Doing it All - How Families are Reshaping Rare Disease Research

  • Sean Ekins, Ethan O. Perlstein
  • Pharmaceutical Research, August 2018, Springer Science + Business Media
  • DOI: 10.1007/s11095-018-2481-7

Families are changing rare disease research (for the better)

What is it about?

This article is focused on how different groups of parents focused on rare diseases treatment development are changing how rare disease research is performed. We are seeing a shift from the single disease expert network to the patient centered network. The parents are creating teams that can help the develop treatments. Basically like a virtual company or research group. The implications of this shift are described.

Why is it important?

We also describe how we could mine the massive amounts of biological HTS data for drug discovery to aid rare disease drug discovery. In many cases these HTS are for specific diseases and most of these datasets have never been used for machine learning. We present several approaches to do this and essentially an approach to scale rare disease drug discovery.


Dr Sean Ekins
Collaborations in Chemistry

This came out of a discussion Ethan and I had after a rare disease meeting, while we were sat at the bar! The manuscript was drafted the same day and combines the view points of us as researchers working on rare diseases and some of our interactions with families.

Read Publication

The following have contributed to this page: Dr Sean Ekins