We have got a very important result in the scientific research
The Light Scanner is critical for the identification of mutations of the genes of the respiratory chains. Giuseppe’s mutations have been identified with this instrument in Germany and, currently, this is not available in any Hospital or University in Italy.
We have therefore decided to purchase this instrument and give it to the group led by Prof. Massimo Zeviani, Carlo Besta Hospital, Milan.
Before the payment, the group of Zeviani has tested the instrument for its proper functioning. The test is positive and it seems that the instrument’s performance is even higher than that initially indicated. We now know that that instrument will be of crucial importance for the identification of the genetic disorders of the mitochondrial respiratory chain and for all those children that are affected by these disease (in particular those due to Complex I deficiency).
The use of the Light Scanner will help identifying the mutations in an increasing number of children with known biochemical alterations.
The instrument will be purchased thanks to the money collected during specific events organized by the Foundations such as those present in the section “eventi”.
At present, In Italy too many children affected by mitochondrial disorders die before any genetic mutation is identified. Now that the Light Scanner is available in Milan, no child will have to wait for his/her mutation to be identified. Please note that each Hospital has to strictly follow the rules necessary to properly collect the samples to be sent to the Carlo Besta Hospital for analysis. This is fundamental for a correct evaluation of the samples by the Hospital in Milan.
This is a real contribution to help all those children, like Giuseppe, that need to know as soon as possible their genetic defect. All those children that hopefully will shortly benefit of experimental therapies that will help them the fight the disease, waiting for more efficacious drugs, or definitive treatments which must not be the death.
We do want to thank and express out gratitude to those that will support our Foundation and help us to promote the scientific research in this field.
Fondazione Giuseppe Tomasello Onlus
Currently, the Light Scanner is operating at the Carlo Besta Hospital in Milan.