Updated: July 18, 2023
For a detailed agenda, click here.
September 29
BASIC SCIENCE SESSION: GENETIC CAUSES OF COMPLEX LYMPHATIC ANOMALIES
Genetic of CLAs
Miikka Vikkula, MD, PhD, Professor of Human Genetics and Co-Director de Duve Institute, Université catholique de Louvain, Brussels, Belgium
Expanded Genetic Causes in CLAs using Ultra-Deep Sequencing and Unconventional Samples
Dong Li, PhD, Assistant Professor of Pediatrics
University of Pennsylvania, Center for Applied Genomics and Children's Hospital of Philadelphia, Pennsylvania, USA
Detection of PIK3CA Mutations in Aspirated Cyst Fluid is Comparable to Surgically Resected Tissues: Minimally Invasive Diagnostics for Lymphatic Malformations James Bennett, MD, PhD, Associate Professor
Department of Pediatrics, Division Genetic Medicine, University of Washington and Vascular Anomalies Program, Seattle Children's Hospital and Center for Development Biology and Regenerative Medicine, Seattle Children's Research Institute, Washington, USA
Targeting Proteostasis Defects Downstream of PI3K/mTOR Hyperactivation in Lymphatic Anomalies
Carrie Shawber, PhD, Associate Professor of Reproductive Sciences
Departments of OBGYN and Surgery, Columbia University Irving Medical Center, New York, USA
Matching Genetic Variant with Appropriate Medical Therapy – Proposed VATCH Clinical Trial
Alex Borst, MD, Assistant Professor of Pediatrics, Penn Medicine and the Hemostasis and Thrombosis Center at Children's Hospital of Philadelphia, Pennsylvania, USA
September 30
CLINICAL SESSION: PATIENT CENTERED RESEARCH AND REGISTRIES
Visualizing the Lymphatic Vessels and Flow with High-Resolution Ultrasound and Microvascular Flow Imaging*
Willemijn M. Klein, MD, PhD
Department of Medical Imaging Radiology, Radboud University Medical Center Nijmegen, NL
KLA: Update from the BCH Registry
Whitney Eng (Seattle Children's Hospital, USA)
Complex Lymphatic Anomalies: Report on a Patient Registry Using the Latest Diagnostic Guidelines
Jochen Rössler
University Hospital Bern, Pediatric Hematology and Oncology, Switzerland
BASIC SCIENCE SESSION: PRECLINICAL MODELS OF CLAs
Zebrafish Models of CCLA Due to Ras GTPases
Sarah Sheppard, MD, PhD, MSTR, Clinical Investigator
Eunice Kennedy Shriver National Institute of Child Health and Human Development, Maryland USA
Role of NRAS Q61R in the Pathogenesis of Kaposiform Lymphangiomatosis
Tim D. Le Cras, PhD
Professor of Pediatrics, Associate Dean for Graduate Education
University of Cincinnati & Cincinnati Children’s Hospital
Cellular Mechanisms Underlying PIK3CA-driven Lymphatic Anomalies
Hans Schoofs Uppsala University, Sweden
The Role of Hyperactive KRAS Signaling in Complex Lymphatic Anomalies
Mike Dellinger
UT Southwestern Medical Center, Texas, USA
2022 Young Investigator Awardees
Analysis of a New Therapeutic Approach to Inhibit Osteolysis in Gorham-Stout Disease
Michela Rossi, PhD
Bone Physiopathology Research Unit, Translational Pediatrics and Clinical Genetics Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy Mentor: Andre Del Fattore
Molecular Mechanisms of EPHB4 Pathogenesis – Towards New Treatment Development for Lymphatic Anomalies
Silvia Martin Almedina, PhD
Molecular and Clinical Sciences Institute, St George’s University of London, UK
Mentor: Pia Ostergaard
CLINICAL SESSION: CLINICAL ADVANCES
Treatment of CLAs – overview
Kiersten Ricci (Cincinnati Children’s Hospital Medical Center, USA)
Lymphatic Effusions in Infancy
Ionela Iacobas
Texas Children's Hospital and Baylor College of Medicine, Texas, USA
Spectrum of Gorham-Stout Disease Exploring a Single Center Pediatric Case Series
Sabrina Buonuomo, MD and Ippolita Rana, MD
Rare Disease and Medical Genetics, Bambino Gesù Children’s Hospital, IRCCS Rome, Italy
Experience in the Use of Alpelisib in Patients with Vascular Anomalies
Paloma Triana, MD
Pediatric surgery, Children's Hospital La Paz
BASIC SCIENCE SESSION: NEW TECHNOLOGIES FOR CLA RESEARCH
HAM, A Novel Pleurodesis Agent Inspired by PAM for LAM
Frank McCormack, Professor and Director of Plumonary, Critical Care, and Sleep Medicine University of Cincinnati, Ohio, USA
Engineering Approaches for Understanding Cellular Dynamics in GLA
William Polacheck, Assistant Professor of Biomedical Engineering
University of North Carolina at Chapel Hill, North Carolina, USA
Leveraging Tissue Engineered Lymphatic Malformation Models and Patient Genomics to Study Response to Medical Therapy
Brandon Dixon, Professor
Parker H. Petit Institute for Bioengineering and Bioscience, Georgia Institute of Technology, Georgia, USA)
CLINICAL SESSION: ADVANCES IN IMAGING OF CLAS
Integrative Diagnostic Imaging of Tissue Biopsies for Spatial Deep-phenotyping of Lymphatic Anomalies
Rene Haegerling, Clinical Geneticist and Research Group Leader
Charité – Universitätsmedizin Berlin and Berlin Institute of Health Center for Regenerative Therapies, Berlin, Germany
Interventions in Complex Lymphatic Anomalies: Current and Future Directions
Deb Rabinowitz, MD, Interventional Radiology, Division Chief and Nemours Lymphatics Disease Program, Director
Nemours Children’s Hospital-Delaware, Delaware, USA
Communication, Health Care Delivery, and Burdens of Disease in Complex Lymphatic Anomalies*
Bryan Sisk, MD
Assistant Professor, Pediatric Hematology and Oncology Director of Research, Bioethics Research Center, Co-Director, Vascular Anomalies Center, Washington University School of Medicine
*Drs. Bryan Sisk and Willemijn Klein presentations switched time slots from previous agenda.
