Work Packages Leaders

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).

Klaus Mohnike

(Leader of the sub-activity on ERN BOND engagement in 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.

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,
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).

Sérgio B. Sousa

Sérgio B. Sousa is a Medical Genetics specialist at the Hospital Pediátrico de Coimbra in Portugal. He obtained his medical degree from the University of Coimbra, where he subsequently did his Medical Genetics specialization, and completed an MSc in Molecular Medicine and Oncology at the University of Porto. Sérgio trained in multiple centres across Europe, including the Centre de Référence des Maladies Osseuses Constitutionnelles, Hôpital Necker-Enfants Malades, Paris, and completed his PhD in 2014 at the UCL Institute of Child Health, London, focused on identifying novel genes for rare unsolved syndromes.
He has received several awards including the John M. Opitz Young Investigator Award in 2010 for his work in Nicolaides-Baraitser Syndrome.
Sérgio is a member of the Scientific Committee of the Portuguese Society of Human Genetics, of which he has previously been a Board Member, and is also a Board Member of the European Society of Human Genetics. He is a reviewer for a number of journals including the European Journal of Human Genetics, American Journal of Human Genetics, and European Journal of Medical Genetics.
He has over 15 years’ experience in Medical Genetics, with special interests in dysmorphology and skeletal dysplasia, and is the Coordinator of the skeletal dysplasia multidisciplinary team at the Centro Hospitalar e Universitário de Coimbra.

Natasha Appelman-Dijkstra

(Activity on EURR-Bone)

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 ( , the European Registry for Rare Bone and Mineral conditions.

Roland Chapurlat

(Activity on EURR-Bone)

Lena Lande Wekre

(Activity on gait analysis)
Lena Lande Wekre, MD, PhD, works as Senior Consultant in the Skeletal Dysplasia team at TRS National Resource Center for Rare Disorders, Sunnaas Rehabilitation Hospital, Norway.

She has been working in the field of rare disorders since 1999, especially with connective tissue disorders and skeletal dysplasias including Arthrogryposis Multiplex Congenita. As part of her PhD, she conducted a population-based study on adults with Osteogenesis Imperfecta. She collaborates closely with the Section of Children’s Orthopaedics and Reconstructive Surgery, Department of Medical Genetics and Department of Paediatrics, Oslo University Hospital (OUS), in three multidisciplinary clinics for respectively skeletal dysplasias, osteogenesis imperfecta and achondroplasia. Together with the Section of Children’s Orthopaedics, OUS, she is currently working on a Norwegian registry for rare bone disorders (all ages).

She has worked as a medical advisor in the Norwegian National Unit on Rare Disorders, been Orphanet-coordinator, and represented Norway in the EU initiated project for rare disorders, RD-action. She has always collaborated closely with several patient-associations, and been (is) a member of some Medical Advisory Boards.

Neveen A.T.C. Hamdy

(Activity on Education & 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.

André Travessa

(Activity on Education & training)

André Travessa graduated in Medicine at Lisbon School of Medicine, specialized in Medical Genetics at North Lisbon University Hospital Centre, and obtained a postgraduate diploma in Healthcare Management at ISCTE-IUL. He is currently Consultant Clinical Geneticist at North Lisbon University Hospital Centre, where he is coordinator of the skeletal dysplasia team, and teaching assistant of histology and developmental biology at Lisbon School of Medicine. He is member of the Portuguese Society of Human Genetics, the European Society of Human Genetics, the GruPEDGE working group, and the International Skeletal Dysplasia Society. He published 12 papers in international peer-reviewed journals and presented several communications in national and international conferences and meetings in the field of skeletal dysplasias. He is involved in research projects in the field of osteogenesis imperfecta and other skeletal dysplasias, coordinating some of them and collaborating with international research groups.

Maria Luisa Brandi

(Activity on Guidelines)

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

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.

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.


  • 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