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

Bio-IT 2017 – Data Security, Data Sharing, Data Access, Data Integration, Data …

 

The 15th annual Bio-IT conference – with the theme “Building a global network for precision medicine by uniting the Bio-IT community” – clearly had as its underlying theme the many different aspects of data that need to be addressed to make precision medicine a true reality, as echoed throughout the many talks and discussions. This was reflected in both the keynotes, as well as the panel discussions that focused on data regulations, security, and getting patients to feel good about sharing their data. The first hackathon launched by Bio-IT World had the focus on FAIR [findable, accessible, interoperable, and reproducible] data. Many commercial announcements or recent advancements in artificial intelligence revolved around new and improved data analysis solutions. This year’s Best in Show award selections featured Starfish Storage’s Starfish V4, SciBite LaunchPad, SolveBio’s Operating System for Molecular Information, Dana Farber Cancer Institute / The Hyve’s MatchMiner v1.0, and Seven Bridges’ CAVATICA.

Coinciding with Bio-IT were a number of major announcements as listed below:

Benjamin Franklin Award

  • This year’s Benjamin Franklin Award – an award presented annually by bioinformatics.org to an individual who has, in her or his practice, promoted free and open access to the materials and methods used in the life sciences – was awarded to Rafael Irizarry, Professor of Biostatistics at Harvard and the Dana-Farber Cancer Institute, who has dedicated his career to developing statistical methods and open source software for helping researchers analyze genomics data.

Best Practices Award

  • As every year the commercial sector is actively following the Best Practices awards leading up to this event (check out the pre-conference finalists). This year’s Best Practices award winners included the Maccabi Healthcare System “Clinical IT & Precision Medicine” for the implementation of an advanced AI and machine learning algorithms to identify high-risk, under-the-radar patients, Rady Children’s Institute for Genomic Medicine in “Informatics” for improved and expedited precision medicine for newborns by 26-hour whole genome sequencing, Allotrope Foundation in “Knowledge Management” for developing a holistic set of capabilities to improve data access, interoperability, and integrity through standardization, and the Earlham Institute in “IT infrastructure/HPC” by applying high-performance computing to improve global food security, Biomedical Imaging Research Services Section (BIRSS) as the Judges’ Choice Award, and last but not least Alexion Pharmaceuticals as the Editors’ Choice Award.

Best of Show Award

Data management and analysis

Data interpretation

Informed drug discovery

Miscellaneous

Funding

 

Can 2017 top 2016?

In the life sciences, 2016 brought us many significant developments, and thank goodness, it’s mostly exciting and great to talk about those in length. I am talking here about technological advancements, the many new applications next-generation sequencing is seeing, genetics moving into the clinic, precision medicine finding its mark in oncology and beyond, immunotherapy establishing itself as the leading weapon to attack cancer, and more.

The significance of these developments is further manifested with clinical omics taking shape, hospitals adopting new applications, and testing and treatments that are based on next-generation sequencing, omics data, and more. The results speak a clear language: improved diagnostic tests, and more precise therapeutics.

Here a few highlights – not an all-inclusive summary – of what made 2016 so exciting.

2016

Next-generation sequencing matures

In 2016, we’ve reached a stage where the limitations of next-generation sequencing is not at the level of sequence data generation anymore, rather the limitations are associated Continue reading

At AGBT 2016, the Winners Are Long Reads and Whole Solutions

AGBT_logo_RGBThis year’s pilgrimage of geneticist, genomics scientists, and along with that commercial companies was to the JW Marriott in Orlando and not as usual to Marco Island – however, we were assured that the next two AGBT events are already confirmed to be held on Marco Island again. The Orlando Marriott setting seemed fine; nothing beats the Marco island environment with its beach setting which is well worth the extra hour bus ride from the airport to take you there. Having said this, the setting appeared to be more favorable for the vendors in particular, given the more open arrangement of large suites inviting easy access and interactions with conference attendees. Continue reading

At Bio-IT 2015 Big Data via Integration Platforms for Data Analysis, Patient Monitoring, and Collaboration

Bio-IT2015_image2

Last week’s Bio-IT World Conference and Expo in Boston was attended by more than 3,000 scientists, members of the pharmaceutical industry, and subject matter experts to discuss latest requirements in data analysis, management, and storage, and in the context of all of that, cloud computing and data integration.

For me the conference started out with an excellent keynote session by Chris Sander from Memorial Sloan-Kettering Cancer Center discussing on how to deliver Precision Medicine in cancer while touching upon the fantastic insights into the molecular diversity of tumors as provided in the Cancer Genome Atlas. He finished up with describing the cBioPortal which organizes data for over 20,000 tumor samples from 89 cancer studies. Following Continue reading