Doing it All - How Families are Reshaping Rare Disease Research
Open accessAbstract
The face of rare disease drug discovery and development is changing right before our eyes. The outliers of the past were the plucky parents who summoned up the courage to try to treat their children against all odds. Think of the rare disease focused movies 'Lorenzo's Oil' and 'Extraordinary Measures' but now accelerated to develop treatments even quicker. Parents, patient advocates and their collaborators are now capable of doing it all themselves. We think this will have profound implications for everyone from the incumbent rare disease foundations that have held sway for decades to the multibillion dollar rare disease market, BioPharma companies, VCs and angel investors that inhabit this space. The repercussions of this disruption will no doubt impact healthcare in general and ultimately influence how we develop treatments for major diseases as well. We present several lines of evidence for our viewpoint from our personal experiences interacting with many rare disease families and patient advocates in recent years.
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Several recent efforts have focused on developing pipelines using natural language processing and human curation to mine promising targets for drug development for rare diseases.
“Several recent efforts have focused on developing pipelines using natural language processing and human curation to mine promising targets for drug development for rare diseases57.”
From Exploiting machine learning for end-to-end drug discovery and development (2019) · cites this paper as [57]
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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
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- Authors
- Ekins, S., & Perlstein, E. O.
- Affiliations
- Phoenix Nest (United States) (US)
- Corresponding author
- Ekins, Sean
- Venue
- Pharmaceutical Research
- Published
- 2018-08-16
- Volume
- 35
- Issue
- 10
- Pages
- 192-192
- ISSN
- 0724-8741 (ISSN-L)
- 1573-904X
- PMC
- PMC6159905
- OpenAlex
- W2887133962
- Cited by
- 10
- References
- 9
- Citations by year
- 2024: 2 · 2023: 1 · 2022: 1 · 2021: 2 · 2020: 3 · 2019: 1
- FWCI
- 2.29
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Pharmaceutical Research (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute of Neurological Disorders and Stroke (1R41NS089061-02, 1R41NS092221-01A1)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (1R41HD092110-01)
- University of North Carolina (FY2018 UNC Research Opportunities Initiative (ROI) Award)
- Topics
- Health Sciences › Health Professions › General Health Professions › Mental Health and Patient Involvement
- Health Sciences › Medicine › Physiology › Biomedical Ethics and Regulation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- rare diseases, rare disease drug development, patient advocacy, relatives of patients, drug discovery, biopharmaceutical industry, venture capital, angel investors
- MeSH terms
- Machine Learning, Foundations, Humans, Parents, Rare Diseases, Drug Discovery
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