期刊
EUROPEAN JOURNAL OF HUMAN GENETICS
卷 27, 期 10, 页码 1509-1518出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/s41431-019-0451-0
关键词
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资金
- Italian Incontinentia Pigmenti Association (IPASSI)
- CNR-DSB Progetto Bandiera InterOmics
- PON FERS [F/050011/02/X32]
- IPIF
- FIP
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 (httpl/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 members and represents an extensive dataset (200 cooperative medical institutes, 139 in Italy and 61 worldwide) that enables a comprehensive phenotyping. Joining the IPGB guarantees all participants access to the results including the genetic testing of IP and the long-term storage of the samples. The IPGB is the largest IP sample collection and one of the largest rare-disease-oriented collections in the world and will be open to requests for access to data by the national and international scientific community.
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