Collaboration for rare disease drug discovery research
Open Access
- 31 October 2014
- journal article
- Published by F1000 Research Ltd in F1000Research
Abstract
Rare disease research has reached a tipping point, with the confluence of scientific and technologic developments that if appropriately harnessed, could lead to key breakthroughs and treatments for this set of devastating disorders. Industry-wide trends have revealed that the traditional drug discovery research and development (R&D) model is no longer viable, and drug companies are evolving their approach. Rather than only pursue blockbuster therapeutics for heterogeneous, common diseases, drug companies have increasingly begun to shift their focus to rare diseases. In academia, advances in genetics analyses and disease mechanisms have allowed scientific understanding to mature, but the lack of funding and translational capability severely limits the rare disease research that leads to clinical trials. Simultaneously, there is a movement towards increased research collaboration, more data sharing, and heightened engagement and active involvement by patients, advocates, and foundations. The growth in networks and social networking tools presents an opportunity to help reach other patients but also find researchers and build collaborations. The growth of collaborative software that can enable researchers to share their data could also enable rare disease patients and foundations to manage their portfolio of funded projects for developing new therapeutics and suggest drug repurposing opportunities. Still there are many thousands of diseases without treatments and with only fragmented research efforts. We will describe some recent progress in several rare diseases used as examples and propose how collaborations could be facilitated. We propose that the development of a center of excellence that integrates and shares informatics resources for rare diseases sponsored by all of the stakeholders would help foster these initiatives.This publication has 81 references indexed in Scilit:
- Enabling transparent and collaborative computational analysis of 12 tumor types within The Cancer Genome AtlasNature Genetics, 2013
- Giant axonal neuropathy–associated gigaxonin mutations impair intermediate filament protein degradationJCI Insight, 2013
- Open Drug Discovery Teams: A Chemistry Mobile App for CollaborationMolecular Informatics, 2012
- Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse modelNature, 2011
- Computational Repositioning of the Anticonvulsant Topiramate for Inflammatory Bowel DiseaseScience Translational Medicine, 2011
- Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophyJCI Insight, 2011
- Antisense Oligonucleotides Delivered to the Mouse CNS Ameliorate Symptoms of Severe Spinal Muscular AtrophyScience Translational Medicine, 2011
- Oral high dose ascorbic acid treatment for one year in young CMT1A patients: a randomised, double-blind, placebo-controlled phase II trialBMC Medicine, 2009
- In silico pharmacology for drug discovery: applications to targets and beyondBritish Journal of Pharmacology, 2007
- In silico pharmacology for drug discovery: methods for virtual ligand screening and profilingBritish Journal of Pharmacology, 2007