Dr Alfredo Brusco
Researcher
Contacts
E-mail: alfredo.brusco@unito.it
Office: 0116334480 Fax: 0112366662
Dipartimento di Scienze Mediche - Laboratorio di Genetica medica
- Pathogenetic mechanisms in hereditary ataxias. Autosomal dominant SCA28: mitochondrial fission/fusion in the pathogenesis of disease. Missense mutations in elongase genes on cellular function and ER unfolded protein response: the SCA 38 pathogenesis. Identification of causative genes in mental retardation and neurodegenerative syndromes: linkage analyses, array-CGH, esome sequencing and cellular models.
- Position effects in genetic diseases: regulatory regions of disease genes. 4C technology.
- Towards therapeutic strategies in genetic disease: SINEup as translational regulators; allele specific siRNA to downregulate mutant genes in gain of function diseases; identification of drugs acting as expression regulation of lamin B1 in autosomal dominant leukodystrophy.