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

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

• bone diseases
• osteopetrosis
• multiple exostosis
• various ultra-rare skeletal dysplasias