Integrative analysis of whole genomes and transcriptomes from multiple cell types in rare disease patients. MRC GW4 BioMed DTP PhD studentship 2025/26 Entry,

About the GW4 BioMed2 Doctoral Training Partnership

The partnership brings together the Universities of Bath, Bristol, Cardiff (lead) and Exeter to develop the next generation of biomedical researchers. Students will have access to the combined research strengths, training expertise and resources of the four research-intensive universities, with opportunities to participate in interdisciplinary and ‘team science’. The DTP already has over 90 studentships over 6 cohorts in its first phase, along with 58 students over 3 cohorts in its second phase.

Project Information

Research Theme:

Neuroscience & Mental Health

Summary:

This multi-disciplinary project combines cutting-edge molecular cell biology, neurobiological, and biochemical (lipid analysis) approaches to reveal novel links between organelle membrane proteins, lipid metabolism, and neurodegenerative disorders. It will unveil new basic biological and biomedical principles, the properties and functions of novel lipid-binding proteins, and new avenues to improve lipid uptake for the treatment of neurodegenerative disorders.

Main Description: 

Adrenoleukodystophy (ALD, X-ALD) is a severe neurodegenerative disease, a hereditary condition which results in damage to the membranes that insulate nerve cells in the brain. The birth incidence of ALD is estimated at 1:14,000 and patients suffer from a variety of debilitating symptoms including progressive demyelination and adrenal insufficiency. This can lead to chronic fatigue, hearing and visual impairment, and seizures with rapid degeneration to a vegetative state.

The severity and onset of symptoms can vary and the disease, despite being X-linked, can also manifest in carrier females in later life. ALD is caused by mutations in the ALDP gene which encodes a lipid transporter on peroxisomes, which are sub-cellular organelles with key functions in the processing of a range of lipid species including those required for proper function of neuronal membranes. Mutations in ALDP affect transport of lipids into peroxisomes, compromising lipid processing.

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