Omics Sciences
Genomics for the diagnosis of human pathologies
The scientific interest of the group is focused on the study of different genetic human pathologies. The unit applies a genomic approach to investigate the genetics of several inherited diseases, such as heart, kidney, lung, neurological disorders and inherited cancers.
Research activity
Group research is based on molecular methods; in particular, massive parallel sequencing for whole exome or targeted resequencing are applied for detection of new disease genes and pathogenic variants. Collection and interpretation of the genetic data are also relevant for the correlation to the clinical features and phenotype stratification, contributing to the precision medicine.
Additional research lines in the laboratory focus on the development of circulating biomarkers for different pathologies. In particular, efforts are aimed at:
Additional research lines in the laboratory focus on the development of circulating biomarkers for different pathologies. In particular, efforts are aimed at:
- developing ultrasensitive assays for circulating nucleic acids biomarkers of diseases like cardiomyopathies, pre-eclampsia, type 1 diabetes, and a variety of cancers like those of the breast, colon and pancreas (liquid biopsy);
- discovery of new candidate antigens and development of ultrasensitive assays for detection of autoantibody biomarkers of organ specific autoimmunity with a particular focus on type 1 diabetes and neurological immune mediated disorders.
Pozzi L, Valenza F, Mosca L, Dal Mas A, Domi T, Romano A, Tarlarini C, Falzone YM, Tremolizzo L, Sorarù G, Cerri F, Ferraro PM, Basaia S, Agosta F, Fazio R, Comola M, Comi G, Ferrari M, Quattrini A, Lunetta C, Penco S, Bonanomi D, Carrera P, Riva N. TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation. J Neurol Neurosurg Psychiatry. 2017 Oct;88(10):869-875.
Whale AS, Devonshire AS, Karlin-Neumann G, Regan J, Javier L, Cowen S, Fernandez-Gonzalez A, Jones GM, Redshaw N, Beck J, Berger AW, Combaret V, Dahl Kjersgaard N, Davis L, Fina F, Forshew T, Fredslund Andersen R, Galbiati S, González Hernández Á, Haynes CA, Janku F, Lacave R, Lee J, Mistry V, Pender A, Pradines A, Proudhon C, Saal LH, Stieglitz E, Ulrich B, Foy CA, Parkes H, Tzonev S, Huggett JF. International Interlaboratory Digital PCR Study Demonstrating High Reproducibility for the Measurement of a Rare Sequence Variant. Anal Chem. 2017 Feb 7;89(3):1724-1733.
Orellana DI, Santambrogio P, Rubio A, Yekhlef L, Cancellieri C, Dusi S, Giannelli SG, Venco P, Mazzara PG, Cozzi A, Ferrari M, Garavaglia B, Taverna S, Tiranti V, Broccoli V, Levi S. Coenzyme A corrects pathological defects in human neurons of PANK2-associated neurodegeneration. EMBO Mol Med. 2016 Oct 4;8(10):1197-1211.
Carrera P, Calzavara S, Magistroni R, den Dunnen JT, Rigo F, Stenirri S, Testa F, Messa P, Cerutti R, Scolari F, Izzi C, Edefonti A, Negrisolo S, Benetti E, Alibrandi MT, Manunta P, Boletta A, Ferrari M. Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD). Sci Rep. 2016 Aug 8;6:30850.
Galbiati S, Monguzzi A, Damin F, Soriani N, Passiu M, Castellani C, Natacci F, Curcio C, Seia M, Lalatta F, Chiari M, Ferrari M, Cremonesi L. COLD-PCR and microarray: two independent highly sensitive approaches allowing the identification of fetal paternally inherited mutations in maternal plasma. J Med Genet. 2016 Jul;53(7):481-7.
Brambati C, Galbiati S, Xue E, Toffalori C, Crucitti L, Greco R, Sala E, Crippa A, Chiesa L, Soriani N, Mazzi B, Tresoldi C, Lupo Stanghellini MT, Peccatori J, Carrabba MG, Bernardi M, Ferrari M, Lampasona V, Ciceri F, Vago L. Droplet digital PCR for DNMT3A and IDH1/2 mutations to improve early detection of acute myeloid leukemia relapse after allogeneic hematopoietic stem cell transplantation. Haematologica 2016 Apr; 101(4): e157–e161.
Damin F, Galbiati S, Ferrari M, Chiari M. DNA microarray-based solid-phased PCR on copoly (DMA-NSA-MAPS) silicon coated slides: An example of relevant clinical application. Biosensors and bioelectronics 2015 Dec; 78:367-373.
Di Resta C, Pietrelli A, Sala S, Della Bella P, De Bellis G, Ferrari M, Bordoni R, Benedetti S. High-throughput genetic characterization of a cohort of Brugada syndrome patients. Hum Mol Gen. 2015 Oct 15;24(20):5828-35.
Cangi MG, Biavasco R, Cavalli G, Grassini G, Dal-Cin E, Campochiaro C, Guglielmi B, Berti A, Lampasona V, von Deimling A, Sabbadini MG, Ferrarini M, Doglioni C, Dagna L. BRAFV600E-mutation is invariably present and associated to oncogene-induced senescence in Erdheim-Chester disease. Ann Rheum Dis. 2015 Aug;74(8):1596-602.
Agosta F, Scarlato M, Spinelli EG, Canu E, Benedetti S, Bassi MT, Casali C, Sessa M, Copetti M, Pagani E, Comi G, Ferrari M, Falini A, Filippi M. Hereditary Spastic Paraplegia: Beyond Clinical Phenotypes toward a Unified Pattern of Central Nervous System Damage. Radiology 2015 Jul;276(1):207-18.
