Institute of Genetic Medicine

Neuromuscular Disease

Neuromuscular Disease

At the John Walton Muscular Dystrophy Research Centre we're performing world class translational research to bring diagnosis, care and therapy to people with neuromuscular disease.

Research

Our team brings together Newcastle University and its associated hospitals in the development and application of genomic and translational medicine. We aim to improve the health outcomes of people living with neuromuscular diseases.

 

Teaching

The John Walton Muscular Dystrophy Centre provides key compulsory and optional modules on the Neuromuscular Diseases MRes.

The John Walton Muscular Dystrophy Centre provides key compulsory and optional modules on the Neuromuscular Diseases MRes.

Our research-based MRes in Neuromuscular Diseases has a taught component that is the same as an MSc. It provides a springboard into a career that involves a working knowledge of scientific research and enables a seamless 4-year MRes/PhD programme.

Our modules bring together the expertise held within the Centre with key invited guest lecturers to offer a unique and high level learning experience, encompassing insights into translational research in neuromuscular diseases at the highest level. Interest in the module is been high, and feedback from students overwhelmingly positive

Expertise

Principal investigatorExpertise
Prof Volker Straub Paediatric neurology/Neuromuscular research
 Prof Rita Horvath  Nuclear genes in mitochondrial disease
 Prof Katie Bushby  Paediatric neurology/Neuromuscular research
 Dr Michela Guglieri  Clinical research lead 
 Dr Chiara Marini Bettolo  Clinical care lead
 Dr Anna Topf  Basic research lead 
 Dr Rita Barresi  Diagnostics lead 
 Ms Emma Heslop  Strategic partnerships and networking lead 

 

 

Staff

Dr Alison Blain
Research Associate

Email:
Telephone: +44 (0) 191 241 8833

Joanne Bullivant
Myotubular Myopathy Patient Registry Project Manager

Email:
Telephone: +44 (0)191 241 8640

Sarah Cowlard
Admin Assistant

Email: Sarah.cowlard@nuth.nhs.uk
Telephone: +44 (0) 191 241 8853

Daniel Cox
JWMDRC Biobank Manager & Senior Research Technician

Email:

Rebecca Crow
Clinical Research Project Manager

Joanna Das
EURO-NMD Project Assistant

Katherine Frith
Clinical Research Administrator

Liz Greally
Research Assistant

Email:
Telephone: +44 (0) 191 241 8833

Dr Michela Guglieri
Research Fellow/Honorary Consultant

Email:
Telephone: +44 (0) 191 241 8606

Michael Hails
Web Development Officer

Email:
Telephone: +44 (0) 191 241 8659

Louise Hastings
Nurse Specialist in Neuromuscular Genetics

Email: Louise.hastings@nuth.nhs.uk
Telephone: +44 (0) 191 241 8736

Victoria Hedley
Rare Disease Policy Manager

Email:
Telephone: +44 (0)191 241 8624 (Direct)

Emma Heslop
DMD Clinical Research Hub Manager

Email:
Telephone: +44 (0) 191 241 8621

Heather Hilsden
Project Manager Jain Foundation Natural History Study

Email:
Telephone: 241 8941

Professor Rita Horvath
Professor of Neurogenetics

Email:
Telephone: +44 (0) 191 241 8855

Lucy Imber
GNE Registry Curator

Email:
Telephone: 0191 241 8605

Dr Cecilia Jimenez Moreno
Research Associate

Email:
Telephone: +44(0)191 208 3017

Becca Leary
EURO-NMD Project Manager

Email:
Telephone: 8839

Joanne Lee
Post Marketing Registry Project Assistan

Dr Chiara Marini Bettolo
Associate Clinical Researcher

Dr Grace McMacken
Clinical Research Associate

Email:
Telephone: 01912418653

Dr Juliane Mueller
Research Associate

Email:
Telephone: +44 (0) 191 241 8818

Robert Muni Lofra
Neuromuscular Research Physiotherapist

Email: Robert.Muni-Lofra@newcastle.ac.uk
Telephone: +44 (0) 191 241 8865

Hannah Murray
International Liaison & Comms Assistant

Email:
Telephone: 0191 241 8839

Dr Nikoletta Nikolenko
Clinical Research Associate

Nicole O'Connor
SMA Education Co-ordinator

Email:
Telephone: 0191 241 8858

Avril Palmeri
RD-Connect Project Assistant

Email:
Telephone: +44 (0)191 241 8659

Anna Peel
Clinical Trials Co-ordinator

Email:
Telephone: 0191 241 8649

Dr Oksana Pogoryelova
Senior Research Associate

Email:
Telephone: +44 (0) 191 241 8640

Dr Amanda Robe-Bolam
Project Manager

Email:
Telephone: 0191 241 8858

Agata Robertson
Clinical Trials Co-ordinator

Email:
Telephone: 0191 241 8649

Susan Robinson
Administrator

Email: Susan.robinson@nuth.nhs.uk
Telephone: +44 (0) 191 282 0841

Michelle Sherriff
Administrative Assistant

Dr Sabine Specht
Senior Research Associate

Professor Volker Straub
Harold Macmillan Professor of Medicine

Email:
Telephone: +44 (0) 191 241 8655

Dr Ana Topf
Senior Research Associate

Email:
Telephone: +44 (0) 191 241 8653

Catherine Turner
DMD Programme Coordinator

Email:
Telephone: +44 (0) 191 241 8659

Megan Turner
Medical Secretary

Email: megan.turner@nuth.nhs.uk
Telephone: +44 (0) 191 241 8757

Sarah Urquhart
Vision-DMD Project Assistant

Email:
Telephone: +44 (0) 191 241 86 49

Dr Henriette van Ruiten
Clinical Research Associate

PhD Students

Meet our current PhD students.

StudentLead supervisor
Alex Murphy Prof Volker Straub
Emily O'Connor Prof Rita Horvath 
Grace McMacken Prof Rita Horvath 
Hannah Steele Prof Rita Horvath 
Matt Jennings Prof Rita Horvath 
Meredith James Prof Volker Straub
Persefoni Ioannou Prof Volker Straub

 

 

 

Contact

Do you want to find out more about Neuromuscular Disease?

Please contact theme representative Prof Volker Straub.