|
Description
|
Because of their low individual frequency, rare diseases (of genetic or non genetic origin) have historically been neglected by the profit-driven structures of the pharmaceutical industry in Western societies. Fortunately,, over the last few years there has been a degree of (gradually increasing) interest for the rare diseases. This has been due not only to humanitarian reasons, but also to socio-economical reasons. Indeed, although individually rare, collectively rare diseases put a major economic and organizational burden on the social health care systems.
There is therefore a need to conceive and implement a drug discovery process for the development of therapies of rare diseases. This goal appears now to have become amenable, as indicated by the facts that: a) a large body of knowledge has been accumulated over the last decades on the molecular defects underlying the genetic diseases and, b) powerful drug discovery technologies are now available to the pharmaceutical industry to exploit this knowledge towards the development of drugs. Thus, the time for a pharmacological approach to genetic diseases appears to be ripe.
An additional important element of interest in developing treatments for rare diseases is that, at least in some cases, it might lead to the discovery of drug targets and of drugs that might be relevant also in the therapy of multifactorial common pathologies. This project might therefore provide a facilitated avenue for the discovery of innovative pharmacological tools.
Based on this overall rationale, some research groups in the CNR and the TIGEM, and the pharmaceutical companies involved in this project have teamed up to promote a drug-discovery program for the therapy of rare disease (mostly of genetic origin), by integrating the experience of the companies on the process of drug research with strong scientific expertise in basic research, mainly in the field of molecular and cellular biology.
The project is organized according to classical schemes of the drug discovery. The diseases selected to enter the drug-discovery pipeline include type I diabetes and pathologies of the urinary tract (non genetic diseases), as well as a number of genetic diseases. The latter include cystic fibrosis, some lysosomal storage diseases, some renal syndromes such as the Lowe disease and a ciliopathy, and the immune deficiency syndrome ADA SCID. All of these are rare pathologies with high social impact on which the participating groups have already acquired strong expertise.
The research will follow two main lines, depending on the type of approach needed for the study of the above diseases. For some of them, the scientific literature supports very clearly the choice of a defined molecular target for the screening of active molecules. Here, the preferred approach will be the classical drug discovery scheme used in the pharmacological industry. For some other diseases, for which a strong rationale for the choice of defined molecular targets is still lacking, the search for active molecules will be based on cell based phenotypic screenings using automated high content microscopy (High Content Screening). This is an approach that can lead directly to the identification of molecules active in the pathologies of interest, and/or to the identification of molecular targets for further high-throughput screening.
As noted, however, this project aims to go beyond rare diseases, since some of the targets and small molecules identified for these might be found to be relevant also for common multifactorial pathologies. Thus, another objective is the identification and the use of such targets/molecules to develop new therapies for other diseases characterized by high medical need.
In summary, the project aims to generate a drug discovery platform for the development of innovative leads with therapeutic potential for rare and possibly non rare human pathologies with high medical need.
|
|
Distribution
|
Advancement of distribution in %
|
Total amount distributed
7,120,970.00 euro
NOP R&C distributed amount
6,251,932.79 euro
PAC distributed amount
0.00 euro
Amount distributed with other funds
869,037.21 euro
|
Storify
twitter
YouTube