The Incontinentia Pigmenti Genetic Biobank: study design and cohort profile to facilitate research into a rare disease worldwide.

ABSTRACT: Incontinentia pigmenti (IP; OMIM#308300) is a rare genetic disease resulting in neuroectodermal defects, which can lead to disability. At present, there is neither definitive cure available nor are there any sufficiently reliable insights to predict the severity of the disease. We launched the Incontinentia Pigmenti Genetic Biobank (IPGB) project ( http://www.igb.cnr.it/ipgb ) in 2015 to establish a large-scale deposit of biological samples, to provide detailed clinical information about children diagnosed with IP and to facilitate research. We have built a cohort comprising samples of 381 clinically confirmed patients with IP and 633 healthy individuals recruited through IP patients' associations. The collection includes 269 trios, 83 duos, and 95 families with at least two affected membe

SUBMITTER: Fusco F 

PROVIDER: S-EPMC6777495 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature