Annual report

Research activity report for PhD students enrolled in the 39th cycle:
The PhD students carried out their projects consistently with the research topic agreed with the tutor, obtaining good results as demonstrated by the reports made during the year transfer organized at the Carlo Conti room, V Medical Clinic, Policlinico Umberto I - Sapienza University of Rome on 10.10.2024
The research lines of the PhD students are reported below:
MARIA PIA CICCONE
“Molecular bases of cardiomyopathies with genetic etiology”
ELENA D’ALIBERTI
“Analysis of cytogenetic and molecular profiles detectable in a contingent screening approach”
FLAVIA DI FEO
“Novel insight into the regulation of PRIMPOL repriming pathway
NICCOLO’ DI GIOSAFATTE
“New approaches for the molecular characterization of Sex Development Defects (DSD): clinical and molecular reassessment of 10 years of monocentric diagnostic/care activity in a dedicated clinical and laboratory pathway”
DANIELE GUADAGNOLO
"Molecular characterization of primary immunodeficiencies"
GIORGIA MAROZZI
"Investigating the effect of RAD52 deregulation on pathways leading to single-stranded DNA gap accumulation"
ROBERTA MARRONE
"The role of microRNA methylation in pancreatic adenocarcinoma"
SARA SORRENTI
"Genetic diagnosis of early cystic hygroma in singleton and twin pregnancies"
MICHELA TOZZI
"Elucidating the pro-carcinogenic mechanisms of E.coli CNF1 toxin"
ANDREA VILLANI
"Studying mRNA folding dynamics through embedding for interpreting the role of synonymous variants"

Research activity report for PhD students enrolled in the 38th cycle:
The PhD students carried out their projects consistently with the research topic agreed with the tutor, obtaining good results as demonstrated by the reports made during the year transfer organized at the Carlo Conti room, V Medical Clinic, Policlinico Umberto I - Sapienza University of Rome on 10.10.2024
The research lines of the PhD students are reported below:
PALLUCCI DAVIDE
“The Immunoregulatory role of platelets in adaptive and innate immunity: from vaccine biology to colitis”
NOEMI SCAFA
"New insights into Inflammatory Bowel Disease-associated fibrosis"
CAROLINA FIGLIOLI
" Exploring the endonuclease MUS81 as a new factor impacting on cancer chemosensitivity”
MANUEL MANGONI
“A Machine-Learning Framework to infer Pathogenic Patterns in Dynamic Networks of Genetic Diseases”
FRANCESCA TARANI
“Study of the exome in patients pediatric patients with chronic inflammatory bowel disease with an aggressive phenotype
GIUSY RUSSO
"S100a4 protein: a marker of disease severity in pediatric eosinophilic esophagitis"
GIOVANNI IAQUINTA
"Molecular pathways and genetic complexity in myelofibrosis: differences between primary and secondary forms"
MCDONALD-MCGINN DONNA MARIE: the doctoral student did not make the change of year as she suspended her doctorate for health reasons from October 1, 2024, she will resume her activity on April 1, 2025.

Research activity report for PhD students enrolled in the 37th cycle:
The PhD students carried out their projects consistently with the research topic agreed with the tutor, obtaining good results as demonstrated by the reports made during the admission to the final exam which took place on 16 December 2024, at the Aula Magna of the CSS Mendel Institute. The research lines of the PhD students are listed below:
FRANCESCO GRECO
“ARID1A supports the expression of YAP target genes by facilitating the binding of TEAD on enhancers in epithelial breast cells"- funded by Istituto Pasteur Italia - Fondazione Cenci Bolognetti
FRANCESCO MARROCCO
“The RNA binding protein PCBP2 is a regulator of miRNAs partition between cell and extracellular vesicles”- funded with AIRC funds
NICCOLO’ LIORNI
“A multi-omics perspective on Huntington's Disease".
LUIZA DINIZ FERREIRA BORGES
“Epigenetic Modulation of Amyloid β Clearance: Insights from LRP1 and PICALM”
GIOIA MASTROMORO
“Molecular mechanisms and phenotypic correlations of rare forms of Neurofibromatosis type 1: mosaicisms, partial phenotypes and phenocopies"- funded with funds from the following projects "Advanced Molecular Diagnostics in fetal fluid collections" protocol no.:AR1221816BEE7A68 and "Mosaic Neurofibromatosis type 1: can deep-sequencing of genomic DNA avoid biopsy to obtain a molecular diagnosis?" protocol no.: AR123188B17AEBF7

PhD students Martina Bartolone and Alessia Fiore will present their reports for admission to the final exam in May 2025 for freezing and extension request, respectively.
Their research lines are:
ALESSIA FIORE
“In vitro and in vivo analysis of the carcinogenic potential of the CNF1 toxin” IARC-ISS Memorandum of understanding project
MARTINA BARTOLONE
“Congenital heart defects due to septation anomalies: analysis of characteristics and genetic correlation"

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