Laboratory of Applied Biology to reproduction and development

In our lab, we identify and characterize the genetic mutations associated with human disorders. The preliminary identification is conducted by means of genome wide (GW) high throughput tools in collaboration with other groups. The further characterization is conducted with in vitro assays and by using the animal model zebrafish (Danio rerio). The main interests of the laboratory are reproduction and development.

 Premature Ovarian Failure (POF) (Prof. Anna Marozzi)

Cessation of female reproductive function, at menopause, is associated with increased risk of age-related diseases including cardiovascular disease, osteoarthritis and osteoporosis. Premature Ovarian Failure (POF) has implications for women’s well-being as well as for fertility with an increasing clinical, social and economic impact. POF has an incidence of 1 in 10,000 women by age 20; 1 in 1,000 women by age 30; 1 in 100 women by age 40. The POF might be caused by different factors such as genetic factors, however, the majority of POF cases is still without explanation. The aim of the project is the study of molecular mechanisms responsible for POF through application of genome wide (GW) high throughput tools for identification of genes and risk-variants and elucidation of their function. Taking advantage of the technological advancements in genome research, such as the dense arrays to identify Single Nucleotide Polymorphisms (SNP), copy number (CNV) and gene expression variation and Next Generation Sequencing (NGS), we identify POF candidate genes. These genetic factors are further validated in vitro and in vivo in the zebrafish model and will be caused as a whole to develop a first generation diagnostic test for ovarian reserve. Indeed, a diagnosis of POF is nowadays possible only when amenorrhea is already established and the ovarian reserve is likely exhausted.

Functional analysis of human genes in zebrafish (Danio rerio)(Prof. Anna Pistocchi)

Zebrafish tissues and organs of zebrafish are morphologically and functionally similar to those in humans. The use of this model system, which develops externally and in a short period of time, allows to study evolutionarily conserved genetic mechanisms, relevant for human pathologies and their care. In zebrafish it is possible to interfere specifically with the function of a gene by injecting an antisense oligomer called morpholino, or to generate stable mutants using the CRISPr/ Cas9 technique. In our laboratory we study the function of genes involved in the onset of diseases such as acute myeloid leukemia, cystic fibrosis, neurodegeneration and skeletal muscle degeneration such as Duchenne Muscular Dystrophy. Zebrafish embryos with altered gene function are compared to control embryos by transcriptomic and proteomic studies, to identify altered mechanisms following gene de-regulation. Furthermore, in zebrafish it is possible to carry out large-scale pharmacological treatments to recover the altered phenotype, allowing the identification of new potential drugs for a specific pathology. The laboratory also has collaborations with other research groups as the zebrafish model is very versatile for functional studies in vivo. Prof. Pistocchi's laboratory has access to the zebrafish facility at the Department of Biosciences, University of Milan.

 

Group

Prof. Anna Marozzi anna.marozzi@unimi.it
Dr. Marco Spreafico PhD marco.spreafico@unimi.it
Dr. Alex Pezzotta PhD alex.pezzotta@unimi.it
Dr. Marco Cafora marco.cafora@unimi.it

 

Contacts

Prof. Anna Marozzi
via Fratelli Cervi 93, 20090, Segrate, MI
tel: +390250330452
anna.marozzi@unimi.it

 

Prof. Anna Pistocchi
via Fratelli Cervi 93, 20090, Segrate, MI
tel. +390250330442
anna.pistocchi@unimi.it