Welcome to the third episode of Between the Signals, a podcast brought to you by the UK Dementia Research Institute at King’s College London. In this episode, we explore how fundamental research gets turned into medicine.

Join Dr Sarah Mizielinska as she speaks with Professor Chris Shaw, whose experience as a clinician and medical doctor has driven his scientific research. His work focuses on gene discoveries in a hereditary form of motor neuron disease (MND) and how to translate that knowledge into developing treatments for neurodegenerative conditions such as MNDand frontotemporal dementia (FTD). Hear more on the latest cutting-edge research happening at the UK DRI, from understanding how molecules move around cells to developing new gene therapies.

Whether you're living with one of these conditions, are a carer, researcher, or simply curious about neuroscience, this conversation provides insights into these complex conditions and hope for new treatments on the horizon.

Episode 3 definitions

Progranulin

Progranulin is a secreted, multifunctional protein encoded by the GRN gene. Loss-of-function mutations in the Progranulin gene are a major cause of frontotemporal dementia.

Glial Cells

Glial cells or glia are non-neuronal cells in the brain and spinal cord. They provide structural support, insulation, immune defence, and nutrients/oxygen for neurons.

Chromosome

A chromosome is a package of DNA containing part or all of the genetic material of an organism. Humans have 23 pairs of chromosomes containing all our genetic information.

Mutation

Mutations in the context of neurodegeneration refer to changes in the DNA that can affect how a protein is made, where in the cell it is located or how it behaves. In neurodegenerative conditions mutations often lead to protein accumulation or loss of function.

Genetic risk factor

Genetic risk factors are inherited variations or mutations in DNA that increase a person's risk of developing a disease. These factors are often identified through family history, and they are not a guarantee that a person will get sick. Environmental factors also play a key role.

Pathology

Pathology is the study of disease. In the context of research, it can also refer to the typical manifestation of an illness. For example, the pathology of frontotemporal dementia includes the shrinking of specific brain regions (frontal and temporal lobe).

Therapeutics

The word therapeutic(s) refers to a treatment, therapy or drug in the context of disease research. In this episode the therapeutic discussed is the delivery of a missing protein to the brain with the help of a virus.

For more detailed information about any of the conditions mentioned, visit:

Frontotemporal dementia: https://www.ukdri.ac.uk/conditions/frontotemporal-dementia

Motor neuron disease: https://www.ukdri.ac.uk/conditions/m

Learn more:

📚 UK DRI website: www.ukdri.ac.uk

🔬 UK DRI at King's: https://www.ukdri.ac.uk/centres/kings...

📧 Newsletter: tinyurl.com/ukdri-newsletter

Find us on: bsky, LinkedIn and YouTube