
Sofia Siffo
Sofia Siffo, Postdoctoral fellow

Current project
Studies of Type 2 Diabetes disease mechanisms in human islets
The aim of the project is to identify and functionally validate novel, targetable disease mechanisms of T2D in islet cells. We will use different technics, such as: scRNAseq
CRISPR-Cas9
Cell Culture
RT-PCR
Immunohistochemistry
Background
PhD Thesis: Impact of new genomic techniques applied to the characterization of Congenital Hypothyroidism by Dyshormonogenesis and Dysembryogenesis. Skills developed: Purification of genomic DNA and total RNA, PCR, RT-PCR, Cell Culture, Molecular Cloning, Protein identification by Western Blot. Development and analysis of NGS panel for thyroid genes. Segregation analysis of identified sequence variants and pathogenicity prediction through bioinformatic tools. 3D modeling of proteins. Family tree construction.