Every individual holds around 37 billion cells in their body. If we counted 1 cell every second, we would need more than a million years to count all of them. Every cell in our body originates from the single cell (zygote) formed at fertilisation. Therefore, all cells carry the same genetic information in the form of DNA – the genome. Specific alterations (mutations) of the genome lead to various diseases or tendencies towards ones from depression to obesity and cancer.
The first human genome was “read” in 2003. This was not a genome from a single person, but a puzzle made from the DNA of different people. Sequencing (“reading”) of the first genome took international collaboration, 13 years and 5 trillion of today’s dollars. Today, after sequencing hundreds of thousands of genomes, we know that humans are far more complicated than we originally anticipated. A partial reason for this is that different mutations of the same or different genes can cause the same disease. Vice versa, the same mutation can cause different diseases. Moreover, genes influence each other and are further influenced by non-genetic factors such as our lifestyle (diet, physical activity, substance abuse).
A big obstacle in understanding genetic factors in diseases lies in the lack of knowledge on genetic variability in Slovenia. The genomic data of healthy and diseased people would vitally contribute to a better understanding of this concept.
The Slovenian genomic project aims to obtain the missing genomic data by sequencing people suffering from rare diseases and the healthy local population. This will result in the improvement of diagnostic procedures and early detection of rare diseases, leading to improved prognosis and life quality of over 120. 000 patients with rare diseases in Slovenia. Implementation of gathered knowledge will establish Slovenia as one of the most advanced countries in this field.