A look at the 2019 MDC1A Conference

Dr. Foley was first involved in pediatric neuromuscular trials while completing a year of postgraduate fellowship in pediatric neuromuscular disease at the Children’s Hospital of Philadelphia. From 2010 to 2013, Dr. Foley was a Clinical Research Fellow at UCL Institute of Child Health and Great Ormond Street Hospital for Children in London. In 2014, she became an Investigator at the Neuromuscular and Neurogenic Disorders of Childhood Section of the National Institutes of Health.

Dr. Foley’s research focuses on congenital muscular dystrophies and, in particular, on coordinating an international collaboration to study the natural history of collagen VI-related myopathies. The main goal of her research is to promote progress towards clinical trials.

Dr. Hemant Sawnani is trained in Pediatric Pulmonology and Pediatric Sleep Medicine. He is currently an Associate Professor at the Division of Pulmonary Medicine at Cincinnati Children’s Hospital Medical Center, USA.

Dr. Sawnani’s academic interest has focus on pediatric neuromuscular diseases and their impacts on sleep and breathing and chest wall architecture. He collaborates extensively within the field of congenital muscular dystrophies.

Dr. Anna Sarkozy studied medicine at La Sapienza University in Rome, Italy, where she also completed her higher medical training and PhD in clinical genetics. From 2008 until 2014 she worked in the Newcastle Muscle Centre, NSCT Service for rare Neuromuscular Disorders as a specialty doctor in Neuromuscular Genetics. In 2014, Dr. Sarkozy joined the Dubowitz Neuromuscular Centre where she currently works as a Consultant in Neuromuscular Diseases. She also is an Honorary Senior Lecturer at University College, London.

Dr. Sarkozy’s research interests lie in the identification of genes, clinical characterisation of rare neuromuscular phenotypes, the natural history of the diseases as well as genotype/phenotype correlations, in particular for congenital myopathies and muscular dystrophies.

Prof. Dr. Madeleine Durbeej leads the Muscle Biology unit at Lund University, Sweden, which researches laminin ɑ2 chain-deficient congenital muscular dystrophy. Over the years, they have been able to identify the affected genes and proteins of the disease using various approaches. Based on this information, the unit has explored different genetic and pharmacological interventions to improve the well-being of the patients.

After completing a Bachelor in Life Sciences at the Hogeschool van Arnhem and Nijmegen in the Netherlands, Dr. Kemaladewi received her PhD in October 2012 from Leiden University, the Netherlands. From 2012 until 2018 she was a Research Associate at the Hospital for Sick Children in Toronto, Canada led by Prof. Dr. Ronald Cohn. Currently she is an Assistant Professor in the Department of Pediatrics (Div. of Medical Genetics) at the University of Pittsburgh, USA.

Dr. Dwi Kemaladewi has an extensive training in human genetics and the development of genetic therapy, with a focus on neuromuscular disorders. Her research focuses on the underlying molecular mechanisms involved in the pathophysiology of muscular dystrophies, using cutting-edge genetic technologies to study and develop therapeutic interventions for rare pediatric diseases.

Prof. Dr. G. Cossu received his MD degree from the University of Rome in 1997. He trained as a Fogarty post-doctoral at University of Pennsylvania, and then became Associate Professor at the University of Rome. In 2000 he became Director of the Division of Regenerative Medicine at San Raffaele in Milan. In 2012 he moved as Professor of Human Stem Cell Biology to University College London and in 2013 to the University of Manchester.

Giulio Cossu has a long lasting interest in the field of muscle cell and developmental biology. He discovered the myogenic potential of a bone-marrow derived, circulating progenitor cell. He also identified a novel population of vessel associated stem cell, the mesoangioblasts that proved effective in the treatment of a mouse and dog models of muscular dystrophy. He conducted a first in man clinical trial of cell therapy for DMD and is starting a second trial with genetically corrected autologous cells.