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

PMWC 2016 Silicon Valley: Scalable Clinical Data Interpretation The Biggest Bottleneck


This year’s Personalized Medicine World Conference (PMWC 2016 Silicon Valley) was comprised of many exciting sessions and presentations in the area of next-generation sequencing, different diagnostics applications, precision medicine, big data analysis, the microbiome, large cohort studies, biobanking, and data interpretation/knowledge extraction. In addition to providing a great set of overview talks on latest developments and achievements across the health care sector, in pharma, and related to regulatory aspects, this latest rendition of PMWC also featured great government presence with Kathy Hudson (Deputy Director for Science, Outreach, and Policy, NIH) and Elizabeth Baca (Health Advisor to Governor Brown’s Office of Planning and Research) sharing respective updates on Continue reading

Engaging the crowd: our best bet to reach ambitious goals in healthcare

Over the last couple of months, I’ve come across a great number of tools that engage theCoolTown Studios crowd to solve a problem. I wanted to dig a little bit deeper to understand some examples of what has been done using the crowd. Image credit: CoolTown Studio

Crowdsourcing applies to a wide range of different activities, which includes crowd-funding, crowd-voting, crowd-based competition, crowd-based gaming, and the recently added crowdcoding.  Crowdsourcing, before it entered the healthcare sector, was used in gaming and other industries. One particularly well-publicized effort was the  Continue reading

For four days, San Francisco’s Japantown was the center of genomics

Japan Town_vPNGAt the end of June I was fortunate enough to attend the second annual Clinical Genome conference, a meeting hosted by Cambridge Healthtech Institute. The conference was divided into two sections: “The Science of Investigation and Interpretation” (all about science) and “The Business of Integration and Implementation” (all about business and regulatory aspects). Kudos to the organizers for selecting a great set of speakers and a terrific location, smack in the middle of Japan Town in San Francisco, surrounded by good restaurants and a nice coffee shop right across the street. I want to share with you some of the highlights from the science section of the conference.

Let me start out with some interesting quotes I heard over the course of the first two days while attending the science section:

  • B. Korf: Genome is the library of life, and not the book of life – we can read the words, but we do not understand them.  Continue reading