University Research Institute

The Research University Institute (E.P.I.) was established in 1992 (Law 2083/Article 28 & 21 regarding EPIKNP, number B1/738, number B1/741) under the name Institute for the Study and Treatment of Genetic and Malignant Diseases of Childhood, based in Athens. The Institute is a legal entity of private law, linked to the Department of Medicine of the University of Athens and collaborates with the Children's Hospital "Agia Sofia" and private organizations-associations, which have already funded the establishment of a special unit in the aforementioned medical institution. The purpose of the Institute is the systematic study and research for the treatment of genetic and malignant diseases of childhood, as well as the establishment and operation of a bone marrow transplantation unit for sick children with hematological, immunological, and neoplastic diseases. The research laboratory studies genetic, developmental, metabolic, endocrinological, neurological, behavioral, and neoplastic diseases of childhood and adolescence, and assists in the invention of targeted treatment for patients, tailored to the specific disorders identified. We now know with solid evidence that humans, as well as their societies and cultures, have unique complexities in the known universe. Indeed, humans have a complex genome consisting of approximately 3 million bases, 20 thousand genes coding for proteins, 22 thousand genes expressing non-coding RNAs, 16 thousand pseudogenes, more than 25 million single nucleotide polymorphisms (snp's or snv's, indels), over 5000 copy number variants (cnv's) containing many millions of bases, as well as more than 20 million microsatellite elements. Human cells contain about 200 thousand transcripts (mRNA, ncRNA) and 200-260 thousand proteins. We have identified over 10 thousand mutations that cause disease, most of which are in protein-coding gene regions, while there are many more pathogenic mutations to be identified in non-coding regions dispersed throughout the former, unfortunately called "junk DNA." Above all this immense genomic complexity, we must add the epigenetic complexity, which is much greater. Regulatory changes in gene activity without changes in the DNA sequence, primarily as a result of chemical modifications to the DNA bases, such as methylations, or in neighboring chromatin, such as acetylations, are extremely important in developmental processes, such as embryonic and tissue differentiation and morphogenesis, differentiation and regeneration of somatic tissues, immune function, brain functions, and many other functions. Approximately 60% of gene promoters in humans have CpG islands, which are regions of DNA that can be methylated or demethylated, thereby affecting gene regulation. We expect that many "epimutations" related to traits or disease will be discovered in the coming years. The pinnacle of tissue complexity is the human brain, characterized by the process of plasticity, the ability of neurons to adaptively change their function. The complexity of the human organism and its ecosystem has dictated the new qualitative terms of Systems Biology and Systems Medicine. Precision Pediatrics concerns the very important developmental age of humans that begins from the gametic zygote and reaches adulthood. The aforementioned revelation of the complexity of the human organism has largely been based on findings from patients with mono-, oligo-, or polygenic alterations leading to physiological variations up to pathological conditions. Medicine, and especially Pediatrics, has benefited from deciphering biological complexity in humans regarding the understanding of pathophysiology, molecular and cellular diagnosis, as well as from rational studies that contributed to the invention of new targeted therapies specifically aimed at correcting disease disorders.