CORRADO Lucia
Research Activity
Brief Research Description
Analysis of genetic factors involved in neurodegenerative diseases
SPINOCEREBELLAR ATAXIAS (SCA), PARKINSON’S SYNDROMES (PS), FRONTOTEMPORAL DEMENTIA (FTD), AMYOTROPHIC LATERAL SCLEROSIS.
Neurodegenerative diseases are a spectrum of conditions characterized by the gradual deterioration of neurons in the central and peripheral nervous system and they are characterized by a genetic etiology either in the familial and the sporadic forms. Although NGS identified many new genetic causes, a missing heritability remains. Aims of my research activities are:
identification of causal genetic variants by whole genome sequencing
identification of susceptibility genetic variants
identification of disease- modifier varians
Functional analysis of the genetic variants identified by NGS by massive agnostic assays
investigation of the role of tandem repeat polymorphisms in the pathogenesis of these neurodegenerative disorders using a genome-wide approach and whole genome sequencing.
Keywords
Amyotrophic lateral sclerosis, tandem repeats, whole genome sequencing, massive functional assays, neurodegenerative diseases