The main focus of most of the projects I'm working to, is to find genes (or parts of the DNA) that regulate the variation of a particular trait (as blood pressure, for example) or disease. Why? The are many reasons:

1) for some diseases, as thalassemia or cystic fibrosis, we are able to predict if a newborn will be affected or not, and what's the probability for it, so that the baby can benefit from early diagnosis and treatment. This is called "newborn screening".

2) We all know that drugs have side-effects, as nausea or headache, and we know as well that not all of us will actually have a side-effect. The reason is that the DNA is different from person to person. Someone can have a specific "silent" mutation, it means that is not causing a disesase, but it may iincrease or decrease the production of a protein or enzyme. The abnormal amount of a protein can interact with drug's components, causing a side-effect.

3) finding genes that regulate traits or diseases can allow doctors and pharmaceutical companies to identify new therapies. For example, if we find that asma patients have a particular DNA sequence that do not produce enough amount of a protein, the drug for the therapy will then contain this protein, or a component able to stimulate its production.

My role is applying statistical models to understand genetic and experimental data. Below are a few examples were statistic is used:

1. What is the probability that a particular genetic variant present in 90 affect individuals out of 100, and in 50 healthy subject out of 100, is responsible for the disease ?

2. What is the probabilty that the generated data contain errors?

3. What is the probability that a genetic variant in chromosome 1 affects a gene on chromosome 2?

4. What is the probability that a genetic variant favor the grow of "good" bacteria in human gut?

you can have a look to my current and past projects listed on the left side of this page. Happy reading!

Dal 2016, mi occupo di studiare anche il ruolo del microbioma intestinale nell'insorgenza delle malattie cardiometaboliche.

Il microbioma intestinale e' l'insieme di batteri, funghi e virus che stanno nel nostro apparato digerente, e sono essenziali per la digestione dei cibi, trasformando le sostanze utili in energia per il corpo e identificando quelle da eliminare. Cambiamenti nel microbioma intestinale possono portare a squilibri del metabolismo, ed essere coinvolti quindi nell insorgenza di malattie cardiometaboliche, quali il diabete, l ipercolesterolemia e l aterosclerosi.

Queste ricerche, in collaborazione con l'university of Groningen (Olanda), hanno l'obiettivo di comprendere quali sono gli specifici batteri che regolano il metabolismo dell'uomo. La loro identificazione porterebbe ad un nuovo approccio alla medicina, dove la terapia potrebbe consistere in una semplice alterazione della dieta o assunzione di integratori.

Per capire al meglio il ruolo del microbioma intestinale, stiamo studiando oltre 7 mila individui di origine Olandese.

Alcuni dei lavori su questo argomento:

Kulirshikov 2021 - interazione del microbioma con il genoma umano

Sanna et al 2019 - ruolo del microbioma nel diabete mellito

Zhernakova et al 2018 - ruolo del microbioma nel metabolismo del colesterolo

Last Updated on Thursday, 11 March 2021 14:38