Title: “Rare Diseases: From a Pharmacologist’s Perspective”

Abstract

Background: Rare diseases effect an exceedingly small number of patient population worldwide. Often these are undiagnosed or there is a late diagnosis because of lack of suspicion or awareness about these diseases. Pharmacologists in India form a crucial crux in determining different treatment modalities and it is essential they are made aware of rare diseases which can contribute to meagre treatment modalities.

Objectives: To determine awareness and perspective of pharmacologist’s regarding rare diseases in India.

Materials and methods: A questionnaire survey were circulated amongst pharmacologists based in India that contained baseline demographic data, awareness, knowledge and opinion for including study of rare diseases in curriculum. The survey form was prepared using google services and circulated through commonly used social media that included Facebook, WhatsApp, instant messaging amongst others.

Results: A total of 35 responses were recorded from different pharmacologists. The median age of participants was 35 years. 51.43% of participants had experience as pharmacologists between 3 to 5 years. 45.7% of participants had very good or good knowledge about rare diseases. 34.3% of participants felt confident in caring for patients with rare diseases and a similar percentage had studied rare diseases as students. 94.3% of participants felt a need to broaden their knowledge regarding rare diseases. 80% felt need to include rare diseases in medical curriculum.

Conclusion: There is urgent need to include rare diseases in medical curriculum.