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Blog

Developing RNA Medicines for Rare Genetic Diseases
Developing RNA Medicines for Rare Genetic Diseases
Blog

There are approximately 7,000 known rare diseases, however, less than 6% of these have a treatment. It is estimated that between 25–35 million Americans live with a rare disease. The company ProQR is dedicated to developing new therapeutics for patients living with untreated rare diseases. We caught up with Daniel de Boer, Chief Executive Officer at ProQR to learn more about the company’s approach to finding new treatments for rare genetic diseases.

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NGS Workflows: A Simpler Life Through Software
NGS Workflows: A Simpler Life Through Software
Blog

Having too much data sounds like a nice problem to have. But Next Generation Sequencing (NGS) data’s ubiquity poses challenges as well as opportunities for geneticists. Quick, accurate and reliable workflows are top of the average geneticist’s wishlist. We caught up with OGT’s Dave Cook to discuss the challenges of NGS data, and how software can make things simpler.

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Plasmid Platform Promises a Unique Data Sharing Solution
Plasmid Platform Promises a Unique Data Sharing Solution
Blog

No scientist is an island, and to maximize the power of data, researchers have to share their results with the wider community. Now, GenScript's launch of its MolecularCloud platform suggests sharing plasmid data may become easier than ever before.

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Single Cell Analysis with the BD AbSeq Assay
Single Cell Analysis with the BD AbSeq Assay
Blog

New tools are enabling researchers to explore individual cells with unprecedented clarity, allowing RNA and protein expression levels to be simultaneously analyzed. In this blog, Brian Lilhanand, Global Platform Leader, Single Cell Multiomics, at BD, discusses how BD’s new AbSeq Assay can provide this targeted profiling and benefit immunology researchers.





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Helping Rare Disease Reseach BeHEARD
Helping Rare Disease Reseach BeHEARD
Blog

Earlier this summer, the Rare Genomics Institute announced the winners of the 2018 BeHEARD (Help Empower & Accelerate Research Discoveries) Challenge. The Challenge tasks researchers or foundations working in fields of rare disease research to apply for grants, either financial or technological, to assist their research. We caught up with the Institute’s Arvin M. Gouw to discuss the awards and the battle against rare disease.

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The Sequencing Technology Behind The World's Fastest Genetic Diagnosis
The Sequencing Technology Behind The World's Fastest Genetic Diagnosis
Blog

In February 2018, a team at Rady Children's Institute for Genomic Medicine broke the world record for the fastest genetic diagnosis when they delivered a rare disease diagnosis in just 19 hours 30 minutes. We caught up with John Reynders, CEO of Alexion, to discuss how the record was broken, and why diagnosing rare diseases is important in modern medicine.

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Determining Prognostic Significance of Biomarkers for Risk Stratification of Early Stage Lung Cancer
Determining Prognostic Significance of Biomarkers for Risk Stratification of Early Stage Lung Cancer
Blog

During this year’s AACR Annual Meeting we spoke to Dr. Delphine Lissa and Dr. Ana Robles from the National Cancer Institute to learn more about the team’s most recent study on the use of two specific biomarkers for risk stratification of stage I lung cancer patients.

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Digital Pathology Solution Could Speed Up Prostate Cancer Diagnosis
Digital Pathology Solution Could Speed Up Prostate Cancer Diagnosis
Blog

To learn more about ContextVision, their move into the field of digital pathology, and how INIFY™ could help benefit pathologists and patients, we spoke to Lena Kajland Wilén, Director Business Unit Digital Pathology.

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HPV-Positive Oropharyngeal Cancers: Predicting Treatment Response Using ddPCR
HPV-Positive Oropharyngeal Cancers: Predicting Treatment Response Using ddPCR
Blog

During this year’s AACR Annual Meeting we spoke to Julianna Supplee, Research Technician at the Robert and Renée Belfer Center for Applied Cancer Science at Dana-Farber Cancer Institute, to learn more about the team’s most recent study on the use of plasma HPV cell-free DNA as an early predictor of treatment response in patients with advanced oropharyngeal cancer.

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Using Cell-free DNA as a Marker for Liver Cancer Diagnosis
Using Cell-free DNA as a Marker for Liver Cancer Diagnosis
Blog

During this year’s AACR conference we spoke to Kang Zhang, M.D., Ph.D. from the University of California, San Diego about the collaborative work he has been doing with the Laboratory for Advanced Medicine. He discusses their recent study findings on the use of a blood-based method to look at cell-free DNA as a marker for liver cancer diagnosis and prognosis.

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