From global challenges to groundbreaking discoveries - 10 ways the Nanopore Community redefined genomics in 2024
This year, the Nanopore Community tackled some of the world's toughest challenges, turning them into extraordinary scientific breakthroughs. From confronting deadly pathogens in hospital corridors to mapping elusive telomeres and safeguarding endangered species, researchers have pushed the frontiers of genomics in ways that promise more equitable healthcare, more resilient ecosystems, and a deeper understanding of life itself.
1. Strengthening UK biosecurity with genomics
COVID-19 has demonstrated just how quickly pathogens can adapt and spread, exposing the weaknesses of traditional surveillance. To counter this, a first-of-its-kind surveillance network across 30 NHS hospitals is leveraging rapid nanopore sequencing to pinpoint emerging pathogens and antimicrobial resistance in real time. By enabling early intervention, our approach promises a faster, more proactive defence against future pandemics.
2. Advancing precision medicine in Singapore
Home to a rapidly growing, multi-ethnic population, Singapore faces a challenge in understanding the genomic data of its population. To address this, Singapore’s National Precision Medicine programme has set out to sequence 10,000 genomes, using nanopore technology to capture the region’s vast genetic diversity. These findings are set to drive more accurate diagnostics, tailored treatments, and equitable healthcare, while establishing a new global standard for large-scale genomic studies.
3. Breakthroughs in telomere biology
Nobel laureate Carol Greider and her team made a significant leap in telomere biology this year, using nanopore sequencing to map telomere lengths across chromosomes and individuals. Her team concluded that telomere lengths are determined at birth and human health is profoundly affected by it. Complementing this, Oxford Nanopore’s end-to-end telomere sequencing protocol (Telo-seq), offers unprecedented resolution of telomere dynamics, unlocking new research avenues in disease prevention.
4. Transforming rare disease diagnostics
Rare disease patients often endure years of unanswered questions, searching for diagnoses that remain stubbornly out of reach. Nanopore sequencing is changing this story, by helping to reveal these elusive genetic variants. Dr. Ahmad Abou Tayoun demonstrated a potential increase of 13% in diagnostic success using this technology, while Shloka Negi’s research solved cases involving complex mosaicism and rare genetic variants. Even in early-onset Parkinson’s, Daida et al. pinpointed pathogenic structural variants in 26% of unresolved cases. This progress is transforming lives and pushing the boundaries of precision medicine.
5. Innovations in clinical microbiology
Antimicrobial resistance and fast-spreading pathogens threaten healthcare systems worldwide, yet traditional diagnostic methods are lagging. Enter rapid nanopore-based metagenomic sequencing, which has transformed clinical microbiology in 2024. At Guy’s and St Thomas’ NHS Foundation Trust, researchers slashed respiratory infection diagnosis times to under seven hours, enabling faster, targeted treatments. Elsewhere, groundbreaking work by Carlisle et al. and Sauerborn et al. revealed how nanopore’s ultra-long sequencing capabilities uncover elusive pathogens and antimicrobial resistance, tackling some of the biggest challenges in global health.
6. Advancing conservation genomics
How do we protect endangered species without disrupting their fragile ecosystems? This year, researchers used nanopore sequencing to decode the genomes of species like the Ecuadorian brown-headed spider monkey and the hourglass dolphin, paving the way for targeted conservation strategies. Portable nanopore devices also brought biodiversity studies into the field, empowering local communities to safeguard ecosystems while keeping science decentralised and accessible.
7. Unlocking secrets with direct RNA sequencing
RNA holds the secrets to countless diseases, but uncovering its mysteries has long been a challenge. In 2024, direct RNA sequencing transformed this field, enabling scientists to study RNA modifications with unprecedented precision. At the London Calling 10th anniversary, Carika Weldon captivated the audience with her groundbreaking research on how RNA changes drive breast cancer progression, showing how this technology is redefining disease understanding and potential diagnosis.
8. Protein sequencing in Nature
What if we could decode proteins as easily as DNA? In a groundbreaking study published in Nature, researchers from the University of Washington showcased how Oxford Nanopore’s platform can sequence single protein molecules. This ‘proof-of-concept’ study demonstrated the ability to read intact polypeptides, opening new possibilities for unravelling complex biological processes and advancing treatments for disease.
9. Transforming epigenetics with data storage and disease insights
Unlocking the secrets of the epigenome – the chemicals and proteins that modify or mark the genome – could transform our understanding of diseases like cancer and dementia. This year, nanopore sequencing achieved a dual breakthrough: being used for the high-throughput retrieval of data encoded on complex epigenetic patterns (in this study), and launching the world’s first large-scale epigenetic dataset with UK Biobank. Covering 50,000 samples, this resource promises groundbreaking insights into disease mechanisms and new diagnostic approaches.
10. Shaping the future through education
Our final highlight celebrates a truly inspiring moment from NCM Boston, where 16-year-old Noah Bryan from Bayview Secondary School became the first high school student to take the stage. He confidently presented his field-based water contamination test, developed using nanopore sequencing, and explained why the MinION is "the perfect tool" for tackling this global challenge.
We’d love to hear your thoughts!
What were your highlights of 2024? Join the conversation on our social platforms and let us know which Oxford Nanopore moment stood out as your favourite. Let’s celebrate another year of incredible innovation and look ahead to even greater discoveries in 2025!