Genomic Reanalysis of a Pan-European Rare-Disease Resource Yields New Diagnoses

Medicine, Life Sciences, Genetics,
rare diseases   genomic reanalysis   European collaboration   diagnostic yield   genetic variants  

European Genomic Reanalysis of Rare Diseases: New Diagnoses and Future Blueprint Academic Background Rare diseases are defined as conditions affecting a very small proportion of the population, with the European Union setting the threshold at fewer than 50 individuals per 100,000. Despite the vast diversity of rare diseases (over 6,000 types), more...

Multi-Omic Mapping of Human Pancreatic Islet Endoplasmic Reticulum and Cytokine Stress Responses Provides Genetic Insights into Type 2 Diabetes

Medicine, Endocrinology, Life Sciences, Cell Biology, Biochemistry, Genetics,
pancreatic islets   endoplasmic reticulum stress   cytokines   type 2 diabetes   genetic variants  

Background and Research Motivation Globally, Type 2 Diabetes (T2D) is a common metabolic disease characterized by the combined effects of genetic and environmental factors leading to dysfunction and/or cell death of pancreatic β-cells, resulting in insufficient insulin secretion. Based on findings from Genome-Wide Association Studies (GWAS), over 6...