Posted Friday October 28, 2016 by Ryan Riccitelli

Project Progress: NGS

Funded Research Projects

Next Generation Sequencing (NGS) Approach to Deepen into PHOX2B Mutations Mediated Pathogenesis and to Identify Drugs Able to Rescue Cellular and Molecular Defects in CCHS

One of the main obstacles preventing the development of a pharmacological strategy effective in counteracting the damaging effects of PHOX2B mutations in CCHS is the limited knowledge we have gained so far about the patho-physiology of PHOX2B: the genes it regulates, the companion protein factors it interacts with, the time when and the place where its action is indispensable, the pathways it is involved in, the gene networks it gives rise to are poorly known or still lacking information. Therefore, in the present pilot study…” learn more