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362108

Bone-specific therapeutic modalities for genetic skeletal diseases

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Last updated: 29 Dec 2024

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Abstract

Skeletal dysplasias are a heritable group of disorders that affect bone and cartilage development. They present in a wide variety of presentations and variable ranges of severity affecting the quality of life of these patients. They also represent a therapeutic challenge owing to poor understanding of the underlying pathological mechanisms. Currently, the treatment is mainly symptomatic, including medical, surgical, and physical therapy. Recent advances in the genetic technology have helped to identify new causative genes and better understanding of the pathological mechanisms of genetic skeletal diseases, and this opened the doors for innovative discoveries of new therapies that are disease specific. This review outlines the normal bone development process and factors involved in bone growth and demonstrates current and recent therapeutic modalities in a wide group of genetic bone diseases, including osteogenesis imperfecta, mucopolysaccharidosis, hereditary rickets, hypophosphatemia, hypophosphatasia, achondroplasia, fibrodysplasia ossificans progressiva, and osteopetrosis. Some of these therapeutic targets have been approved and others are currently under clinical trial investigations. Remarkable advances and availability of new therapeutic options would give hope to clinicians and a wide variety of patients with skeletal dysplasia for better chances of management in the future and amelioration of their skeletal disabilities.

DOI

10.4103/MXE.MXE_3_20

Keywords

bone development, genetic technology, Genetic, new therapies, pathological mechanism, skeletal dysplasia, Therapeutic modalities

Authors

First Name

Samia A.

Last Name

Temtamy

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Orcid

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Volume

8

Article Issue

2

Related Issue

48654

Issue Date

2020-07-01

Receive Date

2020-01-27

Publish Date

2020-07-11

Print ISSN

2090-8571

Online ISSN

2090-763X

Link

https://mxe.journals.ekb.eg/article_362108.html

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https://mxe.journals.ekb.eg/service?article_code=362108

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362,108

Publication Type

Journal

Publication Title

Middle East Journal of Medical Genetics

Publication Link

https://mxe.journals.ekb.eg/

MainTitle

Bone-specific therapeutic modalities for genetic skeletal diseases

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Article

Created At

29 Dec 2024