Genomics Research Theme
Our Genomics research team provides the analytical and computational expertise that supports the development of new genetic therapies across the MRC CoRE. By combining genomic data, computational modelling and decision-support tools, the team aims to help researchers identify promising therapeutic approaches and make informed decisions about which treatments to develop.
A central focus is the development of shared tools and data systems that support research across the Blood, Brain and Eye themes. These tools will help researchers analyse genetic information, understand how specific genetic changes contribute to disease, and assess which therapeutic strategies may be most suitable for different conditions.
The team is also working to identify patients and genetic variants that could be suitable for nucleic acid therapies, treatments that use DNA or RNA-based molecules to modify gene activity or address disease-causing genetic changes. Working closely with the Centre's Patient and Public Involvement and Engagement (PPIE) Manager, researchers aim to develop responsible and effective approaches to communicating with patients about emerging treatment opportunities.
Rather than developing entirely new systems, the team is building on established international research frameworks, including those developed by the N=1 Collaborative (N1C), which supports the development of individualised treatments for rare genetic conditions.
Through this work, the Genomics team aims to establish a coordinated, data-driven approach to therapeutic development, helping researchers across the Centre translate advances in genomic medicine into potential treatments for patients.
Research projects
Genetic Therapeutics Commons
The Commons is a database and suite of tools to connect patients with therapies.
Health Economics
Who can afford these treatments?
Identify and contact patients
Finding patients when we learn more about how to treat their conditions
Automated assessment
How much can we tell about a particular variant
GeneSYS
Pulling together all the available information on editing
GeneDB
Pulling together all the available information on genes
OligoAI
Learning everything we can from the available literature
Automated cell culture and screening at scale
Using the CellXpress.ai platform for faster and more standardised testing of potential therapies
Theme publications
Reference genomes and fossils revise bat family phylogeny and biogeography
Functional analysis of TTN uORFs reveals context-dependent translational regulation
Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project
Beyond innovation: why rare disease gene therapy needs a reset
Genome-wide association studies of infant and toddler temperament in European and multi-ancestry populations
Harmonizing standards and resources for the medical genome
Health economic evaluations of genomic newborn screening: Approaches by studies within the international consortium on newborn sequencing
The cost and cost-effectiveness of whole-exome and whole-genome sequencing: a systematic literature review
A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discovery
Personalized CRISPR therapies could soon reach thousands — here’s how
Team
Professor Nadav Ahituv
MRC CoRE TG Site Lead, UCSF
Director for the Institute for Human Genetics at the University of California, San Francisco
Coline Arnould
EMBO Postdoctoral Fellow
Izzy Barraclough
Personal Assistant to Stephan Sanders, University of Oxford
Alex Blakes
Postdoctoral researcher
Dani Breitinger-Blatt
Programme Manager, University of Oxford
Carme Camps
Postdoctoral Researcher
Emily Castells
Research Assistant, University of Oxford
Peggy Cheung
Executive Assistant and Project Coordinator for the Oxford BRC Genetics Theme
Ruebena Dawes
Postdoctoral Bioinformatician
Chengyu Deng
Postdoctoral Researcher
Prasun Dutta
Senior Bioinformatician
Lino Ferreira
Post-Doctoral Researcher
Sarah Fong
Postdoctoral Scholar, CIRM Fellow
Jonny Gondzic
DPhil student
Michael (Mike) Griffiths
Data manager
Tamar Grossman
Co-Founder & Chief Executive Officer @ La Jolla Labs Inc.
Mona Hashim
Research Assistant
Barney Hill
DPhil Student, University of Oxford
Belusochi Joe-Ikechebelu
Research Assistant
Pamela Kaisaki
Postdoctoral Researcher
Yesim Kesim
Postdoctoral Researcher
Soo-Whee Kim
Postdoctoral Research Associate
Yujin Kim
Postdoctoral Researcher
Benny (Beniamin) Krupkin
PhD Student
Deb Lancaster
Executive Director Scientific Partnership, Genomics England
Marlen Lauffer
Senior Researcher, Dutch Center for RNA Therapeutics | Co-Lead, Patient Identification workgroup, N1C.
Marina Luchner
DPhil Student
Frederick McElwee
Researcher in Health Economics
Anthony Mcguigan
DPhil Student, University of Oxford
Liz Morrell
Senior Researcher
Dianne Newbury
Staff Scientist, University of Oxford
Yang-Kai Ng
DPhil student
Nicole Nolen
Programs Manager, N1C
Alyssa Parker
Postdoctoral Researcher
Alex Petukhova-Greenstein
DPhil student
Archana Ramesh
DPhil Student, University of Oxford
Narjes Rohani
Postdoctoral Research Associate
Professor Stephan Sanders
MRC CoRE TG Director
Professor of Paediatric Neurogenetics, University of Oxford
Associate Professor, University of California, San Francisco (UCSF)
Dan Speckhard-Pasque
Software Developer
Shahzaib (Shaz) Tariq
DPhil Student
Professor Jenny Taylor
MRC CoRE TG Genomics Theme Lead
Professor of Translational Genomics, University of Oxford
Laura Watts
Senior Information Governance Manager
Jessica West
Postoctoral Fellow
Nicola (Nicky) Whiffin
MRC CoRE Research Culture Co-Lead
MRC CoRE Genomics Theme Co-Lead
Associate Professor and Career Development Award Fellow, University of Oxford
Emilie Wigdor
Postdoctoral Researcher, University of Oxford
Sarah Wordsworth
MRC CoRE Health Economics Lead | Professor of Health Economics, University of Oxford
Leads the Health Economics Genomics England Clinical Interpretation Partnership (GeCIP) for the UK’s 100,000 Genomes Project
Winston Yan
President, N=1 Collaborative | Co-Founder at Arbor Biotechnologies
Timothy Yu
Co-founder, N1C; Clinician Researcher, Boston Children's Hospital