Sofia Manzo

I am a 24-year-old from Rome, Italy, with a strong passion for science. I graduated from the Agro-Industrial Biotechnology program at La Sapienza University and recently completed my degree in Medical Biotechnology with top marks, earning a special mention for my thesis on ASO-based treatments in an ALS mouse model.
During my studies, I interned at the Morphogenesis and Tissue Engineering Unit, where I gained experience in histological and molecular analyses. My research focused on evaluating the potential of systemic injections of Tofersen, an antisense oligonucleotide (ASO) targeting mutated SOD1 mRNA, in providing therapeutic benefits for Amyotrophic Lateral Sclerosis (ALS).

I further expanded my knowledge by attending a Summer School in Bioinformatics at the University of Tübingen, Germany. After graduating, I completed an Erasmus Traineeship at LAGENBIO-Laboratorio de Génetica Bioquimica at the Universidad de Zaragoza, where I worked on developing diagnostic and prognostic biomarkers for Alzheimer's disease (AD). My focus was on studying non-coding RNAs, including lncRNA and circRNAs, and validating these markers in samples from patients and healthy controls.
I am thrilled to be part of ProgRET because it offers an opportunity to engage in groundbreaking research on inherited retinal diseases using innovative methodologies and advanced techniques.
I am eager to contribute my passion and dedication to scientific research. I believe that curiosity, combined with passion, resilience and creative thinking can make a real difference. The chance to push my boundaries, explore new cultures and experience diverse laboratory environments is essential for my growth and advancement.

Impact of ageing on 3D genome architecture in adIRD model in killifish, an aquatic animal model

Age is a critical factor for the onset of visual defects in most common IRD, including autosomal dominant IRD (adIRD). Although it is increasingly acknowledged that complex structural variants and non-coding defects play a role in the progression of IRD, the impact of aging on the regulatory landscape of IRD-associated genes has not been studied yet. The PhD student (DC1) will take advantage of unique features of the short-lived (<6 months) turquoise killifish (Nothobranchius furzeri) to investigate chromatin architecture and cis-regulatory maps in aging retinas. To this end, DC1 will use a combination of conformation capture methods: Hi-C (for global chromatin architecture) and HiChIP for H3K4me3 (that mark active promoters’ interactions); in combination with chromium single-cell multi-omics (scRNA-seq + scATAC-seq) to interrogate the transcriptome and epigenome simultaneously in retinas from aged animals. In parallel, DC1 will develop animal models for adIRD in killifish, either by targeting disease genes [e.g. by establishing a transgenic line] or by mimicking structural or non-coding human variants in killifish [i.e. by CRISPR-Cas9 targeting of specific cis-regulatory elements or CTCF loops]. Chromatin architecture and cis-regulatory maps will be then examined in the disease models generated to identify regulatory modules potentially involved in aging and disease progression. The 3D topology in killifish will be compared with the 3D topology generated in human retina (by DC5).