Diagnostic Challenge

Valérie Cormier-Daire

Valérie Cormier-Daire

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
Meena Balasubramanian

Meena Balasubramanian

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

Michael James Wright

WG2 Leader Research

Consultant in Clinical Genetics Northern Genetics Service, Newcastle upon Tyne Hospital NHS FT (Fully NHS Funded) (2000-Date).

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.

Geert Mortier

Geert Mortier

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

Lars Sävendahl

Lars Sävendahl

WG3 Leader Good Practice & Guidelines

Professor of Pediatric Endocrinology at Karolinska Institutet, Stockholm, Sweden.

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.

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.

Giedre Grigelioniene

Giedre Grigelioniene

WG3 Co-Leader Good Practice & Guidelines

MD, PhD, clinical geneticist and pediatrician at Karolinska University Hospital and Senior Researcher at Karolinska Institutet, Stockholm, Sweden.

Her postdoctoral training was at the Endocrine Laboratory, Massachusetts General Hospital, and at Harvard Medical School, Boston, MA, USA.

More than 20 years of experience in clinical, radiographic and genetic diagnosis of rare congenital skeletal disorders.

She has with the skeletal dysplasia team members written instructions for good clinical practice for evaluation of patients with congenital skeletal disorders. Giedre is leading the research project ”Clinical and genetic studies of congenital skeletal disorders” in which clinical information is collected continuously in order to systematically study spectrum of clinical symptoms, complications and pathophysiology of skeletal dysplasias.

Giedre is an expert engaged in revision of good practice recommendations regarding congenital skeletal disorders for the National Organization for Rare Disorders and for the Swedish National Board of Health and Welfare.


Clinical Trials

Nick Bishop

Nick Bishop

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).

Klaus Mohnike

Klaus Mohnike

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

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 with a degree in medicine from the University of London, in 1996. After completing his three-year medical rotation at Southampton General Hospital, he joined the University of Southampton as an Arthritis Research Campaign Clinical Research Fellow, in October 2000. Given his involvement in research, he subsequently completed his post-doctoral degree from the University of Southampton, in 2006. During his research career, he has won the “young Investigator” award six times, which includes 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 disease focusing 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, focusing on epidemiology and interventional research. Dr Javaid has published several original articles in peer-review journals, and is also a part of local guideline committees for management of fragility fractures in different patient populations.

Corinna Grasemann

Corinna Grasemann

WG5 Co-Leader Database: Natural History of Diseases


Interactions with Other ERNs

Maria Luisa Brandi

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.


Carola Zillikens

Carola Zillikens

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.

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

Maria Beatrice Michelis

WG7 Leader Multidisciplinary Care -eHealth Tools

Specialist in Orthopedics and Traumatology, Istituto G Gaslini

Since 2003:Istituto Gaslini, Genova, 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


Giovanna Mantovani

Giovanna Mantovani

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

Neveen A.T.C. Hamdy

WG8 Leader Education and Training

November 2016 to present: Emeritus Associate Professor of Medicine & Endocrinology and Chief Executive Officer and Medical & Scientific Advisor, Centre for Bone Quality, Leiden University Medical Centre, Leiden, The Netherlands

Membership of societies

American Society for Bone and Mineral Research (ASBMR) 1985-

International Bone and Mineral Society (IBMS) 1990-

Dutch Society for Calcium & Bone Metabolism (NVCB) 1990-

European Society of Endocrinology (ESE) 1997-

The Netherlands Endocrine Society (NVE) 1997-

European Dialysis and Transplantation Association (EDTA-ERA) 1987-

The Netherlands Internists’ Association (NIV) 1994-

British Medical Association (BMA) 1977-

Royal College of Physicians of London 1981-

Dutch Osteoporosis Patients’ Association 1990-1996

Dutch Paget Patients’ Association 1990-2015

Dutch SCCH Patients’ Association 1998- (Scientific Advisory Board)

Dutch Fibrous Dysplasia Patients’ Association 2016- (Scientific Advisory Board)

Raja Padidela

Raja Padidela

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

Luca Sangiorgi

Luca Sangiorgi

WG9 Leader Visibility towards Patients and HCPs

Rebecca Skarberg

Rebecca Skarberg

WG9 Co-Leader Visibility towards Patients and HCPs