Funded Research Projects


Identification of microRNAs as biomarkers and potential therapeutic targets in spinal muscular atrophy

Principal investigator(s):
Professor Francesco Muntoni
Institute of Child Health, UCL, UK
Grant Type:
Operating Grant
Start Year:
2 years
Call number:

Professor Francesco Muntoni

Professor Francesco Muntoni, chair of paediatric neurology at University College London (UCL), was granted an SMA Europe award for the identification of microRNAs as biomarkers and potential therapeutic targets in spinal muscular atrophy.

In Focus

Biomarkers for sma

With promising therapies progressing through clinical development, there is an urgent need for molecular biomarkers in SMA. Biomarkers are medical indicators which show how disease is progressing or how well a therapy might be working. These therefore constitute valuable tools for clinical trials especially if they can be studied using minimally invasive procedures, such as taking a blood sample.

What are the researchers aiming to do?

This study will seek to identify specific biomarkers for SMA called microRNAs. These microRNAs are very small pieces of RNA (nucleic acids similar to the ones that genes are made of) used by cells to control which genes are turned on and off. These have been successfully used in an animal model of Duchenne Muscular Dystrophy and in boys affected by the same condition.

How will the researchers do this?

With this grant, the team will seek to:

  • Identify and characterise microRNAs which could serve as biomarkers in SMA.
  • To look at the role of microRNAs in the development of SMA and in the expression of the SMN gene.
  • To establish if microRNAs could be a target for therapeutic intervention.

About Professor Muntoni

Professor Francesco Muntoni is a Paediatric Neurologist with an interest in clinical, pathological and molecular aspects of neuromuscular disorders. He is also a deputy director of the UCL MRC Neuromuscular Translational Research Centre. His main areas of research have focused on the genetic heterogeneity of neuromuscular disorders, with the identification of more than 20 disease genes so far; and on translational research aspects related to neuromuscular disorders and in particular Duchenne muscular dystrophy and spinal muscular atrophy. His group led on the development of genetic therapies in Duchenne muscular dystrophy, with the first clinical trials using morpholino antisense oligonucleotide as genetic therapy for this condition. More recent work has also been focused on the use of antisense oligonucleotides in SMA.