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September 2024:

 

In SMA Europe’s ‘Shared Dreams’ Video, SMA Community members talk with leading researchers. They discuss how the research and treatment field has developed and the importance of dialogue between people living with the condition and researchers. SMA UK is an active member of SMA Europe and contributes charity funds towards research.

Newborn Genomes Programme – Genomics England

The Generation Study is a groundbreaking research study which will sequence the genomes of 100,000 newborn babies with SMA included on the list. The study is in partnership with the NHS to understand whether we can improve our ability to diagnose and treat genetic conditions.

July 2024: Is protein expression in skin cells (fibroblasts) a possible biomarker in SMA?

Biomarkers are medical indicators that can be measured to show the severity, progression and response to treatment of a condition. A recent study led by Professor Heidi Fuller at Keele University looked at the levels of different proteins found in skin cells (fibroblasts) taken from people with varying severities of SMA.

Report from the 4th International Scientific Congress on SMA

Our Scientific Research Correspondent Dr James Sleigh summarises some of the major findings presented at the 4th International Scientific Congress on SMA, organised by SMA Europe and held in Ghent, Belgium from 14th-16th March 2024. Over 1,000 scientists, clinicians and pharmaceutical company experts discussed diverse SMA-related topics covering recent laboratory-based work and clinical trial updates.

New Research Findings – The Amino Acid Diet (Webinar, Dec 2022)

Dr Graeme O’Connor (Research Lead for Dietetics at Great Ormond St Hospital) discusses the results of a recent pilot project, and the implications this may have for others, with Michaela Hollywood (a community member who has SMA Type 2).

Does Electrical Muscle Stimulation have an impact in SMA?

The electrical stimulation of muscles is thought to improve muscle weakness in some scenarios. What research is there into the impact for SMA?

Motor Unit Enlargement in People Who Have SMA

This four-year PhD-study, jointly funded by SMA UK and MDUK, aims to further understand this process and explore ways it might be addressed and improve treatment outcomes.

SMART Suit

A £1.25million grant from the People’s Postcode Lottery has enabled our partnership with Duchenne UK and the Inclusionaries Lab at Liverpool University to create a “SMART Suit” for people living with neuromuscular conditions.

Basic Research

Taking place in the laboratory, this continues to play a key role in furthering our understanding of the cause and biology of SMA. Investigations have led to the identification of the most effective strategies for drug discovery.