Rare Diseases and Drug Outcomes

Rare diseases (RD) are more than 7.000; whilst individual conditions can be very infrequent, RD overall affect millions of citizens  at global level, and are considered as a whole a significant issue. RD are not a neglected topic anymore. Several targeted actions at international, European and national level, have tackled both public health and research aspects in the last decade.

However, a lot remain to be performed mainly at diagnostic and treatment level. In particular, about 30% of patients are still undiagnosed; moreover, only symptomatic therapy is  still available for the majority of persons with RD.

The Rare Diseases Working Group (WG) will focus on:

(a) Rare undiagnosed diseases

(b) Rare phenotypes within rare conditions

(c) Rare pharmacogenomic-related adverse drug reactions

The WG will work in close collaboration with other scientific bodies (IRDiRC, ICORD) and institutions (RD at NCATS, UDP at NIH, ISS) active in the field of Rare Diseases.

The WG will also steer the development of research on RD in developing countries, by transferring and sharing scientific expertise, models and best practices as well as by seeking contacts with Universities, scientific associations, institutions and patient organizations.


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