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Pharmaceutical Research

, 35:192 | Cite as

Doing it All - How Families are Reshaping Rare Disease Research

  • Sean Ekins
  • Ethan O. Perlstein
Commentary

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.

KEY WORDS

disruption drug discovery machine learning multiple sulfatase deficiency rare diseases 

Notes

ACKNOWLEDGMENTS AND DISCLOSURES

We kindly acknowledge extensive discussions with many rare disease parents and their foundations as well as Springboard Enterprises for bringing together rare disease entrepreneurs in 2017. SE acknowledges funding from NIH NINDS 1R41NS089061–02 and 1R41NS092221-01A1, NIH NICHD 1R41HD092110–01 and FY2018 UNC Research Opportunities Initiative (ROI) Award. SE is a co-founder and employee of Collaborations Pharmaceuticals, Inc., Phoenix Nest Inc. and scientific advisory board member for the Pitt Hopkins Research Foundation. EOP is the founder and CEO of Perlara PBC.

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Collaborations Pharmaceuticals, Inc.RaleighUSA
  2. 2.Phoenix Nest IncBrooklynUSA
  3. 3.Perlara PBCSouth San FranciscoUSA

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