ESR4- Clonal isotyping of the B cell response in autoimmunity
After scientific high school diploma, I began my academic pathway with the Bachelor’s degree in biology at the University of Rome Tor Vergata during the academic year 2013/2014. During this course I was particularly fascinating by the molecular and cellular world and by the complexity of gene expression in Eukaryotes. I undertook a 6 months’ internship as undergraduate student on a project focused on a ribosomopathy called Diamond Blackfan Anaemia (DBA), working on protein extracts of patients’ lymphoblastoid cells. That was my very first laboratory experience which led to the decision to pursue the molecular biology branch.
I continued my studies with a Master’s degree in Genetics and Molecular biology at the University of Rome La Sapienza, completed in October 2019. During the course I developed a genuine interest in regulation of gene expression and how gene mutations can be responsible of the outbreak of human diseases such as cancer. I carried out my master project in the laboratory of Prof. Stefano Cacchione whose research focus is the role of the histone variant H3.3 in ALT positive tumour and the mapping of H3.3 containing nucleosomes on the human genome with particular attention at telomeric region. H3.3 is a histone variant enriched in active genes and in heterochromatic sequences (i.e. Telomeres) which roles in gene expression regulation are still under debate. In addition, some recurrent mutations of H3.3 genes have been found in severe ALT positive paediatric tumours. The aim of my project was to develop a novel strategy, which integrates CRISPR/CAS9 mediated genome editing with the new methods of next generation sequencing, to map the position of H3.3 on the human genome with base-pair resolution. The understanding of the position of nucleosomes containing H3.3 will better define which genes are altered by a deregulation of H3.3. This research project was in collaboration with the national cancer institute IRE of Rome, and this collaboration allowed me to work for several months in different locations during the internship.
Encouraged by this very positive research experience I realized that I want my professional life to revolve around research and an International PhD project would be the perfect occasion to expand my perspectives and gain more practical skills. Currently I am starting a PhD project at University Medical Centre in Amsterdam, location AMC, on a project focused on the study of genetic variations of the HLA complex and their correlation with autoimmune disease under the supervision of Prof.Dr.Niek de Vries.
Genetic variations in the HLA region are strongly associated with autoimmune disease, and molecules encoded in these region play a key role in the induction of the specific humoral and/or cellular autoimmunity observed in these pathologies. I will use high-throughput sequencing approaches to study the role of gene expression and gene splicing of HLA alleles in autoimmune diseases.
Outside the lab I am a very dynamic person, I like travel abroad, meet new cultures and have many friends all over the world. I like natural places and be surrounded by green doing hiking and long walks in mountain. Volunteering fills me with positive energy, I have done volunteer activities for several years as Scout leader. I also spend time in the gym, doing jogging and reading good books. I am also a Pizza fan and a coffee addicted !