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A simple test at birth could positively transform the life of 70 families per year in the UK and save the NHS £280 every minute.

It is a tragedy for a child to be diagnosed with a severe and disabling lifelong medical condition. But in addition to the child’s difficulties and suffering and the emotional cost to their family, such maladies can also create a significant financial cost to both the family and to society; whether due to the cost of treatments, the expense of medical equipment and home adaptations, or indeed the loss of a family’s productivity.

First UK pilot study of newborn screening for spinal muscular atrophy (SMA) launched in Oxford.

In the UK, every 5 days a baby is born with SMA. Treatments are available now. If these treatments are delivered at birth, these newborns have the best chance of living long and healthy lives. If treated later, when they are identified because of the symptoms, they may survive, but with a severe disability. So, for every 5 days that a newborn screening is delayed, a baby in the UK loses the chance of a brighter future. Oxford University is initiating a population-based newborn screening study in the Thames Valley. This study aims to make it possible to detect SMA within days of birth, before symptoms develop, so that any affected newborn can receive diagnosis and treatment at the earliest possible opportunity. We hope that it will pave the way for a national newborn screening that will save about 70 babies/year in the UK from disability.

Funding received for research into Motor Neuron Disease

A £210,000 donation from the Alan Davidson Foundation has been made to the Nuffield Department of Clinical Neurosciences to advance our world-leading research into Motor Neuron Disease. The funding will support a project manager to deliver an innovative research project using the genetic causes of MND to develop approaches to early diagnosis.

Angelman syndrome: first patient to receive potential therapy in Oxford

Things that seemed impossible, only a few years ago, are happening today. The first patient in Europe and one of the first in the world was injected with a potential treatment, GTX-102, in a phase I/II clinical trial in Oxford.

An opportunity for a physiotherapist to work with our team!

An exciting new opportunity has arisen for an experienced and dynamic physiotherapist to join the Oxford neuromuscular physiotherapy team at the Oxford Univeristy Hospitals Foundation Trust, including dedicated time to participate in neuromuscular research, working within the MDUK Oxford Neuromuscular Centre.

Promising discovery for treatment of neuromuscular diseases

Research led by Carlo Rinaldi and Catheryn Lim discovered that a naturally-occurring isoform of an androgen receptor can be used in therapy for spinal and bulbar muscular atrophy, and shows potential for other diseases.

The Duchenne Research Relay Team prove that ‘where there’s a Will, there’s a way’

On the 12th of August, the Duchenne Research Relay Team cycled to the MDUK Oxford Neuromusuclar Centre for a passing of the baton from the Centre's researchers to the relay team to fundraise for Duchenne Muscular Dystrophy.

Not a tea lady: The prime of Professor Dame Kay Davies

After almost 50 years at Oxford, Professor Dame Kay Davies is soon to retire – well…. mostly… Kay talks to Sarah Whitebloom about her early years at Somerville fresh out of state school, how she balanced motherhood with the demands of her burgeoning career, and her long held passion to find a cure for Duchenne muscular dystrophy. Thank you Kay for your long years of service and dedication. You are truly an inspiration to many!

MDUK ONMC Town and Gown Team smashes fundraising target

On the 27th of June, the MDUK Oxford Neuromusuclar Centre Town and Gown Team once again embarked on the beautiful 10km course around Oxford city centre in MDUK’s first socially distanced run.

Why we must expand newborn screening

Early diagnosis is of primary importance both to obtain the best effect of innovative medications and to accelerate their development, writes Professor Laurent Servais.

Ancient gene mutation found to cause rare hereditary condition

UK scientists have found that a 7,000-year-old genetic mutation is responsible for a rare form of hereditary motor neuropathy (HMN).

University spinout PepGen awarded major financing to target Duchenne muscular dystrophy

PepGen, a therapeutics company targeting severe neuromuscular diseases, including Duchenne muscular dystrophy (DMD), has closed a $45 million Series A funding round led by RA Capital Management with participation from Oxford Sciences Innovation (OSI), the company’s original seed investor.

MDUK ONMC Professor, Angela Russell, awarded the 2021 Harrington UK Rare Disease Scholar Award

The Harrington Discovery Institute (HDI) in the US has announced five winners of its inaugural UK Rare Disease Scholar Award competition, including a key investigator of the MDUK Oxford Neuromusuclar Centre, Professor Angela Russell.

Two MDUK ONMC professors honoured by the Academy of Medical Sciences

The Academy of Medical Sciences, the independent body in the UK representing the diversity of medical science, has announced the election of fifty new Fellows, including two academics from the MDUK Oxford Neuromuscular Centre.

Seminar Summary: Unravelling the inflammatory neuropathies

Dr Alexander Davies summarises a departmental seminar by Dr Simon Rinaldi

The MDUK Oxford Neuromuscular Centre's First Annual Scientific Meeting

The Centre hosted a very successful first annual scientific meeting on 12 February 2020 at St Anne’s College, Oxford, including all research groups in the Centre as well as a panel of international experts in the field.

Russell group research reveals molecular target of the Utrophin modulator Ezutromid

A collaboration between the Russell group (Chemistry and Pharmacology) and the Davies group (Physiology, Anatomy and Genetics) has identified, via a chemical proteomics and phenotypic profiling strategy, the arylhydrocarbon receptor (AhR) as the molecular target of ezutromid, the utrophin modulator that recently completed a Phase 2 clinical trial in Duchenne muscular dystrophy patients.

A new research centre tackles neuromuscular diseases

General

The launch of the MDUK Oxford Neuromuscular Centre marks an exciting new stage in the partnership between Muscular Dystrophy UK and the University of Oxford, with the goal of delivering new experimental medicines and developing enhanced clinical trial capacity in adult and paediatric neuromuscular diseases.

First steps towards treating myotonic dystrophy type 1

Collaborative research between teams from the Department of Paediatrics and the Institut de Myologie shows how antisense oligonucleotides can penetrate muscles to treat myotonic dystrophy type 1, a rare muscle disease.

NHS England to fund Spinraza drug, treating children with Spinal Muscular Atrophy

Spinraza – the first treatment for the rare condition spinal muscular atrophy (SMA) – is set to be available for NHS use for children and adults with SMA Types 1, 2 and 3.

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