Genetics Studies of Bone Disease
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: closed (10 October 2022) | Viewed by 5199
Special Issue Editor
Interests: growth and maintenance of the skeletal system; inherited disorders affecting bones and joints; osteofibrous dysplasia, primordial dwarfism; genomics of scoliosis; genetics
Special Issue Information
Dear Colleagues,
There are thousands of Mendelian disorders, and over 500 of these affect bones. Bone diseases represent a common source of morbidity and mortality in our communities, and genetic factors play an important role in their pathogenesis. One of the more common forms of bone disease is osteoporosis, which is characterized by reduced bone mineral density and an increased risk of fracture. Several single-gene disorders are known to cause osteoporosis; however, the genetic basis for this multifactorial condition is largely unknown. Other rare bone diseases include osteopetrosis, multiple exostosis and ultra-rare skeletal dysplasias. Determining the underlying mechanisms of these rare conditions is crucial not only for the development of targeted therapies but also for a more comprehensive understanding about the genetic processes taking place in our body that direct development and tissue regeneration. From a clinical standpoint, advances in our understanding about the genetic basis of bone disease will enable the development of new biomarkers to assess fracture risk and help in identifing novel therapeutic targets that could have potential for future treatments.
This Special Issue invites papers focusing on genetic disorders of the bone and extracellular matrix in a broad sense. It aims to highlight bone as an essential tissue and to provide new and detailed findings on its role in health and disease.
Dr. Peter Kannu
Guest Editor
Manuscript Submission Information
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Keywords
- bone diseases
- osteopetrosis
- multiple exostosis
- various ultra-rare skeletal dysplasias
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