2016 MDBR Funds 2 New Studies
The Lymphangiomatosis & Gorham’s Disease Alliance (LGDA) and the Lymphatic Malformation Institute (LMI) are proud to announce the two projects selected to receive the LGDA-LMI 2016 MDBR Rare Disease Research Grants. The LGDA and LMI joined together Saturday, May 7, 2016, in Philadelphia to participate in the 3nd Annual Million Dollar Bike Ride. Together the teams raised $80,000, which the Orphan Disease Center at University of Pennsylvania matched dollar-for-dollar, bringing the total available for research to $160,000.
We congratulate the 2016 awardees and are making plans to participate in the MDBR in May 2017 in order to continue funding research important to better understanding lymphangiomatosis and Gorham’s disease.
Andrea Del Fattore, PhD, and Andrea Bartuli, MD
Bambino Gesù Children’s Hospital, Rome, Italy
Project: Understanding the molecular and cellular defects of bone remodeling in patients affected by Gorham-Stout disease (GSD)
Gorham-Stout disease (GSD) is a rare bone disorder characterized by progressive osteolysis and angiomatous proliferation, without new bone formation. At the onset of the disease, x-ray analysis may reveal a patchy osteoporosis condition; later complete bone loss may occur, resulting in the appearance of the so-called “vanishing bone” disease. The mechanisms underlying the excessive bone resorption are not entirely known. The diagnosis is challenging and is usually the result of ruling out neoplastic processes, infection, and metabolic and endocrine disorders.
Small structures called Extracellular Vesicles (EV) are increasingly recognized to play a pivotal role in cell-to-cell communication. EV are released by many cells, including osteoblasts and osteoclasts, and recently have been subject to intense investigations into the potential use of circulating EV for the diagnosis of different disease states.
This study seeks to identify alterations of bone remodeling activity in GSD patients and to investigate the involvement of extracellular vesicles in the bone phenotype and their possible use as novel diagnostic and/or prognostic biomarkers.
Dr. Del Fattore is the Head of Bone Physiopathology Laboratory at Bambino Gesù Children’s Hospital in Rome. He obtained his Bachelor’s and Master’s degrees in Biotechnology at “Sapienza” University of Rome developing his thesis on bone diseases. He got his PhD degree in 2009 at University of L’Aquila (Italy). Dr Del Fattore takes part in international scientific committees. He obtained several awards and honors, including the ECTS Iain T Boyle Award, a prestigious award for young scientists who have made significant progress and contribution to the field of bone and calcified tissue. The research activity of Dr Del Fattore is focused on the study of bone diseases.
Dr. Bartuli graduated in Medicine (1984) and specialized in Pediatrics (1985) at the University of Rome, he is a full time pediatrician at the Academy Department of Pediatric of Bambino Gesù Children’s Research-Teaching Hospital of Rome and Head of the Rare Diseases and Genetic Unit. He is President of Società Italiana Malattie Genetiche Pediatriche [and] Disabilità Congenite (SIMGePeD).
Carrie Shawber, PhD.
Columbia University Medical Center, New York, NY
Project: Identification of the Genetic Causes of Generalized Lymphatic Anomalies
Generalized Lymphatic Anomaly (GLA) is a rare multi-focal lymphatic anomaly that is difficult to diagnose and commonly misidentified. GLA complications can involve multiple organs and anatomic areas, with chylothorax, chylous ascites, and lytic bony lesions. However, these morbidities are also found in other lymphatic disorders that have been empirically categorized: Gorham-Stout disease (GSD) and kaposiform lymphangiomatosis (KLA). It is unclear if GLA, GSD, and KLA constitute a spectrum of one disorder, or if they are distinct conditions, as the underlying genetic defects are unknown. The lack of understanding of the genetic underpinnings of these diseases limits development of diagnostics and novel therapeutics.
This translational research project will use lymphatic endothelial cell lines generated from GLA specimens for genetic analysis to relate genotype to phenotype in GLA. These studies have the potential to identify new genes and pathways that function in lymphatic development and homeostasis. The goal of this project is to gain information that will lead to increasingly precise diagnostic information that will aid clinicians in identifying and characterizing GLAs.
Dr. Shawber is Assistant Professor in Reproductive Sciences in Ob/Gyn and Surgery, Columbia University Medical Center, New York, NY. Her laboratory is interested in understanding developmental and pathological lymphatic vascular biology. In collaboration with Dr. June Wu, a plastic surgeon with a research program focused on vascular anomalies of the blood vasculature in the Department of Surgery, they have developed a basic and translational vascular anomalies research program to characterize and identify the causes of vascular anomalies. Dr. Shawber’s translational research program aims to improve our understanding into lymphatic anomalies and identify optimal treatment options.
We need your help to support more research like this. Be part of Team LGDA 2017!