Rare Diseases: Drug Discovery and Informatics Resource
- 1 November 2017
- journal article
- review article
- Published by Springer Science and Business Media LLC in Interdisciplinary Sciences: Computational Life Sciences
- Vol. 10 (1), 195-204
- https://doi.org/10.1007/s12539-017-0270-3
Abstract
A rare disease refers to any disease with very low prevalence individually. Although the impacted population is small for a single disease, more than 6000 rare diseases affect millions of people across the world. Due to the small market size, high cost and possibly low return on investment, only in recent years, the research and development of rare disease drugs have gradually risen globally, in several domains including gene therapy, enzyme replacement therapy, and drug repositioning. Due to the complex etiology and heterogeneous symptoms, there is a large gap between basic research and patient unmet needs for rare disease drug discovery. As computational biology increasingly arises researchers' awareness, the informatics database on rare disease have grown rapidly in the recent years, including drug targets, genetic variant and mutation, phenotype and ontology and patient registries. Along with the advances of informatics database and networks, new computational models will help accelerate the target identification and lead optimization process for rare disease pre-clinical drug development.Keywords
Funding Information
- National Natural Science Foundation of China (Contract No. 61503244)
- SMC - Morning Star Young Scholar Award of Shanghai Jiao Tong University
- National High-tech R&D Program (Contract No. 2012AA020307)
- National Basic Research Program of China (Contract No. 2012CB721000)
- Key Research Area Grant from the Ministry of Science and Technology of China (2016YFA0501703)
- Ph.D. Programs Foundation of Ministry of Education of China (Contract No. 20120073110057)
This publication has 110 references indexed in Scilit:
- If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD)Contemporary Clinical Trials, 2012
- Unveiling the role of network and systems biology in drug discoveryTrends in Pharmacological Sciences, 2010
- Self-complementary AAV-mediated gene therapy restores cone function and prevents cone degeneration in two models of Rpe65 deficiencyGene Therapy, 2010
- Gene Therapy for Leber's Congenital Amaurosis is Safe and Effective Through 1.5 Years After Vector AdministrationMolecular Therapy, 2010
- Prediction and Evaluation of Protein Farnesyltransferase Inhibition by Commercial DrugsJournal of Medicinal Chemistry, 2010
- Normoglycemia alone is insufficient to prevent long-term complications of hepatocellular adenoma in glycogen storage disease type Ib miceJournal of Hepatology, 2009
- Systematic Evaluation of Drug–Disease Relationships to Identify Leads for Novel Drug UsesClinical Pharmacology & Therapeutics, 2009
- The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary DiseaseAmerican Journal of Human Genetics, 2008
- Network‐based global inference of human disease genesMolecular Systems Biology, 2008
- Targeted high-efficiency, homogeneous myocardial gene transferJournal of Molecular and Cellular Cardiology, 2007