Monday, October 3, 2016

The Value of Rare Diseases


It’s a busy month in Boston. Just a few days before Partnerships in Clinical Trials US (PCT), leading researchers and investors kicked off the discussion at HubWeek on the value of rare disease.

A panel discussion headlined “Is Every Disease a Rare Disease?” heard of the evolution of disease and what the future might hold in terms of new treatments.

When the first International Classification of Diseases (ICD) was published back in 1900, just 174 diseases were identified. The latest edition, ICD10, has over 8,000 diseases.

Anna Greka MD, PhD of the Broad Institute said molecular markers are now allowing us to target cancers in a new way, but we are really just scratching the surface on the specificity of a particular disease.

Genome-wide association studies (GWAS) that look at the genetic variants in a specific population can help identify a genetic target, particularly in rare disease.

“Rare disease is important as it can be well defined and (drug) specificity may mean it’s less likely to have on-target or off-target complication,” she said.

Even when the cause of a condition is known through increasing use of genomic tools such as GWAS, developing a drug to treat the cause is the hardest part. The gene responsible for the rare condition of cystic fibrosis was discovered 25 years before a drug for the genetic target was successfully developed by Vertex.

Challenges in developing a drug range from effective site selection to patient identification and recruitment; as well as patient retention once they have enrolled on the study. In our experience at Raremark, patients tell us they can end up leaving a trial for the simplest of reasons, such as a failure to have their expenses reimbursed months after they’ve been incurred.

Great science is the foundation, as HubWeek has covered. Next week, let’s talk about a development process that makes patients feel they are a valued part of creating the future. Saying thank you for taking part, would be a good start.


Julie Walters is the founder of Raremark, www.raremark.com which helps families affected by rare disease. She recently won Best Investment in a High-Growth Women Founder at the UK Business Angels Association. @julieannwalters




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