Orphan diseases

Orphan diseases

The TLS Foundation has explicitly identified work in the field of orphan diseases among its institutional objectives, looking, in particular, to act as a link between basic research and industrial application in the biomedical and pharmaceutical field. More explicitly, TLS is trying to implement interventions that do not regard basic research but rather its first phase of follow-up, with the objective of making the scientific results achieved industrially developable.

These interventions, which are being implemented also thanks to collaboration with other regional, national and international agencies and institutions, are grouped under the general theme “orphan” and include:

• networking actions in the field of orphan diseases
• collection and dissemination of information and knowledge in this sector
• training of expert personnel in the sector
• specific action projects called Orphan-1, Orphan-2, etc.

TLS has proceeded in this field with three initiatives:

• aggregation of research groups working in the field
• Orphan-1 project, co-financing of research already underway at public Tuscan laboratories
• Orphan-2 project, management and coordination of development activities in the field of protein (enzyme) replacement therapy. Project funded by the Tuscany Region.

Own research activities
Since 2013 TLS has taken on a growing role in experimental design and the performance of applied research activities, making use of its technological platforms and the scientific expertise of its staff. In particular, it has set up its own research project for the development of a protein replacement therapy for the treatment of methylmalonic acidemia with type cblC homocystinuria.
The project has planned the development of a method of production of a recombinant human protein, MMACHC (r-h-MMACHC), and the subsequent demonstration of its use for the development of the replacement approach. The activity has involved, in addition to recognized experts in the disease at the national level, a number of public and private entities operating in Tuscany. Thanks to the results obtained with the Orphan-2 funding, in 2014 TLS was able to submit a grant request to Telethon as part of exploratory projects to continue the research. The project was among the 14 selected and funded out of the 112 presented.

TELETHON Project