Supporting Rare Disease Research with BeHeard 2017
Type
Blog Post
Published
July 20, 2017, 2:30 p.m.
...muscular atrophy, a disease in which disruption of the smn1 gene results in the degeneration of spinal cord ...19,000 live births (1).
While disruption of the smn1 gene is known to cause spinal muscular atrophy, ...plans on using C. elegans as a model to identify SMN1 interacting partners and perform whole animal screens...molecules that block the neurodegenerative effects of smn1 disruption.
As part of his work in C. elegans, Dr...Schiavi will use Addgene plasmids to characterize smn1 interactions with other genes. He will use fluorescent...concrete understanding of the molecular biology behind SMN1 and its interaction partners, Dr. Di Schiavi will...Besta in Milan to test small molecules targeting SMN1 and its partners in mouse cell lines. Dr. Di Schiavi...