Bone Abstracts

The quantum leaps in scientific progress have frequently come from technological innovations, which can be referred to as the technology push. In the life-sciences this has been exemplified by the emergence of all kinds of ‘omics’ technologies reflecting the capacity to analyse complete and complex molecular mixtures in a hypothesis-free approach, also known as ‘fishing expeditions’ by more sceptical fellow scientists. Such approaches have been developed for DNA, RNA, and protein molecules and the Human Genome Project has been the flagship project to highlight the successful use of such technologies. As a result many human disease areas, including bone disease, have applied these technologies to progress biological understanding of disease mechanisms.

Driven by technological progress and concomitant shifts in research culture, gene discovery in complex diseases and traits has intensified in the past decade and led to some spectacular findings as a result of sequencing of human pedigrees with segregating bone diseases and genome-wide association studies (GWAS). GWAS build upon i) human genetic variation, ii) genotyping technology, iii) Bio-banks, and iv) collaboration in consortia. I will discuss progress in this field, based on using cohort studies and consortia. Similar but more recent developments have taken place in the fields of RNA expression profiling and measures of DNA methylation, as examples of genomics technologies together with proteomics and metabolomics by mass spectrometry methods. The latest developments include the application of Next Generation Sequencing technologies to analyse DNA sequence, RNA composition, and DNA methylation.