UPO Book

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:

1. identification of causal genetic variants by whole genome sequencing

2. identification of susceptibility genetic variants

3. identification of disease- modifier varians

4. Functional analysis of the genetic variants identified by NGS by massive agnostic assays

5. 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

PubMed