editing technologies. He applies these tools to develop gene therapies for cancer and genetic disorders. Vikash has been awarded funding from the Life Sciences Research Foundation, NIH, DARPA, Harvard-MIT Bridge Project, and MIT Marble Center to support his work

Dr. Czechowicz an Assistant Professor of Pediatrics at Stanford University and a physician-scientist in hematology, oncology, and stem cell transplantation. Her research focuses on hematopoietic stem cell biology, gene therapy and gene editing, and the development of safer, more effective conditioning strategies for stem cell transplantation. Dr. Czechowicz’s work has pioneered antibody-based approaches to selectively deplete endogenous stem cells, enabling improved donor engraftment without traditional genotoxic conditioning. She leads translational efforts advancing cell and gene therapies for disorders such as Fanconi anemia and other bone marrow failure syndromes, bridging fundamental stem cell biology with clinical application.

Andrew Deans heads the Genome Stability Unit and serves as Associate Director at St Vincent's Institute of Medical Research in Melbourne Australia. He trained at the Peter MacCallum Cancer Institute and University of Melbourne, followed by postdoctoral research at Cancer Research UK's London Research Institute. Over nearly two decades, his work has established him as a world expert in the Fanconi anaemia DNA repair pathway and related bone marrow failure disorders, including Bloom syndrome. He has led an international effort to biochemically reconstitute the Fanconi and bloom syndrome pathways to understand how there’s absence causes cancer predisposition.  More recently he has worked closely with patient groups including Maddie Riewoldt's Vision and Fanconi Cancer Foundation to translate laboratory discoveries towards clinical gene editing therapies.

 Dr. Richarda M. de Voer is an Associate Professor of Cancer Genomics at the Radboud University Medical Center in Nijmegen, The Netherlands. She obtained her Bachelor of Applied Sciences from Avans University of Applied Sciences and a Ph.D. in Immunology from the University of Utrecht, The Netherlands. Her research focuses on the genetic predispositions and mutational processes underlying early-onset cancer and multiple primary tumours. Dr. de Voer’s work aims to identify novel genetic variants and understand cancer development mechanisms through state-of-the-art omics analyses and genomic studies. By examining the somatic mutational landscape of tumour DNA, she seeks to differentiate between hereditary cancer and other mutagenic processes. Her goal is to translate these findings into clinical practice to enhance patient care, improve treatment outcomes, and provide personalized cancer surveillance and genetic counselling.

Dr. Sharyl Fyffe-Maricich, received a BS degree from Queen’s University in Canada, and a PhD in Human and Molecular Genetics from Baylor College of Medicine. Following her postdoctoral training at Case Western where she worked to develop therapies for Multiple Sclerosis, Sharyl joined the University of Pittsburgh School of Medicine faculty as a tenure track Assistant Professor of Pediatric Neurology.  Sharyl is currently Vice President of Molecular and Cell Sciences at Ultragenyx, leading teams of scientists focused on the preclinical development of ASO and AAV9 gene therapy programs for several neurogenetic disorders. Sharyl is also currently serving as a scientific advisory board member for the PCH19 Epilepsy Alliance and the International FoxP1 Foundation.

Dr. Greenberg is a Professor of Cancer Biology at the University of Pennsylvania and a leader in the study of DNA damage response and genome integrity. His research focuses on the molecular mechanisms of DNA repair - particularly homologous recombination and the roles of BRCA1 and BRCA2 - and how defects in these pathways drive cancer development and influence therapeutic response. Dr. Greenberg’s work has helped define key aspects of the BRCA-centered tumor suppressor network and has contributed to new strategies for targeting DNA repair vulnerabilities in cancer. His laboratory integrates biochemistry, cell biology, and genetically engineered models to uncover mechanisms linking genome instability, cancer, and immune signaling.

Dr. Ikawa is Professor and Chair of the Department of Pediatrics at Kanazawa Medical University, where he investigates pediatric hematologic malignancies and DNA damage-associated cancer predisposition. His research centers on lentiviral vector-based gene therapy, including cellular models of vector integration and insertional mutagenesis. More recently, his laboratory has focused on preventing the cancer predisposition associated with Bloom syndrome, using the Blmᵐ³ᐟᵐ³ mouse model to establish efficient gene transfer into bone marrow cells and to characterize thymocyte T-cell differentiation before and after irradiation, providing mechanistic insight into genome instability and cancer risk.

Dr. Caroline Kuo is an Associate Professor of Pediatrics in the Division of Allergy, Immunology, and Rheumatology at UCLA. She specializes in the diagnosis and management of patients with inborn errors of immunity and has a particular interest in emerging gene therapy and gene-editing treatments for primary immunodeficiency disorders. She serves as an investigator on multiple clinical trials evaluating novel genetic therapies for rare immune diseases.

Dr. Lansdorp is a Distinguished Scientist at the BC Cancer Agency and a Professor of Medical Genetics at the University of British Columbia. He is well known for his studies of blood-forming stem cells, telomere biology and genome analysis. In 2005 he founded Repeat Diagnostics Inc., a Vancouver company that provides diagnostic telomere length measurements to clinicians looking after patients suspected of a telomere biology disorder. In 2012 his laboratory developed Strand-seq (PMID: 41882415), a single cell technique with widespread applications in studies of genomic instability, genome diversity and medical genetics

Dr. Pommier is a leader in DNA topoisomerase biology and biochemistry, and their cancer relevance. He revealed the interfacial inhibition paradigm based on molecular mechanisms of topoisomerase inhibitors, and championed its broad relevance for molecular pharmacology and drug discovery. He discovered the indenoisoquinolines as novel Top1 inhibitors, which were in clinical development, and the mitochondrial topoisomerase gene, TOP1mt. To understand the determinants of response to topoisomerase inhibitors, he studied the repair pathway centered on tyrosyl-DNA-phosphodiesterases (TDP1 and TDP2) and poly(ADP-ribose) polymerases (PARP).

As Chief, Dr. Pommier oversaw the Branch’s clinical/translational research program, which emphasized new approaches to cancer treatments targeting DNA, epigenetic and chromatin, and connected biomarkers.

Todd is a retired archaeologist, museum curator, anthropology instructor, and Utah State Parks manager with more than 30 years of experience in archaeology, education, and public outreach. A lifelong student of Eastern philosophy and meditation, he has practiced with numerous teachers for three decades and continues to teach meditation. Todd is also an experienced paranormal investigator, having served as team leader of Southern Utah Paranormal, and currently teaches Science, Folklore and the Paranormal at Utah Tech University. In addition, he is an accomplished gourd artist who exhibits his work at festivals while continuing to advocate for public archaeology and lifelong learning.

Eugen Sarbu is a father of three children, two of whom were diagnosed with Bloom syndrome within the past year. He serves on the board of the Bloom Syndrome Association. Professionally, Eugen has a background in computer science, with a focus on finance and machine learning, and currently leads a technology team at the financial company Citadel Securities.

Dr. Schmidt is a Professor of Molecular Biosciences at the University of South Florida whose research focuses on the mechanisms that preserve genome integrity. Her work centers on DNA replication, recombination, and repair, with particular emphasis on the Bloom syndrome helicase (BLM) and its role in preventing chromosomal instability and cancer. Dr. Schmidt’s laboratory uses a combination of human cell systems and model organisms, including Saccharomyces cerevisiae, to dissect how defects in DNA maintenance pathways lead to genome instability and disease. Her research aims to elucidate the molecular functions and interactions of BLM and related pathways, advancing understanding of Bloom syndrome and broader mechanisms of cancer susceptibility.

Prof Semple is Professor of Translational Molecular Medicine at the University of Edinburgh, UK.  He is a practicing endocrinologist whose clinical and research interests centre on rare genetic disease, including monogenic forms of insulin resistant diabetes, and lipodystrophy. These include several disorders of DNA replication and repair.  He combines human clinical and genetic studies with disease modelling in animals, cells (including iPSCs) and in vitro. He is keenly interested in the mechanisms linking human insulin resistance to disease, in mechanisms determining metabolic resilience with age, and in translating research findings into clinical benefits for patients.

S. Martin Shreeve is a Medical Oncologist who has been a consultant to the Bloom Syndrome Association since November 2025.  He was a Clinical Leader in drug development at Johnson and Johnson Innovative Medicine and Pfizer where he designed and led early and late phase clinical trials in lung, prostate, ovarian and hematologic cancers.  Martin received a Ph.D. in Pharmacology from Aston University, U.K. and M.D. from the University of Vermont.  He trained in internal medicine at the George Washington University Hospital, D.C. and was Chief Clinical Fellow in Medical Oncology at the National Cancer Institute, National Institutes of Health

Dr. Takagi is Professor and Chairman of Pediatrics and Developmental Biology at the Institute of Science Tokyo. He graduated from Juntendo University School of Medicine and completed his postdoctoral research at St. Jude Children's Research Hospital (Memphis, TN), where he studied the TP53 and ATM pathways. His research is deeply rooted in clinical practice in pediatric hematology-oncology. His primary scientific interest lies in the DNA damage response, with a particular focus on its relevance to pediatric hematologic malignancies and inborn errors of immunity. He has also made significant contributions to elucidating the genetic background of childhood cancers.
Drawing on this background, he serves as a national clinical hub for Ataxia-Telangiectasia in Japan, providing specialized patient care while actively contributing to both clinical and research collaborations internationally.

Dr. Wei Zheng earned a medical degree from Zhejiang University School of Medicine in China and a Ph.D. in Pharmacology from the State University of New York at Buffalo. He spent twelve years in the pharmaceutical industry at Berlex Biosciences, Amgen, and Merck, focusing on early drug discovery. Since 2005, he has conducted translational research at the National Institutes of Health. As a Group Leader at the National Center for Advancing Translational Sciences (NCATS), he develops therapeutics for rare and neglected diseases using patient-derived iPSC models, drug repurposing screen, and AI-based screening. He has co-authored over 350 publications.