Corporate Comment

Rare diseases, common challenges T

he two-dayWorld Congress meeting in Cambridge, MA, drew academic and industry researchers, nonprofits,

CROs, patients and patient advocates to explore the best ways to develop new treatments for rare diseases. As we prepare for the 3rd World Congress, here are some of the stories that inspired us.

A cancer survivor launches a biotech When David Hysong founded the biotech Shepherd Therapeutics in his late 20s, he had no experience of running a company and no background in science.What he did have was a rare formof head and neck can- cer called adeno cystic carcinoma that was largely untreatable with chemotherapy drugs, much like thousands of other patients with rare cancers. That was inspi- ration enough for the young entrepreneur. David started Shepherd with the idea

that it might one day be a “one-stop shop for rare cancer patients and for companies looking to expand their assets”. Today, using software and proprietary algorithms to analyse research on rare cancers, and pairing that analysis with patient profiles, demographics and other data, Shepherd Therapeutics helps to develop treatment plans for patients with rare cancers. David was recognised with the 2018 Charles River Annual Research Award for his work in advancing the cause of rare cancers.

Venture philanthropy enables transformative therapies One of the biggest success stories in rare diseases is cystic fibrosis, an incurable lung condition that used to claimpatients by age five. With today’s drugs, the average life expectancy is 46 and growing. This progress may not have occurred

were it not for the non-profit Cystic Fibrosis Foundation (CFF). Dr Preston


A cancer survivor launches a biotech, a foundation creates a blueprint for venture philanthropy and the voice of patients.A look back at Charles River’s 2ndWorld Congress.

Campbell, CFF President, described how his organisation’s venture philanthropy model evolved after research supported by the foundation led to the discovery of the defective cystic fibrosis transmembrane conductance regulator (CFTR) gene in 1989 (well before the human genome was mapped). Despite this new genetic ‘blueprint’, no

one was focusing on CFTR as a target, so the CFF developed a venture philanthropy model to spur interest. They provided finan- cial resources and access to scientific tools and advisors. Under thismodel, two ground- breaking drugs directly targeting mutant CTFR were co-developed with Vertex. This success was a ‘blueprint’ of its own. As Campbell pointed out, “successful collabora- tions breed successful collaborations”.

Inspired by patient advocates What do parents do when their child is born with a rare and potentially deadly dis- ease? That was the quandary that both Mark Dant andMike Porath faced.Mark’s son Ryan was diagnosed with aMucopoly- saccharidos 1 (MPS) 1, a degenerative dis- order that would likely kill him by the age of 10. Mike’s daughter Annabel was diag- nosed with Dup15Q Syndrome, a chromo- somal disorder that can result in growth and developmental abnormalities. Like any parent would, Mark and Mike

grieved, but they also took action. Mark and his wife Jeanne created the Ryan Foundation to help find a treatment for their son’s condition. Mike created a web- site called The Mighty, a digital platform for all people with disease and disabilities, and their families. The fundraising efforts of the Ryan

Foundation led to a treatment that has helped Ryan live a life the Dants once feared would not be possible, while Mike’s daughter Annabel goes to school, loves cooking and is, says Mike, “generally a very happy kid”.

Patients are waiting How will novel approaches to target dis- ease drivers, artificial


genomics and expedited paths to regulato- ry approval accelerate our delivery of new treatments to people in need? Join your peers this Fall at the 3rd

Annual World Congress to discuss poten- tial solutions and more. Fuel your imagina- tion and inform your next discovery with insight

from leading innovators in

academia and industry. Ignite your passion with inspiring stories from patient advo- cates. Share your thoughts and lay the foundation of future collaborations to drive your success. Accelerating drug devel- opment is no easy task. Are you up for the challenge?

DDW Drug DiscoveryWorld Summer 2019

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