Working Groups Leaders
WG1 Leader Diagnostic Challenge
Since 2005: Professeur des Universités-Praticien Hospitalier (PU-PH). Professor of Genetics, University Paris Descartes.
Praticien Hospitalier (MD), Department of Medical Genetics, Necker Hospital. In charge of the French reference center for constitutional bone disorders involved in the diagnosis, management and long term follow up of patients with osteochondrodysplasia.
Head of the French network “OSCAR”, created in June 2014, gathering three reference centers (constitutional bone disorders, phosphocalcic metabolism and fibrous dysplasia). Head of the Genetic Clinic Unit in Necker Hospital (since 01/2/2017).
Since 1998, head of a research team in INSERM Unit UMR1163 (Imagine Institute) entitled “Molecular and physiopathological basis of osteochondrodysplasia”.
- Member of the scientific council of the International Skeletal Dysplasia Society (ISDS)
- Member of the European Skeletal Dysplasia Network (ESDN)
- Member of the American Society of Human Genetics
- Member of the European Society of Human Genetics
WG1 Co-Leader Diagnostic Challenge
Lead Consultant Geneticist, Highly Specialised Severe, Complex and Atypical OI Service,Sheffield Children’s NHS Foundation Trust, as part of this role she has been instrumental in establishing the bone genetics service in Sheffield (UK) and streamlining diagnostic pathways in children with rare bone phenotypes, leading to improved diagnosis and better patient outcomes in this disease group.
In the last few years she has conducted research looking at deep phenotyping in OI patients with studies focused on skin biopsies, fracture risk prediction models and genomic studies in cohort of OI patients with unknown causality.
She is currently focused on studies looking at phenotypic variability in OI/ rare skeletal dysplasia’s; establishing diagnostic pathways for unclassified variants (UVs) identified on genetic analysis.
Musculoskeletal Genomic Clinical Interpretation Partnership Bone Fragility and Metabolic bone disease sub-domain lead for 100,000 Genomes project, a Department of Health, UK initiative to undertake genome sequencing for patients with rare diseases, she works closely with Brittle Bone Society and adult metabolic bone services in Sheffield.
Michael James Wright
WG2 Leader Research
Dr Michael Wright is a consultant in Clinical Genetics Northern Genetics Service, Newcastle upon Tyne Hospital NHS FT (Fully NHS Funded) (2000-Date). He is Associate Medical Director Newcastle Hospitals NHS FT (2009-Present), associate Clinical Lecturer Newcastle University (2000-Date). NHS funded consultant clinical geneticist since 2000. He provides genetic services, as part of a team of consultants and genetic counsellors, to a population of just over 3 million people in the North East of England.
Between 2004 and 2009 he was the Clinical Director of Northern Genetic Service. During this time he served on the United Kingdom Genetic Testing Network (UKGTN) service development committee and the Genetics Commissioning Advisory Group (GENCAG). Since 2009 he has been an Associate Medical Director of Newcastle HospitaIs.
He is a member of the medical advisory board of the Little People of America and President of the Restricted Growth Association.
He was one of the clinicians who led the introduction of microarray comparative genome hybridisation as the first line chromosome analysis to Northern Genetics Service. Founding Director of NewGene Ltd.
Co-applicant on the successful application to NIHR for funding of the Newcastle Diagnostic Evidence Co-operative (DEC) attracting a grant of c.£800k over four years.
Co-applicant on a c.6M Euro application to the Horizon 2020 scheme with Professor Mike Briggs to investigate the repurposing of carbamazepine for the treatment of Schmid Metaphyseal Dysplasia.
WG2 Co-Leader Research
Geert Mortier is currently director of the Department Medical Genetics and head of the Center for Rare Diseases in the Antwerp University Hospital. He is also chairman of GENOMED, a research center of excellence at the University of Antwerp. He is full professor at the University of Antwerp and affiliated professor at the Manipal University in India. He is a Belgian-certified pediatrician and clinical geneticist.
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. (Researcher ID:D-2542-2012; ORCID ID: 0000-0001-9871-4578)
Good Practice & Guidelines
WG3 Leader Good Practice & Guidelines
Lars Sävendahl is professor of Pediatric Endocrinology at Karolinska Institutet, Stockholm, Sweden. He is a senior consultant in pediatric endocrinology at Astrid Lindgren Children’s Hospital and the Academic Chief of the Children´s and Women´s Health theme at the Karolinska University Hospital in Stockholm. He is also supervisor of clinical studies related to growth. He is the supervisor of several postgraduate research students and post-doctoral fellows working in his research group.
Professor Sävendahl is active in national and international societies, served the European Society for Paediatric Endocrinology (ESPE) for many years and was the ESPE Secretary General between 2011 and 2015. He has long-time experience from leading working groups of international collaborative projects including those funded by the European Commission.
WG3 Co-Leader Good Practice & Guidelines
Eva Åström is senior consultant at the Neuropediatrics at Astrid Lindgren Children’s hospital at Karolinska University hospital and has a PhD at Karolinska Institutet in Stockholm, Sweden. She has been assessing and treating children with Osteogenesis Impercfecta (OI) since 1991. She started the first intravenous Pamidronate treatment in OI 1991 and reported the first case of intravenous Pamidronate treatment at the 5th International Conference on Osteogenesis Imperfecta in Oxford 1993. She is the leader of a Swedish national wide pediatric multi-professional team for assessment and treatment of children and adolescents with OI and is main Principle Investigator for Boost Brittle Bones Before Birth (BOOSTB4), an international multicentre trial lead by Cecilia Götherström, to evaluate the clinical effect of mesenchymal stem cell transplantation for the treatment of severe osteogenesis imperfecta. She is the chief physician for the children with OI that have been treated with stem cells at Karolinska.
WG4 Leader Clinical Trials
Professor Nick Bishop is an internationally recognised expert in the field of paediatric bone research. His focus is on experimental medicine/early phase studies in osteogenesis imperfecta, steroid-induced or disease-associated osteoporosis and hypophosphatasia.
He has a long-standing interest in early life influences on later skeletal health. He is based at Sheffield Children’s Hospital, a member of the BOND ERN (co-lead, Clinical Trials Working Group). He is Associate Director of the Versus Arthritis Experimental Arthritis Treatment Centre for Children, leading the bone theme, and Vice President for Science and Research at the Royal College of Paediatrics and Child Health (from 6.3.19).
WG4 Co-Leader Clinical Trials
Professor Klaus Mohnike is based at Children’s Hospital, Otto-von-Guericke-University Magdeburg, Germany. He is a pediatric endocrinologist and chair of the Central-German Network for Rare Diseases (`Mitteldeutsche Kompetenznetz für Seltene Erkrankungen, MKSE´).
His main clinical expertise and research activities are related to bone dysplasia and congenital hyperinsulinism. Over the last 20 years he developed inter-institutional registries for different rare diseases (bone dysplasia, congenital hyperinsulinism, congenital adrenal hyperplasia) to establish tools for quality assurance in medicine.
His focus is based on close collaboration with ePAG (Co-Chair of BKMF e.V.; Scientific Advisor for Congenital Hyperinsulinism International). He published 85 original papers and several book chapters.
Database: Natural History of Diseases
Muhammad Kassim Javaid
WG5 Leader Database: Natural History of Diseases
Dr Kassim Javaid is an Associate Professor in Metabolic Bone Disease at Nuffield Department of Orthopaedic Surgery, and an Honorary Consultant Rheumatologist at Oxford University Hospitals Trust, UK.
Dr Javaid graduated in medicine from the University of London, in 1996. He completed his PhD from the University of Southampton studying pregnancy and childhood bone growth. During his research career, he has won the multiple awards, including the prestigious Pierre Meunier Young Investigator Award, in 2017, given to young investigators who have demonstrated outstanding scientific merit and are expected to be future thought-leaders in the musculoskeletal field.
His research areas are in epidemiology and adult metabolic bone diseases focusing on vitamin D, osteoporosis, secondary fracture prevention and rare bone diseases. He has received several research grants, from both industry and the National Institute for Health Research, for epidemiological and interventional research. Dr Javaid has published over 130 original articles in peer-review journals, and is part of the international Fibrous dysplasia/ McCune Albright consortium and leads rudystudy.org in the UK
WG5 Co-Leader Database: Natural History of Diseases
Natasha Appelman-Dijkstra is an internist-endocrinologist specialized in osteoporosis, metabolic bone and mineral diseases at the Leiden University Medical Center, LUMC). Since 2016 she is the head of the metabolic bone unit in Leiden and since 2019 she also chairs the Academic training program for Endocrinology at the LUMC. Natasha is the co-founder and secretary of the “NVE-BoNe”, a national working group for calcium and bone disorders of the Dutch society for Endocrinology (NVE), since November 2017 the elected president of the Dutch association for calcium and bone research (NVCB) and is one of the founding members of the international Fibrous Dysplasia Consortium.
Natasha is PI on several investigator initiated and industry sponsored studies in the field of impact micro indentation, rare bone diseases (focus on Fibrous Dysplasia/McCune Albright syndrome and SAPHO syndrome), osteoporosis and parathyroid-disorders.
Interactions with Other ERNs
Maria Luisa Brandi
WG6 Leader Interactions with Other ERNs
Maria Luisa Brandi took the MD Degree in 1977, the Board in Endocrinology in 1980 and the PhD Degree in Cell Biology in 1987. She is Full Professor of Endocrinology and Metabolic Diseases at the University of Florence, Italy. She is directing the Regional Program on Hereditary Endocrine Tumors and the Bone Metabolic Unit at the University of Florence. The Unit is active both in clinical and in basic research for bone and mineral metabolic disorders. Her basic background is in molecular endocrinology applied to clinical medicine.
She developed several novel cell biological models used in basic research worldwide. Her reputation in the area of bone and mineral metabolism is well recognized nationally and internationally. She owns 7 patents and she published over 700 papers in peer reviewed journals and 250 chapters in books. She has been and is the main investigator for several major applications granted from national and international Agencies and Institutions.
She was the President of the Italian Society of Osteoporosis, she serves as a member of the Scientific Committee of the International Osteoporosis Foundation, she is General Secretary of the European Society for Clinical and Economic Aspects of Osteoporosis and Osteoarthritis and President of the Fondazione Italiana per la Ricerca sulle Malattie dell’Osso. She is the Editor-in-Chief of Clinical Cases in Mineral and Bone Metabolism.
WG6 Co-Leader Interactions with Other ERNs
MD, PhD, associate Professor at the Department of Internal Medicine, section Endocrinology, of Erasmus Medical Center Rotterdam, the Netherlands. She has initiated and is heading the Erasmus MC Bone Center, a multidisciplinary expertise center for patients with complex and rare metabolic bone diseases and disorders of calcium and phosphate homeostasis. She is president of the Dutch Society for Calcium and Bone Metabolism (NVCB) and board member of the European Society of Calcified Tissues (ECTS).
Her research topics concern the genetic background of complex and rare bone diseases, unexplained familial osteoporosis and atypical femur fractures. She is actively involved in several large international consortia aimed at elucidating the genetic background of complex diseases such as osteoporosis.
She is principal investigator in several multi-center trials on treatment of disorders in calcium and bone metabolism. She has co-authored more than 160 publications and book chapters.
Multidisciplinary Care -eHealth Tools
Maria Beatrice Michelis
WG7 Leader Multidisciplinary Care -eHealth Tools
Dr. Maria Beatrice Michelis is a specialist in Orthopedics and Traumatology, Istituto G Gaslini, Genoa, Italy.
Since 2003: Istituto Gaslini, Orthopedics Division; in charge of the management of Bone of Bank, Oncology consultant, in charge of orthopedic Rare Diseases certification, in charge of the warning of adverse events for orthopedics, responsible for the thermoablation at the TAC, responsible for paramedic and medical staff training and update for Orthopedics(RAF), Professional role for Oncological and Reconstructive Orthopedics, responsible for Good Use of Blood in Orthopedics.
Since 1996: Oncological and Reconstructive Surgery Center (Prof. R. Capanna) of Florence, collaboration
WG7 Co-Leader Multidisciplinary Care -eHealth Tools
Giovanna Mantovani is an Associate Professor of Endocrinology at the University of Milan and Head of the “Referral Center for the Study and Care of Pituitary Tumors” at Fondazione IRCCS Ca’ Granda Policlinico in Milan.
In the past 15 years, her research has been focusing on 3 main topics: 1) the study of the role played by the cAMP/PKA cascade in the control of proliferation of tumoral endocrine, and in particular pituitary tumors 2) the study of the relationship existing between GNAS-related diseases and the regulation of transcription of the Gs alpha gene in humans, and 3) the clinical and molecular characterization of patients with related rare metabolic disorders, particularly iPPSDs (inactivating PTH/PTHrP signalling disorders).
She is a member of the Euro-PHP consortium for (epi)genetic diagnosis of Pseudohypoparathyroidism and the EU COST- BM1208 program European Network for Human Congenital Imprinting Disorders (EUCID, http://www.imprinting-disorders.eu). These collaborative efforts have led to the recent organization of the first Consensus Meeting on Pseudohypoparathyroidism and related disorders (Paris, March, 2017) (Mantovani G et al, Nature Reviews Endocrinology 2018).
She has published more than 150 papers on international peer-review journals.
Education and Training
Neveen A.T.C. Hamdy
WG8 Leader Education and Training
Neveen A.T. Hamdy is Associate Professor Emeritus of Medicine and Endocrinology and Medical & Scientific Advisor for the Centre for Bone Quality of the Leiden University Medical Centre in The Netherlands. She has been working in the field of Bone and Mineral Metabolism for over three decades.
Throughout her career, she has been actively involved in clinical, teaching and research activities and continues to be engaged in mentoring and coaching PhD students and fellows-in-training in the field of Bone & Mineral disorders. She is member of the Committee of Scientific Advisors of the International Osteoporosis Foundation (IOF), and member of the IOF’s Skeletal Rare Diseases (SRD), and Cardiovascular Diseases and Bone fragility (CVD) Working Groups. She is founder member of the International Consortium for Fibrous Dysplasia/ McCune-Albright syndrome (FD/MAS).
Over the years, she has been on the Faculty of a number of post-graduate courses, currently including the IOF Skeletal Rare Diseases courses. She is past leader of the Bone & Mineral Disease group of the Leiden University Medical Center, member founder and past director of the Leiden Centre for Bone Quality, and past president of the Dutch Society for Bone & Mineral metabolism.
Her areas of research interest include secondary osteoporosis, parathyroid disorders, transplantation bone disease and rare bone diseases (especially fibrous dysplasia, sclerosing bone disorders and the chronic sterile osteomyelitis syndromes). She has authored and co-authored more than 250 original articles, reviews and book chapters on disorders of Bone & Mineral Metabolism. She is member of a number of national and international scientific associations including IOF, ASBMR, ECTS, ESE and ERA-EDTA and regularly serves as peer reviewer for International Journals on topics related to Bone & Mineral Disorders.
WG8 Co-Leader Education and Training
Dr Padidela is a consultant in Paediatric Endocrinology and lead for metabolic bone disorder service at the Royal Manchester Children’s’ Hospital (RMCH), UK.
He completed his training in Paediatric Endocrinology at the Royal London Hospital, Great Ormond Street Hospital and University College London Hospital.
RMCH is a tertiary centre for rare bone disorders. Dr Padidela has a strong interest in research and is managing clinical trials in new medications for bone disorders. He also has research interest in epidemiological studies on micronutrients and bone and muscle interactions.
Visibility towards Patients and HCPs
WG9 Leader Visibility towards Patients and HCPs
Luca Sangiorgi holds a Medical Degree from the Bologna University, a Clinical Genetics PhD at “La Sapienza” Rome University and a Master Degree in Research Promotion and Governance in Hospital Trusts and Local Health Units at the Modena and Reggio Emilia University. He is Head of the Medical Genetics and Rare Orthopaedic Diseases Department of the Rizzoli Orthopedic Institute in Bologna. He is coordinator of the Rizzoli Rare Disease Center and the Regional Hub and Spoke Network on Rare Bone Disorders.
He coordinates four Rare Disease (RD) National Registers and BIOGEN biobank, and, since 2018, he took over the coordination of the Telethon Network of Genetic Biobanks. He is also the current coordinator of the BBMRI-ERIC RD Interest Group and of the BBMRI.it RD working group. Finally, he is the ERN BOND coordinator. He has been appointed President of Connective Tissue Oncology Society and International Skeletal Dysplasia Society.
WG9 Co-Leader Visibility towards Patients and HCPs
Patient expert, scientific advisor and independent consultant in orphan drugs R&D since 2015. Background in Veterinary Medicine having practiced for 7 years. Post-graduation in Surgery. 2 years frequency in a PhD in Veterinary Sciences. EUPATI Fellow, and Vice-President of EUPATI Portugal. Patient representative and Steering Committee member at the European reference network for Rare Bone Disorders, ERN BOND. Invited expert for European joint program for rare diseases, EJP RD, EMA patient expert, member of E-rare and Rare 2030 expert panel. IMI Patient expert, EURORDIS volunteer. Gemstone COST action communication co-leader.
Board President of ANDO Portugal, the National Association for Skeletal Dysplasias. Co-leader of the European Rare Bone Forum and member of diverse European Patient-led Initiatives. Founder and author of “Beyond Achondroplasia”. Mother of 3 children, 1 boy and 2 girls, one was born with achondroplasia. Living at an UNESCO heritage city, Évora, in Portugal.
WG9 Co-Leader Visibility towards Patients and HCPs
Rebecca Tvedt Skarberg is 44 years old and lives in Oslo, Norway. Her personal experience living with a rare condition comes from being born with osteogenesis imperfecta (OI).
Rebecca is a trained social worker with additional degrees in psychology and counseling. For 12 years she worked at the national social welfare office where she worked on different projects ranging from long term unemployed, to victims of human trafficking. In 2014 she started working at the Norwegian National Advisory Unit on Rare Disorders. The unit consists today of 9 resources centers on rare disease as well as the administrative hub. Combined the unit provides expertise and services to the rare disease population in Norway.
Rebecca has been interested in policies concerning people with disabilities from an early age. Her interest for rare disorders stems from her own personal experiences, but have broadened through her extensive engagement on the field of disability both at a national and international level. She is especially involved patient advocacy and patient involvement to work together to understand the unmet needs of people living with a rare disorder. She participated in the establishment of the European Reference Network for rare bone disorders (ERN BOND) and is an elected patient representative (ePag) for the steering committee. Rebecca was newly appointed member of the panel of experts of the Rare2030 Project and is excited to continue promoting independency and quality of life for people with rare disorders.