Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant

Conclusion:
Our work is significant not only because it sheds new light on the pathophysiology of EDS for the affected family and the field at large, but also because it demonstrates the utility of unbiased large-scale clinical recruitment in deciphering the genetic etiology of rare mendelian diseases. With unbiased large-scale clinical recruitment we strive to sequence as many rare mendelian diseases as possible, and this work in EDS serves as a successful proof of concept to that effect.

Source: Epidemiologic Perspectives and Innovations - February 16, 2016 Category: Epidemiology Authors: Akshatha DesaiJohn ConnollyMichael MarchCuiping HouRosetta ChiavacciCecilia KimGholson LyonDexter HadleyHakon Hakonarson Source Type: research