Hereditary Skeletal Disorders / A New Expertise Center at Human Genetics Amsterdam UMC

SECTION: CENTER FOR CONNECTIVE TISSUE RESEARCH

In 2021, the Center for Connective Tissue Research of the Department of Human Genetics – Amsterdam UMC was recognized by the Dutch Federation of Academic Medical Centers (NFU) as a national expertise center.

At the Center for Connective Tissue Research (CCT), we are dedicated to the study of monogenic bone disorders. Our mission is to investigate the genetic causes and unravel the underlying biologic mechanisms of diseases such as osteogenesis imperfecta (OI), fibrodysplasia ossificans progressiva, hereditary osteoporosis, fibrous dysplasia, and Camurati-Engelmann disease.

“We are delighted that the Dutch Federation of Academic Medical Centers (NFU) has accredited Amsterdam UMC as national expert center for these hereditary skeletal disorders. It is a recognition of our expertise and outstanding efforts to promote excellence in research, care and education regarding these conditions.” Dr. Dimitra Micha, head of the Center for Connective Tissue Research.

Hereditary bone disorders

Hereditary skeletal disorders account for approximately 10% of all genetic diseases. Nevertheless, these monogenetic bone disorders are rare. For example, there are about 1000 patients with osteogenesis imperfecta in the Netherlands. Most patients affected by hereditary bone disorders suffer from chronic and severe symptoms and effective treatments are generally unavailable.

From bedside to bench and vice versa

As a section of the Department of Human Genetics, we believe that meaningful preclinical research starts with questions from the clinic. This involves not only supporting diagnostics improvement but also addressing issues that critically affect a patient’s quality of life.

Together with the section Clinical Genetics and Department of Endocrinology, we are exploring clinical aspects of these diseases in order to fully characterize the disease burden and understand the impact of the underlying biology. This is done both in the context of a weekly multidisciplinary expert meetings (MDO) for rare bone diseases and preclinical research projects.
Our center has been very successful in gene discovery and has identified several genetic causes for OI, hereditary osteoporosis, and aortic aneurysm disease. These breakthrough discoveries have been used to improve the molecular diagnosis of affected patients by our Genome Diagnostic Laboratory. The Human Genetics diagnostic lab is the national referral center for the genetic testing of OI, which we support with our expertise in functional studies. Excellence in diagnostics for patients with these five bone diseases contributed to the accreditation of Amsterdam UMC as an Expertise Center for connective tissue and bone diseases. In addition to bone disease genetics in the Netherlands, we have also expanded to patient populations in Eastern Europe, Vietnam and Indonesia.

On a mission to find effective treatments

In line with the missions of the Department of Human Genetics and Emma Children’s Hospital, the development of effective treatments is a top priority for the Centre for Connective Tissue diseases. Our research projects include drug screening using unique cell models developed in our lab, the production of stem cells for bone tissue regeneration, gene therapy development, and the characterization of biomaterials. In addition, we are also creating genetically engineered mouse models for these hereditary diseases in order to facilitate the preclinical validation process of potential therapies.

National accreditation by the Dutch Federation of Academic Medical Centers

In the evaluation, appreciation was given to the high-quality preclinical research and the expertise of human genetics in the molecular diagnosis of hereditary skeletal disorders. Equally complemented were the clinical care guidelines and studies which have been organized in close collaboration with Dr. Marelise Eekhoff, Department of Endocrinology, within our network of the Amsterdam Bone Center.

New opportunities to improve research and care

The accreditation by NFU is a steppingstone that will facilitate the growth our research and care activities. Because of this recognition, it is apparent to other organizations that provide research funding or patient support that our expertise centers united within Amsterdam Bone Center operate at a world-class level, characterized by optimal integration of research, multidisciplinary patient care, and specialized diagnostic facilities. The enhanced visibility due to NFU recognition has already resulted in our participation in the European Reference network on Rare Bone Diseases (ERN BOND). Access to a broad European network is a key element that will facilitate new scientific discoveries aimed at finding effective treatments and improving the quality of life for patients with hereditary skeletal disorders.
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