Mitochondrial Research: Recent Discovery about Rare Disease and Cancer
01 March 2018
Via G. Verdi, Latiano
Hosted by AIRM
AIRM (http://www.mitoairm.it) and Dr./PhD Ciro Leonardo Pierri will show the last results obtained by researchers of the University of Bari, Italy, in the field of the diagnosis of mitochondrial rare diseases (https://www.ncbi.nlm.nih.gov/pubmed/29211846). Whole Exome sequence analysis of a patient together with his parents (trio) allowed to diagnose a child waiting for a genetic diagnosis since 9 years. The child is affected by an multi-drug resistant epileptic encephalopathy with complex I deficiency. The knowlege of the gene causing the disease will allow biochemists to study at first in vitro on patient cells and, if it will work, in the next future also in vivo, a personalized treatment based on the supply of specific metabolites related to the impaired enzyme function for slowing-down neuro/muscular-degeneration. The urgency of doing is in acquiring new knowledge of disease genes and mechanisms. Knowledge is not enough, we must apply... Being willing is not enough, we must do... as Leonardo Da Vinci said.. And that is the reason for which it is necessary to fund scientific research....
AIRM e il Dr./PhD Ciro Leonardo Pierri mostreranno gli ultimi risultati ottenuti nel campo della diagnostica delle malattie mitocondriali rare presso i laboratori dell'università di Bari, Italia (https://www.ncbi.nlm.nih.gov/pubmed/29211846). Il sequenziamento del trio-esomico familiare ha permesso di fornire la diagnosi genetica ad un bambino che aspettava di averla da 9 anni. Il bambino è affetto da una encefalopatia epilettica multi-farmaco resistente con deficienza del complesso I.