Dr Jozef Zustin
Royal National Orthopaedic Hospital, Stanmore.
Osteopetrosis – Morphological
characterisation of rare hereditary skeletal
disease
29th May, 1pm
June Lloyd Seminar Room (PUW4), ICH
ABSTRACT
Osteopetroses are rare genetic diseases, the clinical presentation of which is caused by a defect in
bone resorption by osteoclasts. There are three main subtypes which can be distinguished on the
basis of clinical severity, age of onset and mode of inheritance (dominant benign, intermediate and
recessive forms). Whilst several genes have been involved in the pathogenesis of the different types
of osteopetroses, the CLCN7 and TCIRG1 genes have drawn the attention of many researchers, as
mutations within these genes are associated with distinct phenotypes. Data on several distinct
morphological patterns of bone in cases of osteopetrosis will be presented here together with the
discussion of potential clinical implications. Jozef is interested in developing a clinical service and
collaborations in research and development.
BIOSKETCH
Jozef is a consultant surgical pathologist of 8 years standing, and specialises in musculoskeletal
pathology. His research focuses on characterising the skeletal morphological patterns of hereditary
and metabolic bone diseases, employing amongst other approaches the analysis of undecalcified
bone biopsy specimens. This technique enables morphological, histomorphometric and radiographic
(e.g. micro-computed tomography, backscatter-electron imaging, and Fourier-transform infrared
spectroscopy) analyses of both mineralised and non-mineralized samples of bone tissue. He is a
member of the German National Bone Board and is involved in several multidisciplinary collaborations
with research groups in Germany. The other aspect of his scientific work is the characterisation of
bone-implant interface morphology in arthroplasty specimens focussing on morphological and
subsequent biomechanical changes of bone which results in the loosening of the implanted
prostheses.
Jozef studied as an undergraduate medical student in The Comenius University in Bratislava,
Slovakia. He commenced his histopathology training in the National Cancer Center in Bratislava
Slovakia, and completed this in the Neubrandenburg Clinic, Germany.
Jozef subsequently worked with Prof. Michael Amling in the University of Hamburg, and the University
of Muenster, Germany, where he specialised in musculoskeletal pathology. His diagnostic service and
research interest covered both neoplastic and non-neoplastic bone diseases.
Jozef moved to London in May 2015 and at present, is establishing his practice in the Royal National
Orthopaedic Hospital, Stanmore.