Resources, challenges and way forward in rare mitochondrial diseases research.

Resources, challenges and way forward in rare mitochondrial diseases research. Rajput NK, Singh V and Bhardwaj A. [v1; ref status: indexed, http://f1000r.es/54x] F1000Research 2015, 4:70 (doi: 10.12688/f1000research.6208.1) OPEN ACCESS

Rare diseases affect over 300 million people globally, however the true burden of these diseases on human health remains to be determined. Rare genetic variants are disease causing and lead to a personalized disease manifestation. Thus, it is time to review the disease definition considering both the molecular mechanisms involved and environmental factors leading to differential phenotypes. This will allow for a better understanding of both rare and common diseases. On the other end, a paradigm shift in drug discovery and development is also needed to translate the effort in understanding disease mechanisms to identify potential therapeutic routes. Newer models and platforms that allow involvement of patient communities in research and development is also expected to offer solutions to patients suffering from rare diseases who may then benefit from appropriate treatment options. Community collaborative approaches for research and funding offer an unprecedented opportunity for making new discoveries and translating to therapeutic interventions.


 Resources, challenges and way forward in rare mitochondrial diseases research.