(*) Deep sequencing:
a technology recently introduced in the molecular genetics research field which empowers the experimenters with the capacity of obtaining literally billions of nucleotides (i.e. the basic components of DNA, letters A,C,G and T) in few days. This advancement will revolutionize many fields of the Life Sciences: medicine but also agriculture, animal science, environmental sciences, microbiology etc.
(*) The human whole-genome sequencing project (Human Genome Project website)
started in 1995 and finished in 2003. It required the collaboration of hundreds of researchers from 20 institutions and six different nations. The first results of this project revealed that the human genome does not contain more than 20-25.000 genes, noticeably less than the expected number of around 100.000. A privately-funded consortium reached the same result almost at the same time.
A last-generation sequencher such as the one acquired by Genomnia (ABI Solid) can sequence a whole human genome in little more than a week and at a cost of less than 100.000 US dollars. The estimated cost of the Human Genome Project was around 270.000.000 US dollars and it took eight years to arrive at the first draft.
- Thanks to a precision in resequencing of 99.94% this deep sequencing technology is well suited for investigating the molecular basis of genome diversity, one of the key issues to clarify the mechanisms of resistance to chemotherapeutics or other pharmacological agents, individual variations in metabolism, susceptibility to allergies etc.
- Genomnia aims in the short term to establish high profile scientific and technological collaborations in order to grow rapidly in experimental and analitical skills. We want to become reliable partners at international level in biomedical research projects, as far as genome and transcriptome deep sequencing and data analysis are involved.
- Following the interests of our scientific committee, we want to focus on neurodegenerative diseases, neurobiology, rare diseases, molecular cardiology, regenerative medicine, nutrigenomics, collaboration with pharma industries for genomic and transcriptional screenings.
- We also want to give strong emphasis to bio-computational methods, statistical analysis, massive database handling and concurrent/parallel programming in collaboration with the National Research Council, IT and software development companies, research Institutes in Italy and abroad.
- We will pay special attention to communication toward the public and the specialized audience, in order to avoid creating false hopes, but also to clarify the enormous potential linked with this technology and to the science empowered by deep sequencing.
The next frontier in genetics, which can be tackled with deep sequencing is epigenetics, i.e. the study of chemical modifications of DNA, or of proteins associated with DNA, which control the ‘reading’ of genes.
The sequence of genes in our DNA contains the instructions, i.e. the software. But the information contained in the epigenetic modifications are the ‘operating system’ of genetics, which handles the genetic message in spatial terms (in which tissue do I activate this instruction?) and temporal terms (in which moment of the development this instruction must be activated?).
The big bet is that, once we have understood all the mechanisms, we will be able to change at least some of the functions of the “operating system” in order to correct the worse defects or to design pharmaceutical agents on more rational basis.