Etiology, early detection and treatment of diseases in childhood and adolescence

The research program exploits synergies deriving form close collaboration among various clinical pediatric subspecialties with cutting-edge laboratory and imaging technologies with a clear focus on early detection and diagnosis of inborn and acquired diseases, and development of improved and/or new diagnostic and treatment approaches. The main clinical subspecialties include: neonatology, newborn screening, inborn errors of metabolism, metabolic disorders, diabetes, gastroenterology, pediatric oncology, pediatric infectious diseases, pedo-psychiatry, genetic and genomics. Specific hypotheses focus on individual diseases, using common methods for their investigation: biochemical analyses with tandem-mass spectrometry, immunological analyses with flow-cytometers, imaging with US and MRI, genetic and genomic analyses by means of next generation sequencing, nano-pore sequencing, expression analyses, and methylation analyses. Special attention is dedicated to the development of new diagnostic approaches, particularly in the field of inborn errors and oncology, along with the development of new strategies for the neonatal screening program as a fast increasing number of inborn diseases become treatable, also with an increasing number of modern gene-therapies. Additionally, part of the program focuses on applicative basic research using plasma derived vesicles in various conditions and states. A special advantage of the proposed research program is its inherent possibility of the direct transfer from bench to bedside, enabled by the close bidirectional collaboration of clinical and laboratory specialists along with dedicated scientists.

Cumulatively the research group published over 50 SCI papers from the research programme. The research group had in the last 10 years over 21.000 citations, with an h-index of 68. Most prominent results were transferred into clinical rouitne, notably the universal screening and genetic diagnostics of familiar hypercholesterolemia, the expanded neonatal screening and novelation of the international guidelines for diabetes care. International impact of results is demonstrated by citations in the first year after publication, in established international research collaborations and in awards to our researchers. The extension of the programme proposes top-notch research in 9 specific fields in paeditrics using cutting-edge technologies, immaging, and laboratory techniques.

Health of pediatric and adolescent populations is considered as an absolute priority in modern developed societies. Basic and clinical research of the etiology and early detection of severe chronic diseases of childhood and adolescence with continuous transfer of research results into clinical practice represents an optimal model of translational research in biomedicine. The results from the research program were recently implemented into routine clinical practice for the entire pediatric population in Slovenia, and importantly influenced the development of new international clinical guidelines for major chronic diseases.