Small, submicroscopic, genomic deletions and duplications (1 kb to 10 Mb) constitute up to 15% of all mutations underlying human monogenic diseases. Novel genomic technologies such as microarray-based comparative genomic hybridization (array CGH) allow the mapping of genomic copy number alterations at this submicroscopic level, thereby directly linking disease phenotypes to gene dosage alterati...

E ver since the initial proposal to use polymorphic DNA markers to map genetic diseases,1 linkage analysis (also called “positional cloning”) has been used successfully to find the gene defects for hundreds of monogenic Mendelian traits.2 Because monogenic diseases can serve as important models for understanding pathogenesis, especially if they point to novel biochemical and physiological pathw...

E ver since the initial proposal to use polymorphic DNA markers to map genetic diseases,1 linkage analysis (also called “positional cloning”) has been used successfully to find the gene defects for hundreds of monogenic Mendelian traits.2 Because monogenic diseases can serve as important models for understanding pathogenesis, especially if they point to novel biochemical and physiological pathw...

Auto-inflammatory diseases are a rapidly moving field, where the description of new entities, the understanding of the pathogenesis and the treatment has shown important progress in the past years. This group of conditions include monogenic auto-inflammatory diseases, like FMF, CAPS, TRAPS and MKD, and non-monogenic autoinflammatory diseases, like PFAPA, SoJIA, CRMO, and Behçet. The most common...

The possibility to reprogram somatic human cells will greatly and deeply change genetic approach and allow the development of new tools to study genetics diseases. Indeed, our ability to study human genetic diseases suffers from the lack of valid in vitro models. The latter should (i) be originating from human primary cells, (ii) be able to self-renew for a long time and (iii) be able to differ...

Autoimmunity is a complex disease process that results from a breakdown in the ability of the immune system to discriminate self from non-self. One approach to unraveling how autoimmunity occurs is to study monogenic diseases, for which a single gene defect is responsible. Recent work on the monogenic autoimmune disease 'autoimmune polyglandular syndrome type 1' (APS1) and on the causal gene of...