Department of Medical Sciences, University of Ferrara Unit of Medical Genetics
The UNIFE has an international top position in research that is characterized by an interaction between fundamental research and patient care. The UNIFE has a long standing interest in NMDs. It hosts cutting edge genomics facilities.
The Medical Genetics Service consists of a Genetic Counselling
Outpatients service, in charge for prenatal, postnatal, presymptomatic and predictive counselling and molecular diagnosis for genetic disorders.
The service has a computing facility with a data bank (DNA and urine) with patient’s data (MATRIX) with more than 12000 DNAs from a large variety of genetic diseases. The Unit supports a psychological
service for predictive tests. The molecular diagnostics is carried out for several mendelian diseases including muscular dystrophies, cystic fibrosis, thalassemias, mental retardation, peripheral neuropathies, cardiomyopathies, deafness, and other rare diseases. Services of Cytogenetics, Immunogenetics and oligonucleotides synthesis are also present in the Unit .
Research in detail
One of the major research activities regards molecular bases of neuromuscular disorders, with special interest and major research effort is concentrated on dystrophinopathies, congenital myopathies as Collagen VI disorders and other hereditary neuromuscular pathologies. The UNIFE medical genetic research aims at identifying gene defects, functional studies both in vitro and in vivo systems to modulate mutation effects, using novel delivery system to release drugs. The UNIFE researchers have identified novel pre-clinical therapies for Duchenne muscular dystrophy and Collagen VI myopathies and also participate to innovative clinical trials for congenital myopathies and dystrophinopathies. Through the BIO-NMD project the Section is working on the identification of molecular biomarkers using an omics approach. The section is an excellence Center, with registered activity both in research and diagnostics at national level (Italian Institute of Health and Regione Emilia-Romagna , Italy).
Further details can be found here.
Role within Neuromics
UNIFE participates in workpackage 2 , gene discovery in neuromuscular diseases, on the disease-specific tasks of congenital myopathies and ataxias.
RARER (n. 6786-2012)
Gene discovery in rare muscular diseases
Grant to AF financed by the Regione Emilia Romagna (Italy)
Workpackage 6 - Diagnostic read outs for predicting disease modification
Workpackage 5 - Development and implementation of disease group overlapping NGS-based diagnostic panels
Workpackage 1 - Deep phenotype analysis in pre-symptomatic and symptomatic NDD/NMD patients
Workpackage 2 - Identification of novel disease genes in NDD/NMD patients
Workpackage 8 - Bioinformatic tools for diagnostic prediction