Special Issue "Genetic Disorders of Bone"
Deadline for manuscript submissions: 10 December 2021.
2. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Faculty of Biology, University of Barcelona, Barcelona, Spain
Interests: genetics; osteoporosis; atypical femoral fracture; high bone mass; osteogenesis imperfecta; functional validation of genetic variants; mendelian diseases of bone; intellectual disability;
Interests: genetics; osteoporosis; atypical femoral fracture; high bone mass; osteogenesis imperfecta; functional validation of genetic variants; mendelian diseases of bone; intellectual disability; lysosomal diseases;
Interests: bone phenotypes; atypical femoral fracture; healthy ageing; functional validation of genetic variants; musculoskeletal mendelian diseases; big data analysis;
In the past decade, massive sequencing has revolutionized genetic variant discovery and has allowed for the definition of many new Mendelian diseases, which were not amenable to linkage analysis. Genetic diseases affecting bone have not been an exception. Notably, osteogenesis imperfecta has witnessed the identification of a growing list of causal genes, beyond COL1A1 and COL1A2 and a large number of skeletal dysplasias have been genetically defined. Nonetheless, there are still some bone conditions awaiting the identification of their precise genetic cause. Likewise, during the past decade, an explosion of GWA studies on the polygenic basis of osteoporosis has uncovered hundreds of loci involved in the determination of bone mineral density (BMD) and osteoporotic fracture.
It is time to share and combine all this genetic information and to investigate the functional consequences at molecular, cellular, physiological, and organismal levels. The present “omics” era should allow for a fruitful integration of data from many different sources, including genomic (both germline and somatic variation), epigenomic, transcriptomic, proteomic, metabolomic, pharmacogenetic, and phenomic sources.
This Special Issue invites papers on genetic disorders of the bone and extracellular matrix in a broad sense, to highlight bone as an essential tissue and to provide new and detailed description of its workings in health and disease.
Dr. Susanna Balcells Comas
Dr. Daniel Grinberg
Dr. Natalia Garcia-Giralt
Manuscript Submission Information
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- Mendelian bone dysplasia
- Bone fracture
- Pharmacogenetics of bone
- Polygenic risk score for osteoporosis
- Somatic mutations in bone disorders
- Omics aspects of bone diseases
- Animal models for bone phenotypes