Working Groups Leaders

Valérie Cormier-Daire

Valerie Cormier-Daire (MD, PhD) is Professor of Genetics at the University Paris Centre. She is heading the French reference center for constitutional bone disorders involved in the diagnosis, management and long term follow up of patients with osteochondrodysplasia. She is also Head of the Genetic Clinic Unit in Necker Hospital (since 01/2/2017) and of a research team, since 1998, in INSERM Unit UMR1163 (Imagine Institute) entitled “Molecular and physiopathological basis of osteochondrodysplasia”. She created a specific academic training course on skeletal dysplasia (university diploma) as one for medical students on Rare Disorders. She is involved in a number of national and international scientific societies and patient associations.
She is the author of 445 peer reviewed publications and laureate of 8 national and international awards, She is partner in 8 industrial projects on clinical trials dedicated to skeletal dyspasia and is owner of 2 patents.

Geert Mortier

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 where he is funded by the prestigious Methusalem grant. 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. He is currently coordinator of the Flemish Network for Rare Bone Disorders and International Coordinating Investigator for the Dreambird study (natural history study for achondroplasia sponsored by Therachon/Pfizer). His research bibliography is available at Researcher ID:D-2542-2012 and ORCID ID: 0000-0001-9871-4578

Karen E. Heath

Karen Heath studied in the UK (BSc Hons, MSc and PhD), worked in the US and since 2001 is based in Madrid, Spain. She is a certified clinical laboratory geneticist, with certification from the European Board of Medical Genetics. Since 2008 she leads the Skeletal dysplasia Research and diagnostic group in the Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Madrid. She co-founded the Skeletal dysplasia multidisciplinary unit in her hospital and organises the Annual meeting of the Unit to which heathcare specialists from all over Spain and from South America attend. Her laboratory provides genetic diagnostic service for numerous Spanish, Portugues and South American hospitals. She has many international collaborations and has published more than 100 papers (ResearcherID: K-7760-2014; ORCID 0000-0002-5816-7044) in the identification and characterization of genetic defects in skeletal and growth disorders, with special interest in SHOX and the NPR-B/CNP/FGFR3 signalling pathways in human growth.

Others

  • Clinical molecular genetic consultant for various private genetic laboratories
  • European Molecular Quality Network (EMQN) assessor for the SHOX scheme
  • Orphanet contributor and LOVD curator
  • Faculty member in the Annual Introductory Course in Skeletal dysplasias, Centro Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland
  • Member of the European Society of Human Genetics, Spanish society of Human Genetics (AEGH), Spanish Society of Pediatric Endocrinologists (SEEP)
  • Scientific advisor for various patient associations

Lars Sävendahl

Lars Sävendahl is Professor and Chief of Paediatric Endocrinology, Department of Women’s and Children’s Health at Karolinska Institutet, Stockholm, Sweden. He received his MD and PhD degrees from Umeå University and subspecialty training in Paediatric Endocrinology at the University of North Carolina (UNC) Hospitals, Chapel Hill, USA.
Professor Sävendahl is also the Director of research and education at Astrid Lindgren Children’s Hospital in Stockholm. His research focus is on bone growth and growth plate physiology including experimental, epidemiological, and clinical studies. His major research interest is hormonal regulation of bone growth. Professor Sävendahl’s is the supervisor of several post-graduate research students and post-doctoral fellows working in his research group. He has been active in national and international societies including the European Society for Paediatric Endocrinology (ESPE) where he earlier served as the Secretary General

Eva Åström

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.

Klaus Mohnike

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.

Maria Luisa Brandi

Doctor 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 was Full Professor of Endocrinology and Metabolic Diseases at the University of Florence, Florence, Italy until November, 2020. She is Professor of Endocrinology and Metabolic Diseases at the University Vita-Salute, San Raffaele, Milano, Italy and at McMaster University, Toronto, Canada. She is President of the Italian Observatory on Fragility Fractures and Director of the Donatello Bone Clinic of Florence. She is Scientific Director of the Stabilimento Chimico Farmaceutico Militare of Italy and President of the Italian FRAME Project for the secondary prevention of fragility fractures. She is Member of the Group on Fragility Fractures of the Tuscany Region.
She is active both in clinical and in basic research in the area of 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 800 papers in peerly 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 serves as a member of the Board and of the Scientific Committee of the International Osteoporosis Foundation; she is chairing the Skeletal Rare Diseases’ Academy 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 The International Journal of Fragility Fractures.

Natasha Appelman-Dijkstra

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 an active member of PARAT, the European society for Endocrinology’s expert program for parathyroid diseases, she serves as a member in the educational committees for the ASBMR and IFMSR, is the secretary of the “NVE-BoNe”, a national working group for calcium and bone disorders of the Dutch society for Endocrinology (NVE), 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.
She is a PI in 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. Since 2020 Natasha is the coordinator of ERN BOND’s affiliated registry EuRR-Bone (www.eurr-bone.com) , the European Registry for Rare Bone and Mineral conditions.

Roland Chapurlat

Maria Luisa Brandi

Doctor 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 was Full Professor of Endocrinology and Metabolic Diseases at the University of Florence, Florence, Italy until November, 2020. She is Professor of Endocrinology and Metabolic Diseases at the University Vita-Salute, San Raffaele, Milano, Italy and at McMaster University, Toronto, Canada. She is President of the Italian Observatory on Fragility Fractures and Director of the Donatello Bone Clinic of Florence. She is Scientific Director of the Stabilimento Chimico Farmaceutico Militare of Italy and President of the Italian FRAME Project for the secondary prevention of fragility fractures. She is Member of the Group on Fragility Fractures of the Tuscany Region.
She is active both in clinical and in basic research in the area of 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 800 papers in peerly 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 serves as a member of the Board and of the Scientific Committee of the International Osteoporosis Foundation; she is chairing the Skeletal Rare Diseases’ Academy 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 The International Journal of Fragility Fractures

Giovanna Mantovani

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 interplays between the cAMP/PKA cascade and the cytoskeleton in the determination of biological behavior of endocrine 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). From a translational point of view, the demonstration of G alpha imprinting in the human pituitary has led to the first description of GH deficiency due to GHRH resistance in patients with Pseudohypoparathyroidism and to the subsequent publication of the first series of patients treated with rhGH.
She is a member of the Euro-PHP consortium for (epi)genetic diagnosis of Pseudohypoparathyroidism and of the past 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 200 papers on international peer-review journals (mean IF: 5.6, H-index: 41 – Scopus).

Carola Zillikens

Carola Zillikens, MD, PhD, is Professor and staff member at the Department of Internal Medicine, section Endocrinology, of Erasmus Medical Center Rotterdam, the Netherlands. She founded and heads the Erasmus MC Bone Center, a multidisciplinary expertise center for patients with common and rare disorders of calcium and bone metabolism. She is past President of the Dutch Society for Calcium and Bone Metabolism and a past Board Member of ECTS where she chaired the Professional Practice Committee. She is a member of the Steering committee of the European Reference Network for rare bone disorders, BOND. Her research topics concern the (genetic) background of unexplained familial osteoporosis, rare disorders of calcium, phosphate and bone metabolism, atypical femur fractures and the relation of osteoporosis with chronic diseases and mortality. She is coordinating a Dutch national registry for chronic hypophosphatemia, including XLH. She has co-authored over 250 papers.

Neveen A.T.C. Hamdy

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.

Luca Sangiorgi

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.
Luca Sangiorgi, Director of Department of Rare Skeletal Disorders, is the coordinator of the Rare Diseases Centre of Rizzoli Ortopaedic Institute and responsible of 4 National Registers of Rare Disease (Multiple Hereditary Exostoses, Osteogenesis Imperfecta, Ehlers-Danlos Syndrome, Ollier Disease and Maffucci Syndrome). He’s the coordinator of BIOGEN, diagnostic and research genetic biobank, and of Telethon Network of Genetic Biobanks. He’s been nominated Delegate for the European Research Infrastructure BBMRI working on Rare Disease Biobanks. From March 2017, is the coordinator of the European Reference Network on Rare Bone Disorders – ERN-BOND.
He’s the first author who has contributed to more than 80 articles published in impacted journals such as Nature Genetics, American Journal of Human Genetics, PLOS Genetics, Human Mutation, Orphanet Journal of Rare Diseases (Index H: Scopus 25 Google Scholar 27).

Inês Alves

Patient expert, scientific advisor, and independent consultant in orphan drugs R&D since 2015. Holds a degree in Veterinary Medicine with a post-graduate qualification in surgery. Founder and President of ANDO Portugal, the Skeletal Dysplasia National Association in 2015. Founder of “Beyond Achondroplasia”. EUPATI fellow and Vice-President of EUPATI Portugal since 2017. Member of the management committee and communication co-leader of Gemstone COST action, with a focus on genomics of musculoskeletal traits since 2018. Founder and first chair of the European Rare Bone Forum, a patient-led initiative for discussing rare bone conditions, created in 2019. Patient representative (ePAG) and has been a member of the ERN-BOND Steering Committee since 2017. Patient Expert for EMA and IMI, is also member of EURORDIS E-rare and Rare 2030 expert panel. Invited reviewer for Horizon 2020 calls, the European Joint Programme on Rare Diseases, and for new centre applicants for the European Reference Networks since 2019. Nominated by the European Commission for the Committee for Orphan Medicinal Products (COMP) at the European Medicine Agency in 2021. PhD student in Human Motricity, is mother of 3 children, 1 boy and 2 girls, one was born with achondroplasia. Living at an UNESCO heritage city, Évora, in Portugal.

Rebecca Skarberg

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.