Geert Mortier

Head of the Centre for Human Genetics at UZ Leuven and full professor Human Genetics at KU Leuven, Belgium

Professor Geert Mortier is an internationally recognized pediatrician and clinical geneticist with special interest in Skeletal Dysplasia and the genetic pathways causing these disorders. He is currently Head of the Centre for Human Genetics at UZ Leuven and affiliated as full professor in Human Genetics at the KU Leuven. He is also affiliated professor at the Manipal University in India. 

He has a strong research interest in growth diseases and genetic disorders of the skeleton. He participates in several expert networks for skeletal dysplasias and is member of the scientific medical committee and medical advisory board for several companies and agencies. 

Gen Nishimura

Dr. Gen Nishimura is a globally recognized pediatric radiologist with a distinguished career. For over a decade, he had worked in children’s hospitals in Tokyo and neighboring region.

During his career, his special interest has been the diagnosis of skeletal dysplasias. Because of his “eagle eye”, he has received a number of diagnostic consultations from over the world. He was awarded  “the Maroteaux Award" from from ISDS in 2022 for his clinical and scientific contribution to the field. He was retired from Tokyo Metropolitan Children’s Medical Center several years ago, but he has kept his professional interest in skeletal dysplasias. Presently, he is associated with the Department of Molecular Medicine at the Karolinska Institute and the Department of Pediatrics in Utah University as an adjunct member.

Giedre Grigelioniene

Associated professor Giedre Grigelioniene is specialist in pediatrics and clinical genetics, with expertise in congenital skeletal disorders since 1995 and since 2012 associated to the Center for Rare Diseases, Dept. of Clinical Genetics & Genomics, Karolinska University Hospital, Stockholm. Giedre defended in 2001 her PhD-thesis in pediatric science, “Clinical and Genetic Investigation of Hypochondroplasia and Dyschondrosteosis”. Giedre is the founder of the Nordic Skeletal Dysplasia Workshop.

Melita Irving

Professor Melita Irving is an expert London-based consultant and honorary reader in clinical genetics and has extensive experience in diagnosing and managing a wide range of genetic conditions.  

Her sub-specialism is rare diseases of the skeleton, and Melita has established multidisciplinary pediatric clinics in skeletal dysplasia offering a close monitoring and management service, and is an active researcher, working to develop and improve the diagnosis of severe skeletal conditions. She currently acts as the chief investigator for clinical trials in children with skeletal dysplasia, developing the diagnosis of genetic conditions and improving the accurate diagnosis of severe skeletal conditions. Her work is featured in many peer-reviewed publications, and she has published extensively on various aspects of clinical genetics.

Ravi Savarirayan

Professor Ravi Savarirayan is the Head of the Royal Childrens Hospital Genetics Service at the Murdoch Childrens Research Institute, Australia. He is deeply committed to a patient-centered approach to pioneer new precision therapies for children grappling with rare genetic diseases to transform their health outcomes. 

Professor Savarirayan serves as the Group Leader of Skeletal Biology and Disease at the Murdoch Childrens Research Institute, and his extensive professional portfolio includes positions as Head of Clinical Genetics Services at the Victorian Clinical Genetic Services. Professor Ravi Savarirayans multifaceted roles underscore his significant contributions to the fields of clinical genetics, musculoskeletal research, and rare genetic disease management, cementing his status as an influential figure in the medical community.

Outi Makitie

Professor Outi Makitie’s research group at University of Helsinki and Folkhälsan Research Center focuses on genetic determinants of osteoporosis and other rare bone diseases. Since 2015, Mäkitie is Sigrid Jusélius Professor of Pediatric Endocrinology, Chief physician at the Childrens Hospital, University of Helsinki and Senior researcher at Karolinska Institute.

Professor Makitie has over the years carried out several studies on genetic defects and clinical factors underlying skeletal disorders, with main interests being early-onset primary and secondary osteoporosis, skeletal dysplasia, and vitamin D. Her research has aimed to increase understanding of disease mechanisms in bone diseases that involve children. By obtaining more data regarding the causative factors, predisposing genetic variants, natural course of the disorders and treatment responses she aims at improving means for prevention and early diagnosis, and provide optimal and timely management in childhood-onset skeletal disorders.

Guillaume Canaud

Professor Canaud is a MD, PhD and the Chief of the Overgrowth syndromes and vascular anomalies Unit at Necker Enfants Malades Hospital in Paris. Professor Canaud went to medical school in Montpellier and moved to Paris in 2002 to perform his Residency in Nephrology (2002 to 2007). Professor Canaud has a compassionated dedication to finding targeted therapies for patients with PIK3CA-related overgrowth spectrum disorders and thereby improving the lives of individuals affected by these complex conditions.