Abstract
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.
Highlights
Mitochondria are organelles present in every cell of the body and generate almost all of the energy needed by the cells to grow and sustain life
Mitochondrial diseases are characterized as (i) those with sporadic or maternally inherited mitochondrial DNA (mtDNA) mutations, (ii) those with abnormalities with Mendelian transmission of the trait, i.e., disorders believed to be due to mutations in nuclear genes that control mitochondrial biogenesis, and (iii) those that are caused by nuclear genes but are misinterpreted as mitochondrial based on the biochemical findings4,5. mtDNA point mutations which can either be maternally inherited or generated somatically have been associated with many diseases like A3243G for MELAS, A8344G for MERRF, T8993G for NARP, etc
Mitosoc is a society for physicians, clinicians and researchers working for the better diagnosis, management and treatment of mitochondrial diseases. http://mitosoc.org/
Summary
Mitochondria are organelles present in every cell of the body (except red blood cells) and generate almost all of the energy needed by the cells to grow and sustain life. While there are a large number of resources available on various aspects of human mtDNA, a major bottleneck is the lack of documentation of genomic variation data across populations with clinical details to evaluate these variations for disease association. The other initiatives by NCATS for rare diseases include Office of Rare Disease Research (ORDR) (http://www.orphadata.org/cgi-bin/inc/ordo_orphanet.inc.php) which coordinates a large number of collaborative research efforts towards rare diseases including support to institutes and centers, managing patient registry, human bio-specimen repository, to name a few major activities. Rare Diseases Clinical Research Network (RDCRN) (http://rarediseases.info.nih.gov/research/pages/41/ rare-diseases-clinical-research-network), from ORDR, focuses on advancing medical research on rare diseases by facilitating collaboration, study enrollment and data sharing It connects scientists from multiple disciplines across various clinical sites globally to work with patient advocacy groups. IMP is a network of patient organization working on mitochondrial disease. http://www.mitopatients.org/index.html
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