Hurles Group

Genomic mutation and genetic disease

We study the genetic causes and biological mechanisms of rare conditions resulting from severely impaired development.

We use experimental model systems, especially cells, to understand the biology of these conditions in greater detail. We also study how DNA mutates as it is passed from one generation to the next, and the factors that influence the number and type of mutations that arise. We are a multi-disciplinary group of molecular biologists, bioinformaticians and computational geneticists.

Our people

Group lead

Professor Matthew Hurles, FMedSci, FRS

Director the Wellcome Sanger Institute and Senior Group Leader

Matthew Hurles is Director of the Wellcome Sanger Institute and leads a research group focused on deciphering the genetic causes of severe developmental disorders, and understanding how DNA mutates as it is passed from generation to generation.

Core team

Malin Andersson

Advanced Research Assistant

Dr Petr Danecek

Statistical Genetics Analyst

Dr Sebastian Gerety

Senior Staff Scientist

Dr Rachel J Hobson

Data Coordinator

Dr Sarah J Lindsay

Senior Staff Scientist

Previous core team members

Dr Nadia Akawi

Postdoctoral Fellow

Mohamed Almarri

PhD Student

Rizwan Ansari

Advanced Research Assistant

Christina Dias

Visiting Scientist

Dr Giuseppe Gallone

Former Senior Computer Biologist at the Sanger Institute

Dr Eugene Gardner

Postdoctoral Fellow

Sophie Hackinger

PhD Student

Dr Konstantinos Hatzikotoulas

Postdoctoral Fellow

Liu He

Postdoctoral Fellow

Ximena Ibarra-Soria

PhD Student

Phil Jones

DDD Informatics Team Manager

Dr Ro (Rosemary) Kelsell

Project Administrator

Darren Logan

Former CDF Group Leader

Dr Jenny Lord

Postdoctoral Fellow

Jeremy McRae

Statistical Geneticist

Dr Emmanouil Metzakopian

Career Development Fellow

Dr Joshua C. Randall

Senior Scientific Manager

Dr Gabriele Rinck

Project Manager

Patrick Short

PhD Student, Wellcome Trust PhD in Mathematical Genomics and Medicine

Dr Jawahar Swaminathan

Senior Scientific Manager (DECIPHER Project Manager)

Elizabeth Wynn

Advanced Research Assistant

Eleftheria Zeggini

Former Group Leader

Associated research

Collaborations

Collaboration

Deciphering Developmental Disorders (DDD)

The aim of the Deciphering Developmental Disorders (DDD) Study is to advance clinical genetic practice for children with developmental disorders by ...

Collaboration

Genomics England

Genomics England is a company wholly owned by the UK government, tasked with delivering genomic medicine in partnership with the NHS. ...

Collaboration

Prenatal Assessment of Genomes and Exomes (PAGE)

The PAGE study is striving to gain a better understanding of genetic variants causing developmental problems during pregnancy. The ultimate aim ...

Tools & software

Tool

DECIPHER - Mapping the Clinical Genome

DECIPHER is an interactive web-based database which incorporates a suite of tools designed to aid the interpretation of genomic variants. DECIPHER ...

Related groups

Science group

Birney Group

Using outbred genetic variation to understand basic biology

DNA sequence remains at the heart of molecular biology and bioinformatics. The Birney Associate Faculty Research Group at the Sanger ...

Science group

Cellular Generation and Cellular Screening

Scientific Operations

The Cellular Generation and Cellular Screening groups are core facilities that provides central cell biology support to the Sanger Institute, functioning ...

Science group

Gene Editing

Cellular Operations

In collaboration with our colleagues in Cellular Operations and Stem Cell Informatics, our work focuses on supporting and delivering the gene ...

Science group

Human Genetics Administration

Human Genetics

The Human Genetics Administration comprises a five strong team that provides comprehensive support for the smooth running of the Human Genetics ...

Science group

Human Genetics Informatics (HGI)

Human Genetics

Human Genetics Informatics (HGI) supports the scientific aims of the Human Genetics programme by developing and operating computational analysis workflows, managing ...

Science group

Martin Group

Medical and population genomics

We analyse large-scale genetic and phenotype data to explore the genetic architecture of rare and common diseases and related quantitative traits. ...

Science group

Barrett Team

Medical Genomics

The Barrett team studied how genetic variation affects risk for diseases, and finds ways to apply that knowledge to improve ...

Science group

High throughput gene editing

Cellular Operations

The High Throughput Gene Editing team helped to deliver the gene editing requirements of the Institute's faculty and research

Wellcome Sanger Institute

Programmes and Facilities

Programme

Health Data Research UK (HDR UK)

The Health Data Research (HDR) UK Cambridge site is part of the national institute for health data science (HDR UK) ...

Programme

Human Genetics

The Human Genetics Programme is driving a step-change in our understanding of genetic causes and biological mechanisms of disease susceptibility and ...

Programme

Open Targets

Founded in 2014, Open Targets is an innovative public-private partnership that uses human genetics and genomics data for systematic drug target ...

Partners

We work with the following groups

External

Health Innovation Challenge Fund

The DDD and PAGE studies are funded by the Health Innovation Challenge Fund, a parallel funding partnership between the Wellcome Trust and the Department of Health to stimulate the creation of innovative healthcare products, technologies and interventions and to facilitate their development for the benefit of patients in the NHS and beyond.

External

Wellcome Trust

Biomedical charity that funds most of our science

Publications

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