Profile

I am Italian student currently conducting my Ph.D. in the Genomics Informatics group at University of Southampton.

I am part of a large and multidisciplinary team of the Southampton paediatric Inflammatory bowel disease research study. The team is composed of nurses, doctors, scientists and laboratory staff. We now have over 1000 people recruited in the study, including children and parents.

The aim of the study is to improve the diagnosis, treatment and long-term care for patients diagnosed with paediatric inflammatory bowel disease.

My Ph.D. focuses on the analysis of the gene mutations within the DNA of the children with this stomach condition.

DNA is a molecule of a shape of a twisted ladder. DNA acts as a blueprint or recipe for all living organism. The ladder is composed of four letters (A, G, T and C) that can be read like a book. Human DNA contains about 3 billion pairs of these bases. Each piece of information is carried on a different section of the DNA.

These sections are called genes.

Genes are found in the cells that make up our bodies but are so tiny that they are invisible without special microscopes. Changes within genes can occur (named mutations) and these changes can be either good, e.g resulting in different eyes colour, height or foot size, or can be bad which can cause disease and other problems. Every individual is different from each other and carries different and specific bad and good mutations.

I am really interested in identifying the specific mutations that causes the person disease. I am able to do so by simply taking a bit of the patient’s blood and extracting the genes out of it. I am  then able to read the genes by using a cutting edge technology called “next generation sequencing technology“ which allows to fully examine every mutations a person carries using a super powerful computer named Iridis. Every person carries approximately 25 000 mutations (that is a lot!) therefore the use of a supercomputer is really necessary!

Sitting behind my computer!

I get to work around 9/9:30 am and i start answering emails, work on most pressing project and meeting with my supervisor.

12:00 – 1:00pm: lunch

The rest of the day is usually the same as in the morning.

5:30/6:00 pm: leave for home

That’s pretty much it.

We have weekly group meetings and meetings for our entire Institute every few months.

As you might not be aware, many tasks take several hours to finish on the supercomputer so when multitasking I submit some jobs for one project and move to development for another.

There is always  time that includes reading papers, source code to better understand technologies changes and for CAKE!