Fifteen Years of the J Project

Excerpt

Over the past 15 years, remarkable progress has been made of clinical care, laboratory diagnosis, and in particular, genetics in the field of primary immunodeficiency diseases (PIDs) [1]. This progress resulted mostly from a better understanding of the relationship between genotype and phenotype variability in patients with “normal” immunity and in those with increased susceptibility to infection, inflammatory and autoimmune disorders, allergy, and cancer [2]. The wondrous unraveling of the human genome sequence by virtue of the human genome project from 1991 to 2004, and later on by other international collaborative projects like HapMap, 1000 genome project, and ENCODE, has opened the way to the rapid development of the field [3]. Introduction of new generation sequencing (NGS), whole genome sequencing (WGS), and whole exome sequencing (WES) in 2010 revolutionized the diagnosis and research of PIDs leading to the discovery of hundreds of novel inborn errors of immunity [4]. Progress in basic sciences usually precipitates an increased activity of professional education and emerging of new programs like the J Project ambitious physician education and clinical research collaboration platform focusing primarily on Eastern and Central Europe (ECE) [5]. …