Research

RESEARCH ON RARE DISEASES FACES SEVERAL MAJOR BARRIERS:

• Scientific obstacles: the small number of patients often does not allow to scientifically validate the results of the research work, which prevents the publication of articles that could mobilize the attention and interest of the research community;
• Financial barriers: National public funding agencies are not proactive in supporting research because of the lack of expertise of international project assessment boards and of the limited number of scientific publications by researchers requesting funding.
• Commercial obstacles: these diseases affecting a very limited number of people, are often neglected by large pharmaceutical companies that are reticent to invest resources in the development of medicines.

Research on rare and orphan diseases is of considerable importance as it can serve as a model for more common diseases and help develop effective drugs on a larger scale.

As has been seen in the case of leukemia, when a large pharmaceutical company developed a drug designed at the base to cure a rare pediatric form of leukemia that was resistant to the drugs available at the time on the market. This drug then revealed to be effective at fighting off all forms of leukemia.

In addition, in recent years, some start-ups and companies specialized in the development of drugs for rare diseases, and their business model  proved to be effective.

In order to meet the challenge of research, however, it is necessary for specialists to exchange best practices and use collaborative models and that the largest number of patients participate in research. There is a need to strengthening the partnerships between the academic world and the industry to obtain new diagnostic and therapeutic tools.