Resources, challenges and way forward in rare mitochondrial diseases research.
Over 300 million people are affected by about 7000 rare diseases globally. There are tremendous resource limitations and challenges in driving research and drug development for rare diseases. Hence, innovative approaches are needed to identify potential solutions. This review focuses on the resources developed over the past years for analysis of genome data towards understanding disease biology especially in the context of mitochondrial diseases, given that mitochondria are central to major cellular pathways and their dysfunction leads to a broad spectrum of diseases. Platforms for collaboration of research groups, clinicians and patients and the advantages of community collaborative efforts in addressing rare diseases are also discussed. The review also describes crowdsourcing and crowdfunding efforts in rare diseases research and how the upcoming initiatives for understanding disease biology including analyses of large number of genomes are also applicable to rare diseases.
Open Source Drug Discovery (OSDD) Unit, Council of Scientific and Industrial Research, New Delhi, 110001, India.
Neeraj Kumar
NK
Rajput
Amity Institute of Biotechnology, Amity University, Noida, Uttar Pradesh, 201301, India.
Vipin
V
Singh
Open Source Drug Discovery (OSDD) Unit, Council of Scientific and Industrial Research, New Delhi, 110001, India.
Anshu
A
Bhardwaj
crowdfunding; crowdsourcing; genome variation; mitochondria; mitochondrial DNA; next generation sequencing; rare disease; semantic-web