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Neurology Research Groups

Rinaldi Group

Research Aims & Objectives

I am a Clinician-Scientist with a keen interest in the application of genetic knowledge to benefit human health.

This goal is pursued through three strategic aims:

(1) Identification of new genes associated with neurological diseases;

(2) Uncovering the molecular principles of disease pathogenesis;

(3) Development of RNA-based technologies to treat hereditary neurological conditions.

Details of research interests

My lab uses a multidisciplinary approach, combining 3D stem cell and animal modelling, advanced microscopy, and integrated genomic characterization (e.g.: using RNA-seq and ChIP-seq data), to study neuromuscular diseases with high unmet clinical need, such as spinal and bulbar muscular atrophy (SBMA), spinal muscular atrophy (SMA), and myotonic dystrophy type 1 (DM1).

We seek to understand how disease genes affect globally the homeostasis of the motor unit and cause harm to motor neurons and muscle. We are particularly interested in elucidating the biological mechanisms that regulate post-transcriptional RNA processing such as RNA editing, alternative splicing, and polyadenylation, which result in increased transcriptome complexity and proteome diversification and are critical for survival.

How knowledge generated from uncovering these mechanisms of regulation can be harnessed to develop gene therapy approaches to treat these devastating conditions is another major focus of the lab. In order to achieve this goal, we employ next-generation antisense oligonucleotide technology and engineer improved Cas13 effectors for targeted approaches.

We encourage and celebrate inclusivity, innovation, and entrepreneurship and care about maximising the impact of our work for societal benefit.

Group Leader

Carlo Rinaldi

Group Members

Post-doctoral researchers:

  • Dr Wooi (Catheryn) Fang Lim
  • Dr Antonio Garcia Guerra

Research Assistants:

  • Ruth Ellerington

PhD Students:

  • Anna Kordala (DPhil)
  • Muhammad Hanifi (DPhil)
  • Alfina Ambra Speciale (DPhil)
  • George Buss (MRes)

Funders

  • The Wellcome Trust
  • Muscular Dystrophy Association
  • Medical Research Council
  • AFM-Téléthon
  • Kennedy’s Disease Association
  • John Fell Fund

Public Engagement

Mechanisms of pathogenesis and molecular targets in spinal and bulbar muscular atrophy’, in The Biomedical & Life Sciences Collection, Henry Stewart Talks Ltd, London.

‘Muscle Switch!’, a video-game activity developed in collaboration with K-Invent, soon to be presented in schools and science festivals around the UK.

Recent Publications

Publications Directory

Contact Information

carlo.rinaldi(at)paediatrics.ox.ac.uk

Social Media

@rinaldi_ca

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