2026 ASXL Research Symposium

Laura Badmaev is the Founder and Chair of the ASXL Rare Research Endowment Foundation and mother of Alex, who has Bohring-Opitz Syndrome (ASXL1). She is passionate about supporting evidence-based research and improving management of care for ASXL families. Laura grew up in the New York metropolitan area and relocated to southern Maine, where she lives with her husband Michael and their children Alexander, Abigail, and Natalia. She holds a BS in Operations Research & Industrial Engineering from Cornell University, a Masters in Systems Engineering and Graduate Certificate in Engineering Management from Stevens Institute of Technology, and a Certificate in Leadership Excellence from Harvard. She is certified in Scaled Agile Framework and Six Sigma. Laura worked for the Department of Defense as an Integrated Logistics Support Manager and R&D Systems Engineering Advisor before joining American Express, where she has served in various consultative and capability development roles for over a decade. American Express recognized Laura with the 2018 Top 10 Global Parent of the Year Award, the 2019 Mother of the Year for Working Mother Media’s 100 Best Companies, and the 2021 Chairman’s Award.

Dr. Bianca Russell is a clinical geneticist at University of California, Los Angeles (UCLA) who sees patients with metabolic and genetic conditions. She has been following patients with ASXL-related disorders since 2013 and has made this the research focus of her career. She started the ASXL Registry as a resident at Cincinnati Children’s and expanded it to include a biobank when she transitioned to UCLA. Dr. Russell received her bachelor’s degree from Connecticut College in 2008 and her medical degree from the University of California, Irvine in 2013. She completed her residency in Pediatrics and Human Genetics at Cincinnati Children’s Hospital.

Dr. Stephanie Bielas is the Morton S. and Henrietta K. Sellner Professor in Human Genetics and Associate Professor of Human Genetics and Pediatrics at the University of Michigan Medical School. Research in her lab focuses on discovering the genetic basis of human neurodevelopmental disorders. The Bielas lab performs functional follow-up using mammalian models of neural development, including primarily mouse models and human forebrain organoids, and has revealed novel features of human brain development and pathogenic mechanisms that are critical for developing therapeutic interventions. Dr. Bielas serves as a scientific advisor to Leo’s Lighthouse Foundation and ASXL Rare Research Endowment Foundation, and serves as a principal investigator building clinical and research infrastructure to improve access to pediatric genetic diagnostic testing in India.

Bio coming soon.

Beat Fierz studied molecular biology and biophysical chemistry at the Biozentrum of the University of Basel. After the diploma in 2002, he joined the laboratory of Thomas Kiefhaber at the Biozentrum for a PhD in protein folding and dynamics, using nanosecond laser photolysis to observe initial steps in protein folding and secondary structure formation. After obtaining his PhD in 2006, he moved to Rockefeller University for postdoctoral research in the laboratory of Tom W. Muir, where he developed methods to synthesize chromatin containing defined ubiquitin modifications. In 2012, he was appointed tenure-track assistant professor for the Sandoz Foundation Chair at the Institute of Chemical Sciences and Engineering (ISIC) of EPFL, where he established a program to detect dynamic processes in chromatin regulation, combining chemical biology and biophysics methods. In 2019, he was promoted to associate professor at EPFL. The current research of Prof. Beat Fierz focuses on the structure, dynamics, and function of chromatin and related multi-protein complexes in vitro and in cells, requiring an interdisciplinary approach at the interface of chemistry, biology, and biophysics.

Emma obtained her undergraduate degree at the Smurfit Institute of Genetics, Trinity College Dublin in 2022. During this time she conducted research on rare childhood malignancies, including diffuse midline gliomas, under the supervision of Prof. Adrian Bracken. She started her PhD in the Conway Chromatin Lab in University College Dublin in 2022 where her research is focused on Polycomb-related chromatinopathies, in particular, Bohring Opitz Syndrome. Her aim is to uncover the mechanisms of epigenetic dysregulation caused by truncating variants in the ASXL1 gene which could in turn lead to an improved understanding of the role of H2AK119ub1 and PR-DUB in BOS, and importantly, may shape the search for targeted treatments for patients. In addition to BOS, while in the Conway Lab, she has also worked on Weaver Syndrome, a rare congenital overgrowth syndrome.

Tatiana Kutateladze is a Professor in the Department of Pharmacology at the University of Colorado School of Medicine. Her research interests include studying epigenetic and chromatin remodeling signaling, posttranslational histone modifications and the role of epigenetic misregulations in human diseases. Among their major achievements, the Kutateladze lab is credited with determining molecular bases underlying methyllysine and acyllysine recognition by a large number of epigenetic readers.

Dr. Morey is a Tenured Associate Professor at the Human Genetics Department at University of Miami and member of the Cancer Epigenetics Program at Sylvester Comprehensive Cancer Center. He received his degree in Biology from Universidad de Barcelona (Spain) in 2003. He completed his PhD studies in the laboratory of Dr. Luciano Di Croce at the Center for Genomic Regulation (Barcelona, Spain), where he studied the role of the chromatin-remodeling complexes in leukemia. He then joined Dr. Kristian Helin’s laboratory in Copenhagen (Denmark) where he studied the role of epigenetic factors in early development, and in 2010 he joined Dr. Luciano Di Croce as staff scientist where he investigated the role of Polycomb complexes in ESCs. In 2016, he started his independent career as an Assistant Professor at UM and SCCC. Dr. Morey has been the recipient of multiple grants from AACR, V Foundation, METAvivor NIH-NIGMS and NIH-NCI, among others. The lab’s focus is mainly on how chromatin modifying enzymes regulate oncogenic and developmental programs, and how perturbations of epigenetic pathways can be exploited for therapeutic interventions.

Dr. Chao Lu received his PhD from the University of Pennsylvania, where he completed his thesis research in the laboratory of Dr. Craig Thompson. He then joined the laboratory of Dr. C. David Allis at the Rockefeller University for postdoctoral training. Dr. Lu joined the Columbia University faculty in 2018, where he is an Associate Professor in the Department of Genetics and Development and the Herbert Irving Comprehensive Cancer Center. Dr. Lu’s laboratory employs high-throughput genetic and epigenomic technologies to understand the mechanisms by which chromatin is stably compartmentalized and dynamically regulated. The goal is to apply insights from mechanistic studies to target human diseases driven by chromatin abnormality, such as cancer and neurodevelopmental disorders.

Dr. Stephanie Bielas is the Morton S. and Henrietta K. Sellner Professor in Human Genetics and Associate Professor of Human Genetics and Pediatrics at the University of Michigan Medical School. Research in her lab focuses on discovering the genetic basis of human neurodevelopmental disorders. The Bielas lab performs functional follow-up using mammalian models of neural development, including primarily mouse models and human forebrain organoids, and has revealed novel features of human brain development and pathogenic mechanisms that are critical for developing therapeutic interventions. Dr. Bielas serves as a scientific advisor to Leo’s Lighthouse Foundation and ASXL Rare Research Endowment Foundation, and serves as a principal investigator building clinical and research infrastructure to improve access to pediatric genetic diagnostic testing in India.

Sally Camper is the Margery W. Shaw Distinguished University Professor of Human Genetics. She joined the University of Michigan faculty in 1988 and has since contributed to the Medical School in a variety of roles, including founding Director of the U-M Transgenic Animal Model Core, Associate Director of the combined graduate Program in Biomedical Sciences, and Chair of the Dept of Human Genetics. Her research interests include the genetic basis for neuroendocrine birth defects, mouse models of hypopituitarism, pituitary stem cells, and molecular diagnosis of congenital hypopituitarism. Camper received her PhD in biochemistry from Michigan State University and completed her postdoctoral fellowship at the Institute for Cancer Research in Philadelphia and Princeton University before joining the U-M.

The goal of Dr. Iwase’s research group is to elucidate chromatin regulatory mechanisms engaged in development and function of the brain. Chromatin deregulation has emerged as a major cause of neurodevelopmental disorders such as intellectual disabilities, autism spectrum disorders, and schizophrenia. Post-translational modifications of histones have been recognized as a “language” describing a variety of nuclear events. Numerous mutations associated with neurodevelopmental disorders fall into such histone modification regulators. Accurate interpretation of the histone modification network, therefore, appears to be essential for proper brain development and function. However, little is known about what chromatin regulators do in the brain and how these mutations lead to neurodevelopmental disorders. Dr. Iwase’s group aims to reveal molecular underpinnings of histone regulation in the brain, thereby deepening understanding of the roles of chromatin in normal and pathological brains.

Fides Zenk is a scientist working to understand how the human brain develops and what happens when this process goes wrong. Her research focuses on epigenetics — the layer of biological information that controls how our genes are switched on and off without changing the DNA sequence itself. These epigenetic instructions are especially important during early development, when cells must decide what type of cell they will become. Her laboratory studies how epigenetic mechanisms guide the formation of the nervous system and how disruptions in these processes can contribute to neurodevelopmental disorders and brain diseases. To do this, she combines stem cell models, including human brain organoids grown in the laboratory, with advanced genomic technologies that allow her team to examine gene regulation at very high resolution, even in individual cells. By mapping how healthy brain cells establish and maintain their identity, her work aims to uncover why certain cells lose their proper developmental path. The long-term goal is to improve understanding of the biological causes of neurological conditions and to contribute to better diagnostic and therapeutic strategies.

Dr. Val Arboleda is a physician-scientist trained in human genetics, genomics, and clinical pathology. The overarching research goals in her lab are to integrate large-scale data sets to improve our biological understanding and clinical treatment of human disease. In no other time in human history do we have such rich biological and clinical data, the bioinformatics tools to explore these relationships on a large scale, and the molecular genetic tools to rapidly experimentally validate findings in model systems.

Whilst studying Molecular Biology at the University of Edinburgh, Rob became fascinated by chemical modifications that could alter the functionality of DNA — a field known as epigenetics. This led him to pursue a PhD with Sir Adrian Bird, developing novel biochemical tools to isolate DNA based on its methylation status. The timely advent of next-generation sequencing enabled the production of some of the first genome-wide DNA methylomes from human and mouse cells. He then leveraged genomics and bioinformatics expertise in the lab of Prof. Wendy Bickmore at the MRC Human Genetics Unit, focusing on the structural and catalytic functions of polycomb repressive complex 1 (PRC1) during early mammalian development. In 2018, Rob established his lab in the Centre for Regenerative Medicine (CRM) and the Simons’ Initiative for the Developing Brain (SIDB) in Edinburgh. The Illingworth lab investigates how chromatin-based mechanisms control gene expression programmes to balance cellular expansion and specification, and how derailing these processes leads to pathology.