Claudio Caccia

Presentazione:

BIOLOGIST
SC Servizio di Medicina di Laboratorio - Genetica Medica e Neurogenetica
(italian version)

My academic training and research experience have provided me with a good background in molecular genetics and clinical biochemistry. From 1998 to 2001 I did my degree in biological sciences under the mentorship of Dr. Franco Taroni at Fondazione IRCCS Istituto Neurologico C. Besta. My research was focused on the molecular study of the EMX2 gene in schizencephalic patients. As a graduate, I continued in the study of genes involved in the etiopathogenesis of some malformations of cortical development (schizencephaly, nodular heterotopias, subcortical band heterotopy and lissencephalies).

Research Activity

Since 2011 I have partially changed my research discipline, moving on to analytical chemistry. In this field, thanks to the collaboration with Dr. Valerio Leoni, I began to study the cholesterol metabolism in neurodegenerative diseases by mass spectrometric methods. In particular, we focused our attention on Huntington's disease (HD), analyzing cholesterol, the intermediates of cholesterol synthesis, 24-hydroxycholesterol (biomarker of cholesterol catabolism in the central nervous system) and other oxysterols in different substrates, such as tissues and biological fluids from HD mouse models and plasma from patients. The results of these researches led us to publish several scientific articles, in the writing of which I actively participated. On this basis we have introduced the dosage of diagnostic biomarkers of other pathologies caused by cholesterol metabolism errors (cerebrotendinous xanthomatosis, spastic paraplegia type 5 and Niemann-Pick type C disease). Furthermore, since 2014, I have been dealing with the analysis of urinary organic acids and plasma medium and long chain fatty acids in the study and diagnosis of some inborn errors of metabolism and β-oxidation of fatty acids respectively.

Topics of interest