Work Package 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.

Karen E. Heath

Karen Heath is coordinator of the Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario la Paz, Madrid (since 02/2024). Her titles are in clinical molecular genetics and she is a certified clinical laboratory geneticist, with certification from the European Board of Medical Genetics. Since 2008 she leads the Skeletal dysplasia diagnostic and research group. 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, other European countries and from South America attend. She is member of many genetic societies and the International Society of Skeletal dysplasias (ISDS). Her laboratory provides genetic diagnostic service for numerous Spanish, Portugues and South American hospitals. She is also an assessor in the European Molecular Quality Network (EMQN) schemes. She has many international collaborations and has published more than 100 papers (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.

Sérgio B. Sousa

Medical Geneticist
Hospital Pediátrico de Coimbra, Coimbra, Portugal
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. He did an MSc in Molecular Medicine and Oncology at the University of Porto. Sérgio has received several awards including the John M. Opitz Young Investigator Award in 2010 for his work in Nicolaides-Baraitser Syndrome. He 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 – Great Ormond Street Hospital, London, focused on identifying novel genes for rare unsolved syndromes.He is the President-elect of the Portuguese Society of Human Genetics for 2025, of which he has previously been a member of the Scientific Committee and of the Board. He was also member Board Member of the European Society of Human Genetics 2019-2024. 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 20 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 Unidade Local de Saúde de Coimbra.