MAIN STAGE
Translating the advances in sequencing, policy and big data for transformative change in the research and diagnostic landscape
The Main Stage theatre will host the keynotes as well as the Festival mystery speakers who will be announced over the coming months. It will also explore cutting-edge sequencing technologies and discuss establishing the UK as a global life sciences leader post-Brexit. We also have a range of sequencing workshops and roundtables. Please see here for more information
DAY 1
The Main Stage will kick off with keynote presentations from Professor Dame Sue Hill and Professor Tim Spector.
The Main Stage will then focus on advances in sequencing technologies.
In this session:
- An overview of strategic projects and updates to the NHS genomic medicine service
- What 2025 holds in store for advances in genomic medicine
Sponsored by Illumina
In this session:
- Understanding the link between omics, the microbiome, and the impact of diet on health
- The future of personalised nutrition, and improving gut health
- The impact of translating these findings will lead to a healthier population - moving from sick care to healthcare.
- Speed Networking : Fun and useful sessions where you’ll rapidly meet other Festival attendees to immediately expand your network.
- Food Options : Grab a sandwich at The Tree of Life Cafe or head on over to the Food Village for a range of hot food options including Indian, Jamaican and Thai food
- Exhibition Floor : Wander around the vibrant exhibition floor to see the latest technologies and services on offer
- Talkaoke : The Flying Saucer of Chat, a fun and interactive pop-up show that offers you the opportunity to sit down with others and discuss any topic you like.
In this session:
- Single-molecule screening
- DNA sequenced barcoded molecular probes
- Multiplexed detection
Sponsored by:
In this session:
- Paediatric cancers are the leading cause of death in children post infancy in the Western world. Comprehensive molecular profiling is essential to elucidate the molecular basis of treatment resistant disease and to guide clinical decision making. Access to high-quality tumour material for genomic profiling is a challenge in children where tissue biopsies are small. The analysis of cell-free DNA (cfDNA) from liquid biopsies for the detection of circulating tumour DNA (ctDNA) offers a powerful, minimally invasive alternative to tumour profiling. However, ctDNA analysis is currently limited in sensitivity, scalability, turnaround time and cost, hindering its implementation into standard clinical care. Emerging Nanopore sequencing can report on native DNA, is rapid and scalable at low cost, making this technology highly attractive in the clinical setting.
- In this talk, I will introduce the UK Stratified Medicine Paediatrics study which has recruited >750 paediatric patients with solid tumours, and present our Nanopore sequencing approaches for sequencing native cfDNA from these patients.
- I will then show bioinformatic approaches and tools developed in our laboratory for the analysis of Nanopore sequencing data from cfDNA.
- Finally, I will present research results to illustrate how Nanopore-based multi-modal cfDNA analysis (including copy number, methylation and fragmentomics) could be utilised to improve disease management in children with cancer by facilitating early detection, accurate diagnosis, and efficient serial monitoring of disease progression.
- Exhibition Floor : Wander around the vibrant exhibition floor to see the latest technologies and services on offer
- Food Options : Grab a sandwich at The Tree of Life Cafe or head on over to the Food Village for a range of hot food options including Indian, Jamaican and Thai food
- Live Lounge Over Lunch : 15 mins technology focussed presentations
- Poster Zone : Browse the posters and reach out to potential new collaborators
- Talkaoke : The Flying Saucer of Chat, a fun and interactive pop-up show that offers you the opportunity to sit down with others and discuss any topic you like.
- Patient Perspectives: Talks and discussions on the crucial role of patients and patient families in the understanding and development of treatments for rare diseases.
In this session:
- The application of exome and genome sequencing for patient diagnostics
- Advantages of long read sequencing in medical genetics
- The application of long read sequencing to resolve complex structural rearrangments
Sponsored by:
In this session:
- Harnessing the new PacBio PureTarget Long-read Sequencing technology, coupled with Optical Genome Mapping to study tandem repeat diseases
- How to utilise these technologies to explore tissue-specific dynamics of TCF4 triplet repeat instability
- Future studies and directions
- Speed Networking : Fun and useful sessions where you’ll rapidly meet other Festival attendees to immediately expand your network.
- Food Options : Grab a sandwich at The Tree of Life Cafe or head on over to the Food Village for a range of hot food options including Indian, Jamaican and Thai food
- Exhibition Floor : Wander around the vibrant exhibition floor to see the latest technologies and services on offer
- Talkaoke : The Flying Saucer of Chat, a fun and interactive pop-up show that offers you the opportunity to sit down with others and discuss any topic you like.
In this session:
Moving WGS from promise to patient benefit, this talk will cover the utility of WGS in diagnostics, ctDNA analysis and patient monitoring. It will outline where patients may benefit most, such as where the primary tumour unknown. How we are enriching the clinical WGS data from cancer patients with clinical metadata to create a usable research database is enabling discoveries and supporting precision oncology endeavours. How we are extending the database using RNA-seq, and other molecular data and the impact on future studies moving forward.
- How Ultima’s new sequencing architecture can address tradeoffs between the breadth, depth, and sampling frequency
- How Ultima’s transformative economics is changing the landscape of large-scale sequencing
- Examples of sequencing at scale in various markets including clinical testing, single cell and population sequencing.
In this session:
- Whole genome vs. targeted approaches in ctDNA sequencing
- Machine learning frameworks to differentiate cancer signal from sequencing noise
- Emerging methods to decrease sequencing error in whole genome sequencing for low abundance variant detection
DAY 2
Welcome to Day 2. The Main Stage will start with 3 keynote presentations and then move on to discuss RNA sequencing and establishing the UK as a stronger force in the life science space post-Brexit.
The Festival will end with a Mystery Keynote Speaker who will be unveiled on Tuesday 3 December!
In this session:
- What 2025 looks like for Genomics England's priorities
- Building and scaling upon the growth of the UK’s genomics ecosystem
- Building upon the UK datasets and feeding this back to research
Sponsored by:
- Speed Networking : Fun and useful sessions where you’ll rapidly meet other Festival attendees to immediately expand your network.
- Food Options : Grab a sandwich at The Tree of Life Cafe or head on over to the Food Village for a range of hot food options including Indian, Jamaican and Thai food
- Exhibition Floor : Wander around the vibrant exhibition floor to see the latest technologies and services on offer
- Talkaoke : The Flying Saucer of Chat, a fun and interactive pop-up show that offers you the opportunity to sit down with others and discuss any topic you like.
In this session:
- Transcriptome analysis holds promise to improve the diagnostic yield in neurodevelopmental disorders.
- We explored the diagnostic potential of RNA-seq in 96 patients including 67 undiagnosed subjects with NDDs.
- Analysis was performed by a user-friendly web application, and candidate pathogenic transcriptional events were confirmed by secondary assays.
- Building the web-accessible application has enabled RNA-seq to be utilised as a molecular diagnostic tool across multiple disease areas without the time-limiting factor of needing a bioinformatician doing every analysis on every patient
In this session:
To investigate the high proportion of unresolved diagnoses in Rare Disease patients, NIHR BioResource have started two major research programmes
RNA phenotyping project
Samples from 1,000 Rare Disease patients (17 Rare Disease areas) will undergo short read and long read WGS, RNA sequencing on 4 isolated blood cell types and proteomics methodologies, generating a wealth of in-depth genomic and expression data across these disciplines to facilitate discovery of new disease mechanisms.
Long Read Sequencing project
Generate WGS data on a further 3,000 patients across 15 Rare Disease areas which are diagnostic negative using short-read sequencing technology
This will enable investigation of whether technology improvements (longer reads) will enable detection of variation in difficult to sequence or align genome regions and generate epigenetics (methylation) data
Both projects aim to enhance the knowledge base for these Rare Diseases and enable new genomics discoveries and research avenues or enhanced diagnostic detection with the aim of reducing the diagnostic odyssey and developing new treatments.
- Exhibition Floor : Wander around the vibrant exhibition floor to see the latest technologies and services on offer
- Food Options : Grab a sandwich at The Tree of Life Cafe or head on over to the Food Village for a range of hot food options including Indian, Jamaican and Thai food
- Live Lounge Over Lunch : 15 mins technology focussed presentations
- Poster Zone : Browse the posters and reach out to potential new collaborators
- Talkaoke : The Flying Saucer of Chat, a fun and interactive pop-up show that offers you the opportunity to sit down with others and discuss any topic you like.
In this session:
- genomDE: Germany's path to whole genome sequencing in medical care as part of the statutory health insurance service
- Integrated infrastructure for healthcare and research
- Close integration with other national research infrastructures, in particular the Medical Informatics Initiative of the German university medicine
- Preparation for the European Health Data Space
This panel will discuss:
- The priorities and challenges around national genomic initiatives
- Implementing equitable precision medicine
- Speed Networking : Fun and useful sessions where you’ll rapidly meet other Festival attendees to immediately expand your network.
- Food Options : Grab a sandwich at The Tree of Life Cafe or head on over to the Food Village for a range of hot food options including Indian, Jamaican and Thai food
- Exhibition Floor : Wander around the vibrant exhibition floor to see the latest technologies and services on offer
- Talkaoke : The Flying Saucer of Chat, a fun and interactive pop-up show that offers you the opportunity to sit down with others and discuss any topic you like.
This panel will discuss:
- Future proofing the UK’s life science industry's strengths
- Project highlights
- Collaborating with industry