Molecular simulations help us understand the structure and functionality of biomolecular systems. For example, simulations of chemical reactions involved in the metabolism of neurotransmitters help us understand how variation in the activity of monoamine oxidase (MAO) (enzymes that control the neurotransmitters levels) is connected to neurological disorders such as depression and autism. It also shows how oxidative stress (resulting from reactions in this metabolism) influences the development of neurodegenerative diseases such as Parkinson or Alzheimer. Getting this very detailed insight into the chemical processes, combined with genomic medicine data, requires extensive computing capability and can be used to accurately predict the varying activity of an enzyme due to genome variations in humans.
Identification of genetic causes of human disease is the cornerstone of precision medicine and enables preventive, predictive and personalized management for patients. In the last decade, human disease genetics has been transformed by novel genomic technologies that now permit accessible sequencing of whole human genomes. Slovenia has rapidly introduced these technologies in routine medical diagnostics, revolutionizing genetic testing in patients suffering from rare diseases. In oredr to assure rapid analysis of large amounts of data generated by these novel technologies, there was a need for collaboration with the national supercomputing facilities.
Slovenian doctors used supercomputing infrastructure to massively accelerate genetic diagnostics, passing from more than one month to less than a few days, sometimes just a day. The use of supercomputers also allowed more comprehensive analysis of genetic material, which is crucial for diagnostics of patients with severe epilepsy, of critically ill newborns, in pre-natal diagnostics and for precision treatment of people with rare diseases. These novel approaches have also been a driver for novel discoveries in the field of human genetics, including identification of over a thousand of novel genes for human diseases in the recent years.
The picture attached shows a flow cell for genome sequencing. Flow-cells are used for massively parallel sequencing of nucleic acids so that single flow-cell can be used to form several billions of microscopic sequencing reactions, allowing for sequencing of tens of human genomes in a single run. Downstream processing of generated data with HPC clusters is the basis for fast and efficient diagnosis and research of several rare and common genetic disorders in humans.