TIGEM- Telethon Institute of Genetics and Medicine
I am Anna Borrelli, 4th-year PhD student in Luis J.V. Galietta's Lab at TIGEM- Telethon Institute of Genetics and Medicine, Pozzuoli, Naples (italy).
I obtained in 2017 my bachelor’s degree in Biotecnologie per La Salute at the University of Naples “Federico II” (110 cum laude), with a thesis entitled “Mechanisms of interaction between the tumoral microenvironment and the immune system in triple negative breast cancer”.
In 2020 I graduated in Medical Biotechnologies (110 cum laude) with a project focused on “Functional and molecular characterization of calcium signaling mechanisms controlling chloride secretion in the human airway epithelium”, in Luis Galietta’s Lab.
From November 2020, I Joined SEMM PhD program in Human Genetics in Luis Galietta’s Lab, where I currently work on functional screenings of chemical compounds to find pharmacological modulators of the nonsense-mediated mRNA decay (NMD) to rescue the basic defect in people with cystic fibrosis carrying nonsense-mutations (a.k.a. premature termination codons, PTC).
My main fields of research and expertise are molecular biology, pharmacology and electrophysiology studies of ion channels and transporters on immortalized and primary cell lines. My primary work is focused on drug discovery and pharmacological strategies to correct basic CFTR defects in Cystic Fibrosis, with a particular attention on rare mutations (class I and class II mutations, such as PTCs and N1303K-CFTR). I recently took interest also in functional characterization of ciliary beat frequency and drug-based correction of motile cilia disorders (primary ciliary dyskinesia, PCD) and alternative strategies to restore CFTR function by mRNA therapy.
Publications: 5 publications, h-index: 3
W31.3- Rescue of CFTR nonsense mutations is enhanced under inflammatory stimuli
Saturday, September 28, 2024
7:45 AM – 9:45 AM ET