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Tuesday 
23 
June 
2026
8:45am
 - 
6:45pm


Call for abstracts now open. 

 

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This year at the summit

The 2026 summit will bring together researchers, clinicians, industry partners, and technologists to explore the latest science driving genomic medicine forward.

 

With a strong focus on innovation and next-generation technologies, the summit showcases new opportunities for discovery, collaboration, and real-world impact. Attendees will gain clear insights into the breakthroughs shaping clinical care today and the innovations that will define the future.

Abstract submission

Abstract submissions are now closed. Applicants will be contacted in due course.

Speakers

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Augusto Rendon

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Chiamaka P Ojiako

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Claire Whitehill

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Dr Alexandra Martin Geary

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Dr Anupriya Dalmia

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Dr Emily Perry 

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Dr Helen Bulbeck

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Dr Isidro Cortés-Ciriano

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Dr Joanna Ziff

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Dr Katie Snape

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Dr Miles Parkes

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Dr Naomi Cornish

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Dr Nicky Whiffin

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Dr Rich Scott

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Dr Rowan Howell

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Dr Sergei Yakneen

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Dr Zhihao Ding

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Emma Walters

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Fazeleh Hoseini

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Professor Jim Smith

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John James OBE

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Lisa Beaton

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Professor Patrick Chinnery

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Professor Dr Ron Van Schaik

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Professor Richard Houlston

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Professor Stephan Sanders

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Samuel Chuku

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Videha Sharma

This year at the summit

The 2026 summit will bring together researchers, clinicians, industry partners, and technologists to explore the latest science driving genomic medicine forward.

 

With a strong focus on innovation and next-generation technologies, the summit showcases new opportunities for discovery, collaboration, and real-world impact. Attendees will gain clear insights into the breakthroughs shaping clinical care today and the innovations that will define the future.

 

Venue


Exhibitors

Interested in exhibiting at our Summit? We have a limited number of exhibitor opportunities available. 



Find out more about this year's exhibitors by clicking their logos.

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Frequently Asked Questions

What's the event all about and why should I come?

The Summit is a one-day, in-person event showcasing the latest research and technology innovations from Genomics England, our partners, and the wider genomic research and healthcare community. It’s an opportunity to hear new insights, connect with experts, and explore emerging developments in genomic medicine.

Can I submit an abstract?

The abstract submission deadline has now passed and applicants were informed of the outcome in May. If you have a query regarding your submission please contact the Events Team directly.

Is this event free to attend?

Yes, it's free to attend. 

What is the registration process and how do I register?

Registration is now open. You can register via the registration button on this page. Once you’ve registered, you’ll receive a confirmation email, with further information shared ahead of the event.

Will the event be recorded?

No, the event will not be recorded and sessions will not be available to watch on demand after the event.

Where is the event and how do I get there?

The Business Design Centre is a short walk from Angel Underground Station, as well as King’s Cross and St Pancras International stations.

Dietary requirements:

Please let us know of any dietary requirements when registering.

Accessibility requirements:

Please advise us of any access requirements when registering so we can help make your participation as smooth and enjoyable as possible.

Attendance on the day

Please do not attend this in-person event should you have COVID-19 symptoms or are feeling unwell.

Will a certificate of attendance be issued?

Yes. A certificate of attendance will be issued once you complete the post-event feedback form.

Get in touch: 

If you have any questions please get in touch with the Events Team via email events@genomicsengland.co.uk. 

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Ardigen SA

Ardigen is a world-leading AI-powered drug discovery CRO bringing transformative AI solutions to biotech and pharma. Our advanced platforms and deep scientific expertise turn data into pivotal insights to accelerate the drug development process and deliver successful therapies to patients faster. With Ardigen, you can seamlessly integrate AI capabilities into your drug discovery pipeline and optimize every step along the way.

 


www.ardigen.com

 illumina

At Illumina, our mission is to improve human health by unlocking the power of the genome. Our sequencing by synthesis chemistry is used to generate high-accuracy DNA and RNA sequence data in studies around the globe. Our microarrays provide accurate, high-throughput genotyping for a range of applications. The innovative products that we provide have already helped researchers make breakthroughs in many biological areas, including oncology, reproductive health, genetic disease, precision medicine, agriculture, microbiology, and beyond. The progress we see inspires us to push the boundaries of what is possible so we can create the next generation of genomics solutions.

 


www.illumina.com

Lifebit

Lifebit is the world’s leading provider of federated Trusted Research Environments. Our Federated Data Network includes 275 million patients from over 50 partners and spans all therapeutic areas and modalities, with a particular focus on molecular and multi-omic data.

Lifebit supports major data organisations like Optum, 23andMe, Flatiron Health, Genuity Sciences, or Cancer Research Horizons and national programs such as the NIH National Library of Medicine, Genomics England, Singapore’s Ministry of Health (TRUST/PRECISE), Israel's National Genome Project Psifas, CanPath and the Danish National Genome Center among others. Generating large amounts of biomedical data has become relatively straightforward. The challenge is finding, accessing, standardising and analysing this sensitive data stored across thousands of disconnected locations. Lifebit solves this challenge with unique and patented federated technology that brings analysis and computation to where data resides. This enables researchers to run analyses on multiple, distributed datasets, in-situ, avoiding the risky movement of highly sensitive data.

At Lifebit, we are on a mission to harness the power of connected data to drive advancements in precision medicine. Advancing life-saving treatments starts with equipping researchers worldwide with the right data, enabling them to advance research, and develop precise therapies, faster.


www.lifebit.ai

Oxford Nanopore Technologies

Oxford Nanopore Technologies’ vision is to bring the widest benefits to society through enabling the analysis of anything, by anyone, anywhere. The company has developed a new generation of nanopore-based sensing technology that delivers information-rich, rapid, accessible and affordable DNA and RNA analysis. Used in more than 125 countries, it aids in understanding human, plant, animal, bacterial, viral, and environmental biology, as well as a range of diseases including cancer.

 


www.nanoporetech.com

Revvity Omics

Revvity Omics, a part of Revvity, Inc., is the global leader in newborn screening and clinical genomics testing. We are a leading provider of advanced genomic and molecular diagnostic services, dedicated to revolutionizing healthcare through cutting-edge technology and deep scientific expertise. Our comprehensive portfolio encompasses a wide range of testing solutions, including genetic sequencing, biomarker assays, and personalized medicine diagnostics, catering to both clinical and research markets.


At Revvity Omics, we are committed to empowering healthcare providers, pharmaceutical companies, and researchers with the tools they need to advance precision medicine. Our state-of-the-art laboratories are equipped with the latest technologies in next-generation sequencing (NGS), single nucleotide variant (SNV) analysis, copy number variant (CNV) detection, and more, ensuring accurate and reliable results that drive better patient outcomes.


Our Clinical Genomic Services include:
• A full continuum of care, from preconception and prenatal to neonatal, pediatrics, and adult patients.


• Cutting-edge laboratories equipped with the latest instruments and platforms for multi-omics testing.


• A flexible testing menu, including customizable gene panels (AnyPanel™), WholePanel™ (WGS-based panels), whole exome sequencing, and whole genome sequencing to meet diverse testing needs.


Revvity Omics is constantly pushing the boundaries of what’s possible in healthcare. Our mission is to enhance the quality of life through the power of precision diagnostics, offering solutions that are not only comprehensive but also tailored to meet the unique needs of each patient.

 

www.revvity.com/gb-en

Softcat

Softcat is a leading UK IT infrastructure solutions provider, helping organisations use technology to succeed. We deliver independent advice, design, procurement, implementation and managed services across cloud, cyber security, networking, data, digital workspace and modern infrastructure, working with both public and private sector organisations.


https://www.softcat.com

Dr Miles Parkes

Director, NIHR Cambridge Biomedical Research Centre

Miles Parkes is Director of the NIHR Cambridge Biomedical Research Centre. He is a consultant gastroenterologist and professor of translational gastroenterology in Cambridge, and chair of the UK IBD Genetics Consortium. His research interests focus on genetic and microbial determinants of IBD and IBS susceptibility, disease course and treatment response – and how we can bring genetic advances into the clinical arena. 
 
He collaborates closely with Carl Anderson at the Wellcome Sanger Institute and is chief investigator for two major UK studies in inflammatory bowel disease:  


• The MRC- and NIHR-funded IBD BioResource which has recruited 50,000 patients with Crohn’s and ulcerative colitis in 100 hospitals UK-wide. It expedites functional genomics and other IBD research and aims to bring genetic advances into the clinic; and
• the £4.5M Wellcome-funded Profile trial of treatment strategies in 400 patients with new-diagnosis Crohn’s disease. Results of this have changed practice globally.

Dr Rich Scott

Chief Executive Officer, Genomics England

Dr Richard Scott joined Genomics England in 2015 and has been CEO since 2023. He is also an Honorary Consultant and Honorary Associate Professor in Clinical Genetics at Great Ormond Street Hospital for Children and the UCL Institute of Child Health where his practice focuses on diagnosing children with rare multisystem disorders.


Richard trained in medicine at Cambridge University and University College London. He specialised in Paediatrics and subsequently Clinical Genetics in London and completed his PhD on childhood cancer syndromes at the Institute of Cancer Research. 


Through his clinical practice and in his role at Genomics England he is passionate about harnessing the power of new genomic technologies for the benefit of patients in mainstream healthcare. 

Dr Emily Perry

Research Engagement Manager, Genomics England

Emily has been a professional genomics trainer for thirteen years. She is currently working at Genomics England, delivering training and developing documentation and online tutorials for researchers working with the Genomics England Research Environment.  
 
She was previously the Ensembl Outreach Project Leader at the European Bioinformatics Institute, leading a small team training researchers using the Ensembl website and APIs. She achieved her PhD at the University of Edinburgh in molecular biology and also has experience in scientific outreach, education and communication. 

Dr Isidro Cortés-Ciriano

Research Group Leader,

EMBL-EBI Associate Faculty, Sanger Institute 

Isidro Cortés-Ciriano leads the Cancer Genomics group at the EMBL-EBI and is Associate Faculty at the Sanger Institute. His laboratory focuses on the development of computational methods for early cancer detection and to study the mechanisms underpinning cancer evolution using whole-genome sequencing. Recent work by his group includes the discovery of novel mechanisms of cancer development, such as Loss-Translocation-Amplification chromothripsis in osteosarcoma, and the development of novel methods for the analysis of single cell and long-read sequencing data, such as SComatic and SAVANA. His laboratory is leading the application of long-read sequencing technologies for tumour profiling and liquid biopsy analysis through various national studies, such as the CRUK-funded initiatives, such as the Stratified Medicine Paediatrics (SMPEDS) programme and the Cancer Grand Challenges team SAMBAI. Before joining EMBL-EBI, Isidro trained as a postdoctoral fellow at Harvard Medical School, and received his PhD from the Pasteur Institute.

 

Dr Nicky Whiffin
Associate Professor, Wellcome Career Development Fellow and
Co-lead of the research theme in Genomics,

University of Oxford’s Big Data Institute and Centre for Human Genetics

Nicky Whiffin is an Associate Professor, Wellcome Career Development Fellow, and the co-lead of the research theme in Genomics at the University of Oxford’s Big Data Institute and Centre for Human Genetics. She is also a research fellow at St Anne’s College, a visiting scholar at the Broad Institute of MIT and Harvard, and co-chair of the Genomics England Research Network committee.  
 
Nicky’s research uses computational approaches to interpret the role of genetic variants in rare diseases, and to understand how gene regulation can be modified therapeutically. She is an expert in annotation and interpretation of variants in non-coding regions of the genome, for which she has led the creation of clinical guidelines. In 2024, Nicky’s team lead a global collaboration to describe the role of variants in the non-coding RNA RNU4-2 as a cause of the prevalent neurodevelopmental disorder ReNU syndrome. Nicky was awarded a 2024 Lister Institute Research Prize and the 2025 Balfour Lecture from the UK Genetics Society.  

Professor Patrick Chinnery

Executive Chair, Medical Research Council

Professor Chinnery’s clinical expertise is in neurology. He worked in Newcastle for many years, latterly as Director of the Institute of Genetic Medicine. In 2015, he moved to Cambridge, where he leads a research programme on mitochondrial genomics and human diseases in the MRC Mitochondrial Biology Unit.  His research has involved identifying nuclear and mitochondrial gene defects causing mitochondrial disorders, dissecting downstream disease mechanisms and studying molecular and cellular bases of mitochondrial DNA inheritance – most recently through the UK 100,000 Genomes Project. 
 
He was elected a Fellow of the Academy of Medical Sciences in 2009, is an NIHR Senior Investigator (2010), was awarded the Foulkes Foundation Medal by the Academy of Medical Sciences (2011) and is a corresponding fellow of the American Neurological Association.   
 
As well as being the MRC’s Executive Chair, Patrick is also a clinical neurologist at Addenbrookes Hospital, a non-Executive Director of UK Biocentre and jointly chairs the NIHR BioResource for Translational Research in Common and Rare diseases.

Professor Richard Houlston

Professor in Cancer Genomics and Head of Genetics and Epidemiology Institute of Cancer Research

Richard Houlston,FMedSci FRS, is Professor in Cancer Genomics and Head of Genetics and Epidemiology at the Institute of Cancer Research. A medical graduate of Imperial College, he has over 30 years of research in cancer genetics and in translating discoveries to benefit patient care. He and his research group have been active in the 100,000 Genomes Project since its inception. Now, Professor Houlston is going to lead our Pan-Cancer and Molecular Oncology community to decipher genomic variations in over 200 distinct cancer types.

Dr Alexandra Martin Geary

 Lecturer in Computational Genomics, University of Edinburgh   

Alex is a lecturer in Computational Genomics at the University of Edinburgh. Her group is interested in applying updated evolutionary tools and methods to improve variant interpretation for individuals with rare disorders and male infertility.  Alex is also a member of the Participant Panel at Genomics England, having joined the panel in 2024. In her spare time Alex enjoys Board Games Evolution and Cats.

Augusto Rendon

Chief Bioinformatician, Genomics England

Augusto leads the 100+ bioinformaticians and data scientists at Genomics England. He has over 15 years of experience growing and leading bioinformatics teams and overseeing the delivery of bioinformatics and genome analysis for population scale whole genome sequencing initiatives 
  
Augusto is a physicist by background. He did his PhD at the University of Toronto in Medical Biophysics. He then moved to do post-doctoral work in Prof. Willem Ouwehand laboratory at the University of Cambridge. There, he used statistical genomics approaches to elucidate the mechanisms of blood formation and platelet function in humans, working with a variety of experimental techniques including functional genomics assays, epigenomics, RNAseq and DNAseq. 
  
Augusto divides his time between mentoring his team, infusing bioinformatics and data science across everything that Genomics England does, and leading the development of the Research Environment. 

Dr Naomi Cornish

GW4 Clinical Academic Training Fellow, University of Bristol

Naomi is a Wellcome Trust-funded GW4 clinical academic doctoral fellow and haematology specialist trainee based at the University of Bristol. Her PhD fellowship, now in its final months, is focussed on exploring genetic risks for cancer-associated thrombosis. More broadly, she is interested in applying genetic epidemiology and data-driven approaches to improve disease risk prediction and outcomes for people with blood disorders.

Dr Rowan Howell

Senior Genomic, Data Scientist, Genomics England

Rowan Howell is a Senior Genomics Data Scientist at Genomics England, where he works on bioinformatics analysis of Oxford Nanopore genomics data. He completed a PhD in computational biology between the Francis Crick Institute and King’s College, London before conducting postdoctoral research at the Cancer Institute, UCL. While at Genomics England, Rowan has overseen analysis of the Cancer 2.0 long reads project, examining the clinical utility of ONT for cancer genomics in a cohort of hundreds of clinical cases. 

John James OBE

Chief Executive, Sickle Cell Society

John James is the Chief Executive of the Sickle Cell Society (SCS), a role which he has held since 2013. Prior to working at SCS, John spent 33 years working in the NHS including as Chief Executive of NHS Trusts and in health policy as a senior civil servant for the Department of Health and Social Care. During his time as Chief Executive of SCS, the organisation has published several reports highlighting the impact of sickle cell disease on patients and has been instrumental in the publishing of national clinical standards and guidelines. In June 2018, John was awarded an OBE as part of the Queen’s Birthday Honours. John has been a member of the King’s Fund General Advisory Council since January 2021.

Fazeleh Hoseini

Research Scientist, AI Sweden

Fazeleh Hoseini is a researcher at AI Sweden and holds a PhD in Machine Learning from Chalmers University of Technology. She leads LeakPro, an open-source platform that enables organizations to systematically assess and minimize privacy risks in machine learning pipelines, including trained models, federated learning, and synthetic data. Her work focuses on making privacy risk assessment practical and evidence-based in real-world deployment settings, including sensitive data environments such as healthcare and genomics. LeakPro is designed to support governance workflows where model disclosure decisions require transparent, auditable privacy risk assessments.

Professor Dr Ron Van Schaik

Head of Dept of Clinical Chemistry,

Erasmus MC - University Medical Center, Rotterdam

Prof. Dr. Ron H.N. van Schaik (PhD/FACB) is a European Specialist Laboratory Medicine and Full Professor Pharmacogenetics (2013) and Clinical Chemistry (2023). He is head of the Dept. Clinical Chemistry at Erasmus MC - University Medical Center Rotterdam and Director of the International (IFCC) Expert-Center for Pharmacogenetics. Main interest is the implementation of pharmacogenetic testing in routine clinical practice. He published >400 peer reviewed articles (h-index 90; Google Scholar). Specific research topics include pharmacogenetics in oncology, cardiology, psychiatry and pain medication, as well as ctDNA/liquid biopsy analyses fro guiding kung cancer treatment. Prof. van Schaik participates in national (DPWG) and international groups (ESPT, PGRN, CPIC, PharmVar, AMP, EMA) on pharmacogenetics and chairs the Dutch Network Clinical Pharmacogenetics. He is recipient of the Ortho Clinical Diagnostics Award for Outstanding Research (2001), the AACC Outstanding Speaker Award (2009) and the AACC/Mol Pathology Award for Outstanding Scientific Research (2010).

Dr Zhihao Ding

Director and Global Head of Human Genetics and
Head of Animal Health Genomics, Boehringer Ingelheim

Dr. Zhihao Ding is Director and Global Head of Human Genetics, and Head of Animal Health Genomics, at Boehringer Ingelheim. He leads teams that integrate large-scale human genetics and AI across the drug discovery pipeline, from target identification and biomarker discovery to target safety assessment, supporting programmes across Boehringer Ingelheim's therapeutic areas in human and animal health. He works with academic, clinical and national genomics partners, including Genomics England, to translate diverse genomic data into better drug discovery decisions. Trained as a statistical geneticist, he received his PhD from the Wellcome Trust Sanger Institute, University of Cambridge.

Claire Whitehill

Member of the Participant Panel at Genomics England

Claire is a member of the Genomics England Participant Panel, the Chair of the South East Genomics Medicine Service People & Communities Forum, a member of the CSNK2A1 Foundation Parent Advisory Board and sits on the Simon’s Searchlight Community Advisory Committee. 
  
She first came across genomics when her youngest daughter Kirsty was invited to be part of the 100,000 Genomes project and was diagnosed with an ultra rare condition called Okur-Chung Neurodevelopmental Syndrome. Since then Claire has been actively involved in raising awareness of Kirsty’s condition and encouraging more people to get involved in genetic research. 

 Dr Helen Bulbeck

Member of the Participant Panel at Genomics England and Director of Services and Policy at brainstrust 

Helen has experienced cancer from a carer and patient perspective. This 360-degree view means that she is well placed to understand the perspectives of patients, carers and health care professionals and is skilled in PPI advocacy. 
 
Her roles in brainstrust, a national brain cancer charity which she founded, and as a consumer representative are as a disseminator of information and the provision of a network and community, so that she can provide advice on achieving effective consumer involvement and creating a voice. Helen’s key drivers are the patients, their carers and healthcare professionals, with whom she interacts daily. Her ethos of 'none of us is as smart as all of us' is a core value for her. 
 
Elemental to Helen’s work is high performance coaching and shared decision-making. When we are no longer to able to change a situation, we are challenged to change ourselves. The coaching relationship enables us to face these challenges, so that we learn how to develop resilience and utilise resources, becoming true co-pilots in our care. 

Lisa Beaton

Member of the Participant Panel at Genomics England

Lisa is a Parent Representative for SWAN UK and has been a member of the Genomics England Participant Panel since 2023. Lisa also sits on the North East, York and Humber GMSA. She has 4 birth children, each of whom have varying diagnoses including complex medical and physical health needs and neurodiversity.  She is a foster carer and in her spare time enjoys baking, creative writing and being run ragged by her extremely demanding dogs and cats. She also has a passion for jelly tots, good coffee, cheese and chocolate, not usually all at the same time!

Emma Walters

Member of the Participant Panel at Genomics England

Emma has been a member of the participant panel at Genomics England  since 2023. She came to genomics following a finding of a pathogenic de novo variant in the ATP1A3 gene found in her son Joshua following referral  to the 100,000 genomes project.  
 
She has channeled this passion into studying for a Post Graduate Certificate in Genomic Medicine at St George’s University in London and understanding the implications for the healthcare workforce through her role as a cardiac specialist nurse at North West Anglia NHS Foundation trust. She also sits on the Yellow Card Biobank Patient Advisory Group demonstrating her keen interest in pharmacogenomics.   
 
She is passionate about ensuring strong communication with participants within the NGRL and promoting greater patient involvement in all areas of research.  

Professor Jim Smith

Director, Computer Science Research Centre 
University of the West of England 

Jim Smith is Professor of Interactive Artificial Intelligence and Director of the Computer Science Research Centre at the University of the West of England. He studied at Cambridge University, and gained a PhD in Artificial Intelligence from UWE in 1998. Much of his current research lies at the intersection of AI with privacy preservation when research for the public good is done using sensitive data. Recent projects in this area include the UKRI-funded  GRAIMATTER, SACRO, and TREvolution projects which are delivering resources and technical innovations deliver better and faster research, with a particular focus is to enable the safe and responsible use of AI and Machine Learning. He also chairs SDC-REBOOT - a UK-wide Community group dedicated to sharing and developing best practices in Output Statistical Disclosure Control (OSDC) to ensure research outputs (especially AI) protect private data and keep it secure.

Professor Jim Smith

Director, Computer Science Research Centre 
University of the West of England 

Jim Smith is Professor of Interactive Artificial Intelligence and Director of the Computer Science Research Centre at the University of the West of England. He studied at Cambridge University, and gained a PhD in Artificial Intelligence from UWE in 1998. Much of his current research lies at the intersection of AI with privacy preservation when research for the public good is done using sensitive data. Recent projects in this area include the UKRI-funded  GRAIMATTER, SACRO, and TREvolution projects which are delivering resources and technical innovations deliver better and faster research, with a particular focus is to enable the safe and responsible use of AI and Machine Learning. He also chairs SDC-REBOOT - a UK-wide Community group dedicated to sharing and developing best practices in Output Statistical Disclosure Control (OSDC) to ensure research outputs (especially AI) protect private data and keep it secure.

Samuel Chuku

Sickle Cell Patient Advocate

I am a fervent advocate for sickle cell awareness based in Leicester, UK. As someone living with sickle cell, I share my personal experiences to educate and raise public awareness about this condition. Drawing from my time in school, work, hospitals, and daily life, I aim to provide insight and foster understanding.  
 
I was a member of Genomics England’s Diverse Data programme patient voice group, contributing to research on the impact of genomics for individuals with sickle cell. I collaborated on a blog and podcast, published on the Genomics England website, to highlight our work and encourage more young men to get involved.  
Additionally, I participate in a Priority Setting Partnership with Genomics England, the James Lind Alliance, and the Sickle Cell Society, helping shape research priorities for the sickle cell community.  
 
I am passionate about amplifying patient voices and dedicated to improving the quality of life for the next generation. 

Videha Sharma

Clinical Innovation Lead,

University of Manchester and Co-founder, Fava Health

Videha is Clinical Innovation Lead at the University of Manchester and co-founder of Fava Health, a healthtech company building the digital infrastructure to deliver genomics at scale and make it part of everyday care. Originally trained as a surgeon, with a PhD in Health Informatics, he works at the intersection of healthcare, technology and design. 
 
Videha helps research teams and healthcare organisations turn complex ideas into practical solutions that work in real-world settings. A strong advocate for design-led innovation, he has led multidisciplinary teams to build patient-centred digital services, develop new clinical pathways, and shape national implementation strategies.  

Nouman Ahmed is a Data and AI Engineer at the University of Oxford’s Nuffield Department of Women’s & Reproductive Health, working with the Deep Medicine group. His research sits at the intersection of artificial intelligence, large-scale health data, and clinical risk prediction, with experience developing machine learning models using electronic health records across multi-cohort settings. Nouman’s current and emerging work focuses on applying AI and big data methods to improve early identification, risk stratification, and outcomes in women’s health, including polycystic ovary syndrome and endometriosis. He will be starting his PhD in October with the same group.

Dr Claudia P Cabrera

William Harvey Research Institute, Queen Mary University of London

Dr Claudia P. Cabrera is a Senior Lecturer in Bioinformatics at the William Harvey Research Institute, Queen Mary University of London. Her research integrates large‑scale genomic data, clinical phenotypes, and computational approaches to advance our understanding of pharmacogenomics and complex traits. She is interested in uncovering clinically actionable pharmacogenomic variants that can enhance drug safety and support fair, effective precision‑medicine strategies for individuals from diverse populations.

Professor Stephan Sanders, Professor of Paediatric Neurogenetics, University of Oxford

Stephan Sanders is Professor of Paediatric Neurogenetics in the Department of Paediatrics at the University of Oxford, a member of faculty at the University of California, San Francisco (UCSF), and an affiliate of the New York Genome Center (NYGC). He trained as a paediatrician before undertaking a PhD and Postdoctoral studies in Genetics and Bioinformatics at Yale University. In 2014, he started his lab at the University of California, San Francisco (UCSF) before moving to Oxford in 2022. He specialises in the genetics of autism spectrum disorder and other neurodevelopmental disorders, and he has helped identify hundreds of genes associated with these disorders. He sits on the Scientific Advisory Board of several patient advocacy groups focusing on specific genetic disorders. His group works on genomics, functional genomics, and genetic medicines. Dr. Sanders is the Director of the MRC Centre of Research Excellence (CoRE) in Therapeutic Genomics, co-leads the Genetics Medicine Frontier Science Hub of the Aligning Research to Impact Autism (ARIA) project and is a leader of the Autism Sequencing Consortium and a SFARI Sex Differences Collaboration project.

Dr Katie Snape

Principal Clinician, Genomics England

Dr Katie Snape is Principal Clinician at Genomics England supporting development of a translational research programme for the adult population to generate evidence and digital infrastructure to assess the impact of pre-emptive genomic testing.  Katie is Lead Consultant for Cancer Genetics at the South West Thames Centre for Genomics and Chair of the UK Cancer Genetics Group, a national organisation to improve the assessment and management of people with enhanced genetic cancer risk. Katie has a PhD in molecular genetics from the Institute of Cancer Research. Her PhD involved using next generation sequencing technologies to identify cancer associated genomic variation. Katie has a Postgraduate Certificate in Healthcare and Biomedical Education, is a Fellow of the Higher Education Academy and a Reader at City, St George’s University of London. Katie specialises in germline predisposition to haematological malignancies working in the Haematology Medicine service at Kings College Hospital.  

Dr Sergei Yakneen

Non-Executive Director on the Board of Genomics England,

Strategic Advisor to Isomorphic Labs Limited,

and Advisor on the Scientific Advisory Board of UK Biobank

Sergei Yakneen is a Canadian scientist and technology executive, residing in Switzerland and currently serving as Non-Executive Director on the Board of Genomics England, as a Strategic Advisor to Isomorphic Labs Limited, and an Advisor on the Scientific Advisory Board of UK Biobank. 


Previously Sergei was the Chief Technology Officer and part of the founding team at Isomorphic Labs, an Alphabet group AI company redefining drug design. He played a critical role in advancing the company's mission to solve all disease. In May 2024, Isomorphic Labs alongside Google DeepMind, developed and released AlphaFold 3, a pioneering AI model that predicts the structure and interactions of all life's molecules with unprecedented accuracy. Isomorphic Labs has since built a world-leading AI drug design engine comprising foundational AI models that are capable of working across multiple therapeutic areas and drug modalities. The company has partnered with Eli Lilly, Novartis, and Johnson & Johnson on a broad suite of drug design programs. The company has raised nearly $3B in funding to date from investors such as Alphabet, Thrive Capital, and GV.  


Before joining Isomorphic Labs, Sergei was Senior Vice President and CTO at SOPHiA GENETICS, where he oversaw the development and operation of an AI-based molecular diagnostics and data-driven medicine platform used in over 70 countries. His earlier career also includes launching the first Canadian software engineering center for Amazon.com, developing a Governance, Risk, and Compliance platform at BPS Inc., and leading the Technical Working Group for the Pan Cancer Analysis of Whole Genomes Project, the world’s largest cancer data analysis initiative at the Ontario Institute for Cancer Research and the European Molecular Biology Laboratory. Sergei holds a PhD in computer science from Heidelberg University, where his doctoral research focused on developing novel distributed algorithms for analysing cancer genomes, and a degree in computer science and mathematics from the University of Toronto. 

Dr Anupriya Dalmia

Senior Research Fellow, UK Dementia Research Institute,

University College London

Dr Anupriya Dalmia is a senior research fellow working at the UK Dementia Research Institute, UCL, in the Hardy lab. She works in close collaboration with Dr Arianna Tucci from Queen Mary University of London (QMUL). In 2021, Anupriya joined the Tucci lab in QMUL as a computer scientist in genomics where she focused her work on triplet repeat expansion diseases, more specifically, looking at germline repeat mutations in 11,000 trios from the 100,000 genomes data from Genomics England — which she will be speaking about in her talk today. 

Clarissa Craske

Member of the Participant Panel at Genomics England

Clarissa had a clinical diagnosis based on symptoms for over a decade before the 100,000 Genomes Project finally located the genetic cause, which was a rare variation of an already rare disease. 


Clarissa is a member of the Participant Panel and an Occupational Therapist who uses advocacy skills daily in collaborative work with clients, and hopes to bring these skills, along with experiences of healthcare and living with a rare condition, to her work with the Participant Panel. 
Clarissa joined the ARC in January 2024

Dr Joanna Ziff

Evaluation and Performance Lead, Genomics England

Dr Joanna Ziff is the evaluation and performance lead on the Generation Study at Genomics England and has led on capture and analysis of demographic data for the study. She has 10 years’ experience working in health care policy and analysis at the Department of Health and Social Care, Cabinet Office and No. 10 and has a PhD in genomics.

Chiamaka P Ojiako

Strategic Engagement Lead, Genomics England

Chiamaka P. Ojiako (Amaka) is a lawyer and health policy professional working at the intersection of data, innovation, and governance in health and development. With experience across the public, non‑profit, and international development sectors, her work spans global health, digital transformation in health, ethical data governance, and multi‑stakeholder collaboration. 
 
She has led work on health innovation, Secure Data Environments, AI strategy, and cross-system collaboration to enable the discovery, development, deployment and sustainability of innovation across multiple NHS Trusts.


Amaka is a Strategic Engagement Lead at Genomics England, where she designs engagement strategies and delivers programmes, including the Genomics, Healthcare and You engagement programme exploring public and healthcare professional perspectives towards offering genomic testing in healthcare settings for adults without a known, genetically caused or influenced condition.

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