Press Release – Wobble Genomics Presents Novel Early Detection Technology Demonstrating Exceptional Accuracy in Early-Stage Breast Cancer

The findings, which will be presented today at the Early Detection of Cancer Conference (EDCC) in San Francisco, are based on a prospective clinical study of 101 breast cancer patients and an age-matched control cohort of 101 individuals without breast cancer. By building comprehensive transcriptome profiles using full-length RNA sequencing from liquid biopsies, Wobble Genomics demonstrated the ability to separate cancer-associated RNA sequences from controls, finding new unique transcripts and creating a strong predictive diagnostic for detecting early-stage breast cancer. In addition, this technology shows the potential to provide biological and clinical insights that could enable better monitoring of disease progression, inform treatment decisions, understand treatment response and accelerate drug development for cancer.

Dr. Mike Dixon OBE, Professor of Surgery, Consultant Surgeon and Wobble Genomics collaborator, said: “While still in early stages, Wobble Genomics’ technology has the potential to exceed current methods of sequencing-based liquid biopsy diagnostics for breast cancer by providing information on tumour type, cancer activity, and monitoring response to treatment. I am looking forward to the future development of the technology, and for what it could mean for patients and the fight against cancer.”

Within the study, Wobble Genomics identified on average over 600,000 RNA transcripts per patient, with the majority of these transcripts being seen for the first time. As a comparison, the public annotation databases that curate global knowledge of genes and transcripts for humans contain approximately 250,000 transcripts in total. Wobble Genomics utilised these novel RNA transcripts to achieve their high accuracy for early-stage breast cancer diagnostics.  The vast number of new novel transcripts have the potential to offer a brand-new insight into human biology and medicine. Wobble Genomics is currently building a database with these novel transcripts, to better characterise human disease and identify biomarkers with value in a wide range of medical applications.

Dr. Han-Yu Chuang, Consulting Chief Technology Officer, said: “In the past, DNA has been central to the development of molecular diagnostic tools that have enabled the introduction of precision medicine in recent years. However, DNA has a limited scope when it comes to its utility as a diagnostic option and, as such, it can be hard to unveil the complex disease biology underlying cancers. Wobble Genomics’ technology now enables us to directly measure cellular functional states using full-length RNAs. Their diagnostic platform has achieved exceptionally high accuracy in one of the most challenging cancers to diagnose at early stages via liquid biopsy. The platform also unveils the genetic heterogeneity observed in cancer, making further strides towards early detection, progression monitoring, and treatment response.”

Wobble Genomics was established in 2021 by Dr Richard Kuo and was spun out of the Roslin institute, University of Edinburgh. It has since been operating in stealth mode, working to establish itself in long-read RNA sequencing. Long-read sequencing, hailed as Nature’s 2022 Method of the Year, is still a relatively new technology. Currently, the main challenge facing the blood test diagnostics market is the ability to see low abundance genes and associated RNA signals, which can act as markers of disease. Wobble Genomics has developed innovative solutions with its technology to address this challenge.

“We are in an exciting new era of healthcare, with the advent of new cancer therapies that have the potential to save millions of lives, and to fulfil this new potential we need the tools to see cancer in a more informative way”, said Dr Richard Kuo, Founder and CEO of Wobble Genomics. “At Wobble Genomics, we are proud to share our novel methodology for detecting RNA that were previously invisible, because when you see more, you can do more. We are excited to now sharpen our focus on working with the scientific community, with a view to accelerating advancements in oncology and ultimately, patient care.”

 

Notes to editors:

 

Details of Wobble Genomics’ EDCC poster presentation

Title: Novel Liquid biopsy technology reveals hidden RNA signals in early-stage breast cancer

Authors: Richard I. Kuo*, Yuanyuan Cheng*, Björn Geigle*, Gabriel Benitez*, Katrina Morris*, Juan Carlos Entizne*, Ahmad Zyoud*, Amy Robinson*, Jillian VanOrsouw**, Mark Barnett*, Arran Turnbull**, Rick Hockett*, Han-Yu Chuang*, J Michael Dixon**

*Wobble Genomics Ltd, **Western General Hospital, University of Edinburgh, Edinburgh, UK

Presenter: Dr Richard Kuo, Founder & CEO, Wobble Genomics

Presentation Date: Wednesday 23 October 2024

Presentation Time: 3:10-3:55pm Pacific Daylight Time (9:10-9:55pm British Summer Time)

 

Study design

Within this study, Wobble Genomics sequenced and analysed the blood transcriptomes of 101 breast cancer patients and an age-matched control cohort containing 101 individuals diagnosed to have no breast cancer. The transcripts were analysed to understand the full-length RNA differences between the blood of cancer and control patients.

202 samples were collected in the UK and Europe between 2022 and 2024. Most cancer patients (98%) were diagnosed with early-stage (I or II) breast cancer, with 85 (84.2%) having the HR+ HER2- subtype, 9 (8.9%) triple-negative, and 6 (5.9%) triple-positive.

An average of 8 million sequencing reads were generated for each patient, revealing on average over 600,000 transcripts per individual, with the large majority of these RNA sequences being seen for the first time. For reference, public databases, which hold the world’s knowledge of all genes and transcripts for humans, only contain around 250,000 transcripts in total.²

About Wobble Genomics

Wobble Genomics is an innovative healthcare and biotechnology company at the forefront of long-read RNA sequencing whose mission is to understand cancer in a new way. The company was founded by Dr Richard Kuo during his PHD at the home of genomics, The Roslin Institute, at The University of Edinburgh. The company is backed by a world-leading panel of advisors in genomics, diagnostics and oncology.

Wobble Genomics is currently conducting clinical studies in partnership with the National Health Service (NHS) in the UK. As Wobble’s technology can provide insights into diseases that will inform and improve treatment development, the team is looking towards collaborating with leading academics and researchers across the world to ultimately improve patient care.

For more information about Wobble Genomics, please visit wobblegenomics.com. You can follow Wobble Genomics on LinkedIn (https://www.linkedin.com/company/wobble-genomics/) and X (https://x.com/WobbleGenomics).

About Wobble Genomics’ technology

Wobble Genomics’ proprietary technologies Level-Up and TAMA enable the company’s scientists to investigate low level RNA biomarkers.

• Level-Up is a biochemical technology that increases the representation of low abundance RNA sequences allowing scientists to see all unique full length RNA sequences in any sample. This method differs from the commonly used targeted depletion technologies, in that it does not require prior knowledge of the sequence composition of the RNA samples, making it more powerful for discovery of new RNA sequences. Within the prospective study presented at EDCC, this method yielded more than a sevenfold increase in RNA transcript detection.
• TAMA is a bioinformatic technology, currently utilised by academic groups across a wide range of biological disciplines, which works in conjunction with Level-Up to optimise the identification of low-level signals, using RNA biology to guide understanding of the data.

 

Media contact:

Matthew Angelini, Project Manager, Wobble Genomics
Email: matthew.angelini@wobblegenomics.com

Claudia Bolouri, Associate Director, M+F Health
Email: claudia.bolouri@mandfhealth.com
Phone: +44(0)7581 157 281

 

References

1. Kuo, R. I et al. Novel Liquid biopsy technology reveals hidden RNA signals in early stage breast cancer. Poster presented at the Early Detection of Cancer Conference, San Francisco, October 2024.
2. Human assembly and gene annotation. Available at: https://www.ensembl.org/Homo_sapiens/Info/Annotation. Last accessed October 2024.
3. Marx, V. Method of the year: long-read sequencing. Nat Methods 20, 6–11 (2023). https://doi.org/10.1038/s41592-022-01730-w. Available at: https://www.nature.com/articles/s41592-022-01730-w Last accessed October 2024.