Cytogenomics and molecular genetics of genetic and genetically based diseases

 

Research activity group led by Palma Finelli is mainly focused on genetics of neurodevelopment and behavior, genetics of growth and reproduction.

The research team, working in the IAI Labs, specialized in Molecular Cytogenetics, Cytogenomics & Molecular Genetics, and is currently involved in the followings research projects:
-          genetics of Intellectual disability and Autism
-          identification of the genetic cause of syndromes associated with an abnormal karyotype;
-          search for novel genes and mechanisms underlying Cornelia de Lange syndrome;
-          investigating for novel genetic defects in Beckwith-Wiedemann and Silver-Russell syndromes by whole-genome approaches;
-          study of patients with clinical diagnosis of Smith-Magenis and Smith-Magenis-like syndrome without typical deletion in 17p11.2 by RAI1 gene molecular analysis and identification of new or known genes not yet associated with SMS or similar phenotypes;
-          study of molecular mechanisms responsible for severe primary ovarian insufficiency through the application of genome-wide high-throughput tools for identification of candidate genes and elucidation of their function

 

Characterizing instruments
-          Agilent array-CGH and ChIp on chip platform.
-          Illumina genotyping platform that allows to conduct high throughput genotyping studies covering 90% of the entire genome, gene expression studies and methylation studies to investigate epigenetic modifications. The Illumina platform is integrated with two Next Generation Sequencers.

 

Work address

Medical Cytogenetics and Molecular Genetics Laboratory,
Center of Biomedical Research and Technology, Istituto Auxologico Italiano,
via Zucchi 18, 20095 Cusano Milanino (MI).

 

Contacts

Palma Finelli (palma.finelli@unimi.it)
Ilaria Bestetti (ilaria.bestetti@unimi.it)
Chiara Castronovo (c.castronovo@auxologico.it)
Milena Crippa (m.crippa@auxologico.it)