Research we fund – Identifying Therapeutic Targets

Here you can find more information about the projects we are funding that are investigating therapeutic targets. Click on a project to find out more information and what the project means to a person living with MND.

These projects aim to understand the causes of MND and focus in on the pivotal biochemical processes involved in the disease that will provide a starting point for the development of new treatments.

Developing AAV-GRN gene therapy for Motor Neuron Disease

Dr Younbok Lee

To understand some of the mechanisms that are altered in the brain and spinal cord in MND and determine if a specific group of proteins (GRNs) can protect from motor neuron death.

The role of ALS-associated RNA binding proteins in axonal reinnervation and ALS pathogenesis 

Dr Nicol Birsa

To investigate how protein production disruption, caused by FUS, can alter the function of nerve cells.

Identifying the early biochemical signature of MND

Dr Alex Thompson

To investigate MND related genetic changes in the nervous system that occur before the start of MND symptoms.

Capturing cell-type specific miRNA deregulation in MND using human stem cell models

Dr Hamish Crerar

To investigate whether molecules known as miRNA are affected in MND and if they are a cause or consequence of the disease.

Natural and synthetic chaperones for SOD1-related MND

Dr Gareth Wright

To investigate misfolded SOD1 - structures, potential drug molecules that can help it fold properly and synthetic proteins which could help to recognize and remove it.

Glial engulfment of human synapses in MND

Dr Zsofia Laszlo

To uncover the link between activated glial cells and synapse loss in MND.

Longitudinal mult-omics of host-microbe dynamics in ALS

Prof Chris McDermott

To determine if gut bacterial influence the development and severity of ALS and combine measures of gut bacteria with genetic sequencing of participants genomes.

Role of axonal transport in cell models carrying MND mutations

Dr Andrew Tosolini

To establish whether axonal transport deficits in fast motor neurons are a general feature of MND, by comparing different MND models, including rodent and human motor neurons.

MND's next top model: evaluating iPSC models by protein aggregates 

Dr Dezerae Cox

To evaluate whether current cell models of MND accurately reflect the disease in humans by using imaging techniques to observe protein aggregation.

Understanding the role of NEAT1 in MND

Dr Tatyana Shelkovnikova 

Investigating how NEAT1 and paraspeckle structures might modulate the toxicity seen in motor neurons in MND and shed new light on the role they play in the disease.

TDP-43 and p62 in MND-FTD: when a molecular handshake goes wrong 

Dr Daniel Scott

To understand more about the interaction between TDP-43 and p62 and the effects it may have on the function of motor neurons.

Investigating ALS as a disease of the Tripartite Synapse

Dr Gareth Miles

To assess how and when tripartite synapses are affected in MND and to be able to identify contributing factors to changes seen.

Investigating the role of NEK1 in MND

Dr Kurt De Vos/Natalie Pye

To understand more about how a loss of function of NEK1 protein may contribute to the development of MND.

Targeting ALS-dysregulated microRNAs in astrocytes

Prof Rob Layfield

To investigate the impact of a naturally occurring biomolecule known as miR-340 on other proteins known to have a role in MND.

Role of immune-related autophagy and inflammation in C9MND/FTD

Dr Kurt De Vos

To establish the role of C9orf72 in immune-related autophagy and related inflammatory responses, and to determine its possible involvement in C9MND/FTD.

Understanding RNA dysfunction using novel RNA-seq technologies 

Dr Pietro Fratta/Samuel Bryce-Smith

To gain a better understanding of the underlying mechanisms of the faulty TDP-43 and FUS proteins and how they might drive the disease.

Functionally characterising changes in 'non-coding' regions of DNA

Dr Jonathan Cooper-Knock/Calum Harvey

To investigate 'non-coding' regions of DNA, which are stretches of DNA that don’t carry instructions to make proteins, to look for more clues into the genetic causes of MND.

The impact of TDP-43 on translation and the response to axonal damage in ALS

Dr Pietro Fratta

The aim of this project is to discover how TDP-43 impacts a motor neurone’s response to damaged axons and how this implicated in MND.

Molecular mechanism of disease onset in TDP-43 proteinopathies

Dr Frank Hirth/TBC

To investigate if the activation of a immune response pathway, caused by C9orf72 mutation and TDP-43 clumps, is characteristic of pre-symptomatic phase of MND.

Investigating early protein translation deficits in mouse/iPSC models

Dr Pietro Fratta

Investigating models of a type of MND caused by mutations in the FUS gene to understand what goes wrong in motor neurones.

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More projects coming soon!

The research team are hard at work adding more research projects the MND Association funds to these pages. Come back later to learn about more projects and researchers we fund.

 

For further information and support contact our MND Connect helpline

mndconnect 0808 802 6262