The following members of ICVAS are working in collaboration to better understand the cause of scoliosis:
Benjamin Alman, M.D.
Dr. Alman is a professor of surgery, a member of two graduate school faculties, and a member of two collaborative programs at the University of Toronto. He is a senior scientist in the Research Institute of The Hospital for Sick Children with an appointment in the program in Developmental and Stem Cell Biology. He is also the Vice Chair of Research within the Department of Surgery at the University. He runs an active basic science research program, studying the role of developmental signaling pathways in the musculoskeletal system.
Olivier Pourquié Ph.D.
Dr. Pourquié is an investigator at the Stowers Institute for Medical Research and Howard Hughes Medical Institute. The goal of his research is to gain a better understanding of the formation of the spine during embryonic development. His laboratory identified a molecular oscillator, termed the “segmentation clock”, which ticks in vertebral precursors. Mutations in genes involved in this process in humans lead to vertebral anomalies such as congenital scoliosis. His ongoing research focuses on the elucidation of the molecular mechanisms underlying the formation of the spine in model species such as mouse, to try to understand the basis of human vertebral segmentation defects.
Philip Giampietro, M.D., Ph.D.
Dr. Giampietro has research interests in understanding the genetic contributions involved with sporadic vertebral malformations and human vertebral malformation syndromes.
Alberto Santiago-Cornier, M.D., Ph.D.
Dr. Santiago-Cornier is the Associate Dean for Research and an Associate Professor of Genetics at The San Juan Bautista School of Medicine in Puerto Rico.
Valérie Cormier-Daire, M.D.
Dr. Cormier-Daire is a clinical geneticist at Necker Children’s Hospital.
Sally Dunwoodie, Ph.D
Dr. Dunwoodie is an Associate Professor in the Faculties of Science and Medicine at the University of New South Wales in Australia. Her laboratory in the Developmental Biology Program at the Victor Chang Cardiac Research Institute focuses on understanding the genetic basis of birth defects. Her laboratory identified the DLL3 gene, a component of the Notch signalling pathway, which is required for normal vertebral column formation. Her ongoing research aims to identify additional gene changes that cause vertebral malformations, and to define how Notch signalling is modified during embryonic development.
Kenro Kusumi, Ph.D.
Dr. Kusumi is an Associate Professor at Arizona State University and University of Arizona College of Medicine Phoenix, and he is an adjunct faculty member at the Translational Genomics Research Institute in Phoenix.
Dr. Kusumi has identified and is studying novel molecular oscillators that regulate somitogenesis and early spinal development. His lab uses genetic, functional genomic, and developmental approaches to characterize these molecular oscillators, using mouse and cell culture models. In addition, Dr. Kusumi directs a clinical genetics study based in Arizona that focuses on finding the causes of congenital scoliosis and other segmental disorders of the spine.
Amaka Offiah, Ph.D.
Dr. Offiah has an interest in the musculoskeletal system, particularly constitutional disorders of bone and non accidental injury. She has been involved with developing and validating a new system for the radiological classification of spinal disorders that can be used in humans as well as animal models. She is currently researching the use of dual energy x-ray absorptiometry to determine morphometry (size and shape) of vertebral bodies through her work at Great Ormond Street and University College London (Institute of Child Health).
Peter Turnpenny, M.D.
Peter Turnpenny is a graduate of Edinburgh University Medical School and has been a Clinical Geneticist in Exeter, UK, since 1993. He worked as senior paediatrician at The Nazareth Hospital, Israel, 1983-90, during which time his career interest in clinical genetics began as a result of caring for children with various birth defects. Among these cases were several individuals, from one large family, with a severe spinal deformity called spondylocostal dysostosis (SCD). This family eventually led to the identification of the DLL3 gene as a cause of SCD in 1999, followed by the MESP2 gene in another affected family. Peter has published extensively in the field of abnormal vertebral segmentation in man and chaired ICVAS’s classification group. He is author of two books, including the recent two editions of ‘Emery’s Elements of Medical Genetics’, and approximately 60 peer-reviewed publications. His other major clinical interests include fetal anticonvulsant syndromes, hypermobility (Ehlers-Danlos type III) syndrome, and ethical issues in relation to modern advances in human genetics.