Some rare disease collaborations have been described in the following publications:

Beaulieu CL, Samuels ME, Ekins S, McMaster CR, Edwards AM, Krainer AR, Hicks GG, Frey BJ, Boycott KM, Mackenzie AE, A generalizable pre-clinical research approach for orphan disease therapy, Orphanet 7:39, 2012

Wood J, Sames L, Moore A, Ekins S, The multifaceted roles of rare disease parent / patient advocates in drug discovery, Drug Disc Today, 18: 1043–1051, 2013.

Sames L, Moore A, Arnold R and Ekins S, Recommendations to enable drug development for the inherited neuropathies: Charco-Marie-Tooth and Giant Axonal Neuropathy, F1000Research 3: 83, 2014

Litterman NK, Rhee, M, Swinney DC and Ekins S, Collaboration for rare disease drug discovery research, F1000Research 3:261, 2014

Ekins S, Collecting Rare Diseases, F1000Research, 3:260, 2014

Ekins S and Wood J, Incentives for starting small companies focused on rare and neglected diseases Pharm Res, 33: 809-815, 2016

Ekins S, Industrializing rare disease therapy discovery and development, Nat Biotechnol, 35: 117-118, 2017

Ekins S and Perlstein EO, Doing it All - How Families are Reshaping Rare Disease Research, Pharm Res, 35: 192, 2018

Ekins S, Gerlach J, Zorn KM, Antonio BM, Lin Z, Gerlach A. Repurposing Approved Drugs as Inhibitors of Kv7.1 and Nav1.8 to Treat Pitt Hopkins Syndrome, Pharm Res. 2019 Jul 22;36(9):137.

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An article in LaRegione 8 October 2019