Industrializing rare disease therapy discovery and development
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Recent progress in gene therapies could offer more options for treating GARDs.
“Since a majority of GARDs stem from genetic disorders, recent progresses in gene therapies could offer more options for treating GARDs.[3, 5]”
From RNA delivery biomaterials for the treatment of genetic and rare diseases (2019) · cites this paper as [5]
A majority of GARDs stem from genetic disorders.
“Since a majority of GARDs stem from genetic disorders, recent progresses in gene therapies could offer more options for treating GARDs.[3, 5]”
From RNA delivery biomaterials for the treatment of genetic and rare diseases (2019) · cites this paper as [5]
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Cites
Rare diseases and orphan drugs
Melnikova, I. (2012) · Nature Reviews Drug Discovery · doi:10.1038/nrd3654 · Cited by 214 · see citing works
VandenDriessche, T., Thorrez, L., Acosta‐Sanchez, A., Petrus, I., Wang, L., Ma, L., Waele, L. D., Iwasaki, Y., Gillijns, V., Wilson, J. M., et al. (2006) · Journal of Thrombosis and Haemostasis · doi:10.1111/j.1538-7836.2006.02220.x · Cited by 210 · see citing works
Yang, Y., Allen, E., Ding, J., & Wang, W. (2007) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-007-6396-4 · Cited by 55 · see citing works
Restoration of Cytoskeleton Homeostasis After Gigaxonin Gene Transfer for Giant Axonal Neuropathy
Mussche, S., Devreese, B. V., Kalburgi, S. N., Bachaboina, L., Fox, J. C., Shih, H.-J. S., Coster, R. V., Samulski, R. J., & Gray, S. J. (2013) · Human Gene Therapy · doi:10.1089/hum.2012.107 · Cited by 52 · see citing works
Multifaceted roles of ultra-rare and rare disease patients/parents in drug discovery
Wood, J., Sames, L., Moore, A. T., et al. (2013) · Drug Discovery Today · doi:10.1016/j.drudis.2013.08.006 · Cited by 40 · see citing works
Shen, T. S., Lee, A., Shen, C., & Lin, C. J. (2015) · Genetics Research · doi:10.1017/s0016672315000166 · Cited by 27 · see citing works
The Discovery of Medicines for Rare Diseases
Swinney, D. C., & Xia, S. (2014) · Future Medicinal Chemistry · doi:10.4155/fmc.14.65 · Cited by 24 · see citing works
Patients as key partners in rare disease drug development
Bronstein, M. G., & Kakkis, E. (2016) · Nature Reviews Drug Discovery · doi:10.1038/nrd.2016.133 · Cited by 23 · see citing works
Gilkes, J. A., Bloom, M. D., & Heldermon, C. D. (2015) · Gene Therapy · doi:10.1038/gt.2015.111 · Cited by 12 · see citing works
Disruptive Innovation and Transformation of the Drug Discovery and Development Enterprise
FasterCures, Munos, B. H., & Orloff, J. J. (2016) · NAM Perspectives · doi:10.31478/201607c · Cited by 12 · see citing works
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Exploiting machine learning for end-to-end drug discovery and development
Ekins, S., Puhl, A. C., Zorn, K. M., Lane, T. R., Russo, D. P., Klein, J. J., Hickey, A. J., & Clark, A. M. (2019) · Nature Materials · doi:10.1038/s41563-019-0338-z · Cited by 578 · see citing works
Self-citationArtificial intelligence (AI) in rare diseases: is the future brighter?
Brasil, S., Pascoal, C., Francisco, R., dos Reis Ferreira, V., A. Videira, P., & Valadão, G. (2019) · Genes · doi:10.3390/genes10120978 · Cited by 160 · see citing works
RNA delivery biomaterials for the treatment of genetic and rare diseases
Zhao, W., Hou, X., Vick, O. G., & Dong, Y. (2019) · Biomaterials · doi:10.1016/j.biomaterials.2019.119291 · Cited by 82 · see citing works
eRAM: encyclopedia of rare disease annotations for precision medicine
Jia, J., An, Z., Ming, Y., Guo, Y., Li, W., Liang, Y., Guo, D., Li, X., Tai, J., Chen, G., et al. (2018) · Nucleic Acids Research · doi:10.1093/nar/gkx1062 · Cited by 35 · see citing works
Doing it All - How Families are Reshaping Rare Disease Research
Ekins, S., & Perlstein, E. O. (2018) · Pharmaceutical Research · doi:10.1007/s11095-018-2481-7 · Cited by 10 · see citing works
Self-citation
- Authors
- Ekins, S.
- Affiliations
- Phoenix Nest (United States) (US)
- Corresponding author
- Ekins, Sean
- ORCID
- Ekins, Sean
- Venue
- Nature Biotechnology
- Published
- 2017-02
- Volume
- 35
- Issue
- 2
- Pages
- 117-118
- ISSN
- 0733-222X (ISSN-L)
- 1087-0156
- 1546-1696
- PMC
- PMC5320585
- OpenAlex
- W2587028347
- Cited by
- 28
- References
- 10
- Citations by year
- 2025: 1 · 2024: 2 · 2023: 4 · 2021: 5 · 2020: 2 · 2019: 6 · 2018: 6 · 2017: 2
- FWCI
- 2.90
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Biotechnology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Rare Disease Foundation
- National Institutes of Health
- National Institute of Neurological Disorders and Stroke (R42NS089061)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Health Sciences › Medicine › Reproductive Medicine › Science, Research, and Medicine
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › CRISPR and Genetic Engineering
- Keywords
- rare diseases, drug discovery, drug development, industrialization, congenital generalized lipodystrophy, deep learning, rare disease therapeutics
- MeSH terms
- Clinical Trials as Topic, Drug Industry, Humans, Genetic Therapy, Rare Diseases, Drug Discovery, Giant Axonal Neuropathy
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