QTL mapping:
One of the new interests in my research is linkage and association mapping of loci influencing the variability of quantitative traits (Quantitative Trait Loci, QTL) in human populations.
Population isolates:
Since when I joined my new institution, EURAC research, I became involved with the study of isolated populations. We are currently investigating the genetic structure of isolated populations from South Tyrol, Italy, with a focus on LD levels measured between seven STR markers on the X chromosome. Also, I am getting interested in the study of quantitative traits mapping in isolated populations.
Genetic epidemiology of colorectal and endometrial cancer (HNPCC):
Our work on HNPCC resulted in the AIFEG model (named after the "Associazione Italiana per lo studio della Familiarità ed Ereditarietà dei tumori Gastrointestinali", AIFEG) for predicting the probability of caryying mutations in MSH2 and MLH1. The model is somewhat similar to those already developed for BRCA1/2, but in addition we can exploit information on microsatellite instability which, in HNPCC, can help the discrimination between genetic and "sporadic" cases. You will find the AIFEG model and the relative documentation in the Downloads section.
Genetic epidemiology of breast and ovarian
cancer:
This is the main subject of my PhD research project, performed with the
supervision of Silvano Presciuttini
and in close collaboration with
Giovanni Parmigiani. Also, Joan
Bailey-Wilson always found some time to give me advice.
The research involved several steps: evaluation of the different expressivity
of BRCA1 and BRCA2, evaluation of models used for predicting the risk of
carrying a mutation in BRCA1 or BRCA2, and the estimation of breast and ovarian
cancer penetrances from genetic test results.
Geographic Distribution of HLA haplotypes:
Knowledge of HLA haplotypic frequencies is crucial for a rational planning of a
bone marrow donors strategy. In our study we showed that in Tuscany, HLA-A/B
haplotypic frequencies may vary even at a smaller geographic scale, and showed
how knowledge of geographic variation of haplotypic frequencies may be exploited
for a more efficient recruitment effort.
Photobiology:
In the early years of my career I was interested in photobiology. My research
was focused on a ciliated protozoan (Ophryoglena
flava), characterized by a peculiar motor pattern. In presence of a
unidirectional source of light (a simple lamp is OK, too!), O. flava
moves quickly towards it: this behavior is known as positive
phototaxis.
By means of behavioral studies we tried to define the photoreceptor involved in
the phototaxis. We also were interested in assessing the effect of exposure to
UV radiation on the efficiency of phototaxis.