Rare disease day: With research, possibilities are limitless

Also this year Rare Disease Day takes place on the last day of February. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.

Since Rare Disease Day was first launched by EURORDIS in 2008, thousands of events have taken place throughout the world reaching hundreds of thousands of people and resulting in a great deal of media coverage.

Over 80 countries around the world joined this campaign last year, and surely enough even more countries and cities will join the event, which will be held in February 28.

A disease or disorder is defined as rare in Europe when it affects fewer than one in 2,000. In this case, patients’ lives depends only on research. Investment in medical research provides immense hope and some comfort to the rare disease patient living with a currently incurable diagnosis.

Particularly, 80% of rare diseases have identified genetic origin. One again the key to make research improve is genetics.

The surprising thing is that rare-disease genetic research is able to be useful also for more-common disease research. So it is doubly worth investing in genetic research.

Analyzing deeper the field, it is ascertained that rare-disease research will work not only with these kinds of diseases, but also with more-common disease. The genetic research methods that rare-disease researches employ are gaining traction for studies of more-widespread diseases. Many common conditions are not single diseases but have varied origins, and as exome sequencing expands into clinical care, the promise of precision medicine continues to motivate the creation of smaller and smaller disease subgroups.

Rare Disease Day 2017 is therefore an opportunity to call upon researches, universities, students, companies, policy makers and clinicians to do more research and to make them aware of the importance of research for the rare disease community and for the community as a whole.


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