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Project
Identification of a novel disease causing gene for osteopetrosis using next generation sequencing technology.
The osteopetrosis rat is a spontaneously developped rat model for osteopetrosis, a rare bone disorder marked by increased bone density as a result of decreased bone resorption. Previously, we showed that the disease causing gene is located in a 1.36Mb region on rat chromosome 10. Here, we aim to identify the disease causing mutation using NGS technology and we will try to confirm the role of the identified gene in human osteopetrosis patients.
Date:1 Feb 2015 → 31 Dec 2015
Keywords:OSTEOPETROSIS, BONE RESORPTION, OSTEOCLAST, ANIMAL MODELS
Disciplines:Genetics, Systems biology, Molecular and cell biology, Orthopaedics