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Pharma Industry Players Work Together to Raise Awareness and Find Cures for Rare Diseases

Posted on February 28th, 2019 by in Pharma R&D

On February 28, events around the world are held in honor of Rare Disease Day, an annual occasion designed to raise awareness among the general public as well as among policy makers, government bodies, healthcare professionals and researchers. Rare diseases have become a major focus for cross-industry collaborations in recent years, and for good reason:

  • There are over 7,000 rare diseases
  • 1 in 20 people will live with a rare disease at some point
  • Most rare diseases do not yet have a cure

Nonprofits are doing a lot to drive interest in this often-neglected area. The Chicago-based Cures Within Reach, for example, is a nonprofit that has been doing important work in advancing rare disease research. “We focus all our energy on taking science and medicine that already exists for human use and finding new uses for it in unsolved diseases and medical conditions,” says Dr. Bruce Bloom, the organization’s CEO, in the first of a series of Elsevier podcasts on rare diseases.

In the podcast, which you can listen to here, Dr. Bloom talks to Elsevier’s Jabe Wilson about drug repurposing, explaining how it helps address rare disease, the many challenges that surround it, and the value that AI and machine learning can offer. Cures Within Reach works as a catalyst for repurposing research, bringing together researchers and funders, facilitating crowd sourcing and identifying alternative financing models. Their efforts have resulted in the funding of dozens of repurposing projects and improvements in many diseases.

Large pharmaceutical companies have for a long time considered it financially prohibitive to tackle these unusual illnesses and conditions. As Dr. Bloom notes in the podcast, there are obstacles ranging from the sheer number of these types of diseases to the difficulty of finding enough patients to participate in clinical trials. But organizations like Cures Within Reach and collaborative initiatives such as the Pistoia Alliance—which includes participation from pharma heavy hitters such as GSK, Novartis and Pfizer—are helping draw industry into the fight against rare disease.

Elsevier, in association with Pistoia Alliance, Cures Within Reach and Mission Cure, recently sponsored a Datathon for Drug Repurposing for Rare Diseases that utilized Elsevier’s cloud-based Entellect platform to find drug candidates for the treatment of chronic pancreatitis. In response to the success of the event, Dr. Bloom said, “It was astounding to me that after hundreds of people had been working for years to try and come up with these repurposing candidates, in 60 days, a handful of people using AI were able to add to that list and show mechanism of action and other kinds of things that were just incredible.”

Rare Disease Day provides a great opportunity for people to find out more about the work happening around rare disease research through movie screenings, presentations, conferences, “family night” activities, art contests, 5K runs, online information sessions and much more (click here for details). In addition to events like the Datathon, Elsevier will also continue the conversation through its podcast so look out for future episodes about rare disease research!

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