Title |
Doing it All - How Families are Reshaping Rare Disease Research
|
---|---|
Published in |
Pharmaceutical Research, August 2018
|
DOI | 10.1007/s11095-018-2481-7 |
Pubmed ID | |
Authors |
Sean Ekins, Ethan O. Perlstein |
Abstract |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 12 | 41% |
Ireland | 2 | 7% |
Sweden | 1 | 3% |
France | 1 | 3% |
United Kingdom | 1 | 3% |
Australia | 1 | 3% |
Germany | 1 | 3% |
Unknown | 10 | 34% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 26 | 90% |
Scientists | 2 | 7% |
Practitioners (doctors, other healthcare professionals) | 1 | 3% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 32 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Other | 6 | 19% |
Student > Master | 4 | 13% |
Professor | 3 | 9% |
Student > Ph. D. Student | 3 | 9% |
Student > Bachelor | 2 | 6% |
Other | 4 | 13% |
Unknown | 10 | 31% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 6 | 19% |
Biochemistry, Genetics and Molecular Biology | 2 | 6% |
Nursing and Health Professions | 2 | 6% |
Pharmacology, Toxicology and Pharmaceutical Science | 2 | 6% |
Psychology | 2 | 6% |
Other | 3 | 9% |
Unknown | 15 | 47% |