Diploid Tackles the Challenges of Rare Disease Diagnostics

enlightenbio is excited to introduce our new “Company Spotlight” blog series where we will review some of the exciting work that is currently ongoing in up- and-coming companies. Moving forward we plan on reviewing and profiling some of these companies and their products on a regular basis.

At ASHG, I had a chance to meet with Peter Schols, CEO of Diploid, a small seven person company located in Leuven, Belgium. I took this opportunity to learn more about Diploid, and Moon, the software the company has built, and its intended application to help diagnose rare disease.

The following summarizes questions and answers from my dialogue with Peter Schols.

EB: Tell us more about Diploid – what need are you trying to address and what services do you offer?

PS: Diploid is a privately funded, rare disease diagnostics company founded in 2014. Diploid started with offering an interpretation service, helping our customers analyze rare disease sequence data. Customers send us NGS data of a patient together with a description of the phenotype, and we deliver a report listing the most likely candidate variants. We focus exclusively on rare disease testing and currently support the Continue reading

2015 – A Year of Health Initiatives, Commercial Milestones, Company Acquisitions, and Scientific Achievements

2015 was a fast moving and busy year in the many fields of science, next-generation sequencing, diagnostics, and of course precision medicine. A lot can be attributed to technological advancements particularly in next-generation sequencing which has shaped where we are today. Resulting applications are growing, building on major research findings, evident in the clinic and in industry achievements in areas of aging, obesity, the precision medicine initiative, diagnostics, the $1,000 genome, liquid biopsy, NIPT, new approaches towards breast cancer treatment, and much more.

PMiUnprecedented press clearly went to the purposeful Precision Medicine Initiative (PMI) with its launch at the State of the Union address by the President in early 2015. Since then this year has brought us a flurry of activities related to this prominent initiative: building an advisory committee to the NIH Director (ACD), the creation and approval of the ACD’s working group report, the announcement of initial funding opportunities, the
White House addressing and releasing Privacy and Trust Principles, the announcement of the 2016 budget, and last but not least the launch of the precisionFDA community platform at the end of the year.

Companies have reached new milestones. 23andMe, with a $1 Billion evaluation, has entered the drug discovery arena via building its own unit and large pharmaceutical collaborations that will mine their massive customer DNA database (>800,000). The Continue reading