Pharmaceutical Research

, 35:192 | Cite as

Doing it All - How Families are Reshaping Rare Disease Research

  • Sean EkinsEmail author
  • Ethan O. Perlstein


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.


disruption drug discovery machine learning multiple sulfatase deficiency rare diseases 



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.


  1. 1.
    Sachs J. This father founded a medical research startup to save his Kid’s life. Fast Company Available from:
  2. 2.
    Dierks T, Schmidt B, Borissenko LV, Peng J, Preusser A, Mariappan M, et al. Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C (alpha)-formylglycine generating enzyme. Cell. 2003;113(4):435–44.CrossRefPubMedGoogle Scholar
  3. 3.
    Patten SA, Aggad D, Martinez J, Tremblay E, Petrillo J, Armstrong GA, et al. Neuroleptics as therapeutic compounds stabilizing neuromuscular transmission in amyotrophic lateral sclerosis. JCI Insight. 2017;2(22):97152.CrossRefPubMedGoogle Scholar
  4. 4.
    Lane T, Russo DP, Zorn KM, Clark AM, Korotcov A, Tkachenko V, Reynolds RC, Perryman AL, Freundlich JS, Ekins S. Comparing and validating machine learning models for mycobacterium tuberculosis drug discovery. Mol Pharm. 2018 Apr 26.
  5. 5.
    Patel PI, Roa BB, Welcher AA, Schoener-Scott R, Trask BJ, Pentao L, et al. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-tooth disease type 1A. Nat Genet. 1992;1(3):159–65.CrossRefPubMedGoogle Scholar
  6. 6.
    Mandel J, Bertrand V, Lehert P, Chumakov I, Scart-Gres C, Guedj M, et al. A meta-analysis of randomized double-blind clinical trials in CMT1A to assess the change from baseline in CMTNS and ONLS scales after one year of treatment. Orphanet J Rare Dis. 2015;10(1):74.CrossRefPubMedPubMedCentralGoogle Scholar
  7. 7.
    Jang SW, Lopez-Anido C, MacArthur R, Svaren J, Inglese J. Identification of drug modulators targeting gene-dosage disease CMT1A. ACS Chem Biol. 2012;7(7):1205–13.CrossRefPubMedPubMedCentralGoogle Scholar
  8. 8.
    Inglese J, Dranchak P, Moran JJ, Jang SW, Srinivasan R, Santiago Y, et al. Genome editing-enabled HTS assays expand drug target pathways for Charcot-Marie-tooth disease. ACS Chem Biol. 2014;9(11):2594–602.CrossRefPubMedPubMedCentralGoogle Scholar
  9. 9.
    Clark AM, Ekins S. Open source Bayesian models: 2. Mining a "big dataset" to create and validate models with ChEMBL. J Chem Inf Model. 2015;55:1246–60.CrossRefPubMedGoogle Scholar
  10. 10.
    Ekins S. Industrializing rare disease therapy discovery and development. Nat Biotechnol. 2017;35(2):117–8.CrossRefPubMedPubMedCentralGoogle Scholar

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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