Andres D Klein
Telethon Institute of Genetics and Medicine, Italy
Posters & Accepted Abstracts: J Tissue Sci Eng
Understanding phenotypic variability in rare genetic diseases, such as Gaucher disease (GD), is challenging because it is hard to recruit large cohorts of patients with different symptoms to perform association studies. To overcome this problem GD was chemically induced in 15 inbred mouse strains because they SNPs profile is known, followed by GWAS. GDinduced strains mimicked the divergent phenotypes observed in patients, which range from neuropathic disease with short lifespans to others with no evident CNS involvement and longer survival times. GWA analysis identified a small collection of candidate loci underlying the variable strain phenotypes, which successfully allowed to predict the severity of the disease in other strains upon GD induction and to identify a novel therapy for the neuropathic forms of GD.
Journal of Tissue Science and Engineering received 715 citations as per Google Scholar report