Mendelian disorders are often caused by mutations in genes that are not lethal but induce functional distortions leading to diseases. Here we study the extent of gene duplicates that might compensate genes causing monogenic diseases. We provide evidence for pervasive functional redundancy of human monogenic disease genes (MDs) by duplicates by manifesting 1) genes involved in human genetic diso...

INTRODUCTION Interleukin-1 was the first cytokine identified and is a powerful inducer of fever and inflammation. The biologically active receptor for IL-1, shares signaling pathways with some pathogen recognition receptors, the Toll-like receptors (TLRs) which early on suggested an important role in innate immune function. DISCUSSION The discovery that some intracellular "danger receptors", ...

Non-invasive prenatal diagnosis of fetal chromosomal aneuploidies and monogenic diseases by analysing fetal DNA present in maternal plasma poses a challenging goal. In particular, the presence of background maternal DNA interferes with the analysis of fetal DNA. Using single molecule counting methods, including digital PCR and massively parallel sequencing, many of the former problems have been...

Understanding the effects of genetic variation on the phenotype of an individual is a major goal of biomedical research, especially for the development of diagnostics and effective therapeutic solutions. In this work, we describe the use of a recent knowledge discovery from database (KDD) approach using inductive logic programming (ILP) to automatically extract knowledge about human monogenic d...

Background: Auto-inflammatory diseases (AIDs) – a group of monogenic and polygenic nature, manifested by recurrent attacks systemic inflammation in the form fever, accompanied multi-system symptoms, which are based on pathology natural immunity absence autoantibodies markers infection. Objectives: to evaluate serum levels patients(pts) with AIDs (FMF, CAPS, TRAPS) AID-systemic Juvenile Arthriti...

Abstract Widespread use of the next-generation sequencing (NGS) technologies revealed that a significant percentage tumors in children develop as part monogenic hereditary diseases. Predisposition to development pediatric neoplasms is characteristic wide range conditions including tumor syndromes, primary immunodeficiencies, RASopathies, and phakomatoses. The mechanisms molecular pathogenesis a...