December 4th, 2007
Firstly, we have been looking for the scientist able to find Giuseppe’s genetic defect. We made it and now we are looking to start with the project. It consists in identify the mutated gene and, then, to find a cure for those that are affect by this mutation.
January 16th, 2008
Thanks to the skill of the research unit directed by Prof. Massimo Zeviani at the Carlo Besta Hospital in Milan and to the ongoing collaboration with Prof. Holger Prokish, Institute of Human Genetic in Munchen, we eventually identified the genetic defect.
It consists in a double mutation c.1669C>T and c.1783A>G in the gene NDUFS1 coding for a subunit of the respiratory Complex I. Specifically, because of the mutation c.1669C>T, the amino acid arginine is substituted by a stop codon, and because of c.1783A>G a threonine is substituted by an alanine.
We therefore build a task force of the major experts in the field in order to find a cure for Giuseppe and the other children affected by the Complex I deficiency. The scientific group is currently designing a research project, and, as soon as we will receive it, it will be judge by the Scientific Board of the Foundation. If it will be approved, we will then inform you about the single progresses through our website.
March 15th, 2008
The research project has been approved by the scientific board.
The research has started with a task force made by scientists working at the Anna Meyer Children Hospital, Florence, Carlo Besta Hospital, Milan, Columbia University, New York. The research plan is as follows:
The Meyer Hospital will collect biopsies to be sent to the Besta Hospital. Here the specimens will be analyzed with the Light Scanner in order to identify the mutations. Once identified, the Meyer Hospital will send cells (fibroblasts) obtained from the patients to the Columbia University where the cells will be cultured, their bioenergetics characterized, end different compounds will be tested to identify active drugs. Once identified, the drugs will be sent to the Meyer Hospital in Florence and worldwide to test their effects on affected children.
This project is in progress and we are waiting for the results.
Note: Each Hospital that is interested in this project can contact the Meyer Hospital, Metabolic Department, and participate to the research or have the drugs once identified.
April 30th, 2008.
Because the drugs that will be identified will first be tested in cells and could be harmful to affected children, we have ordered a genetically modified mouse harbouring the genetic defect of Giuseppe, so that the drug will be first tested in the animal and, if safe, subsequently in the children.
August 31st, 2008
In order to further promote the project on drug identification, 2 PhD courses will be funded by the Foundation at the Department of Pharmacology of the University of Florence. The application is open the every young scientist who is interested in performing research on this subject and promoting the field.