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We have 33 rare disease PhD Projects, Programmes & Scholarships PhD Projects, Programmes & Scholarships
rare disease PhD Projects, Programmes & Scholarships PhD Projects, Programmes & Scholarships
We have 33 rare disease PhD Projects, Programmes & Scholarships PhD Projects, Programmes & Scholarships
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Mining data from National genomics Research Library to enable new gene discovery
Whole Genome Sequencing (WGS) is a new genomic testing technology and process which became available through the NHS in April 2022. Read more
Understanding disease mechanisms in autoimmune inflammatory muscle disease
The idiopathic inflammatory myopathies are a spectrum of rare autoimmune disorders characterized by inflammation of muscle tissue (myositis), which leads to muscle weakness and fatigue, and heterogeneous systemic organ involvement. Read more
Examining the potential of environmental DNA analysis and enhanced biosecurity for the management of Zoonotic Iceberg Diseases on Sheep Farms
Iceberg diseases are a group of five untreatable wasting diseases which cause significant losses to the sheep industry. Read more
Investigating the oligogenic model of Amyotrophic Lateral Sclerosis (ALS; motor neuron disease, MND)
Research Group:
Neuroscience
Applications are invited for a multidisciplinary PhD studentship funded by the Motor Neurone Disease Association to study the cumulative contribution of coinherited subthreshold amyotrophic lateral sclerosis (ALS) risk gene variants in the development of cellular hallmarks of ALS pathology. Read more
Disease-specific mechanisms of gene disruption in rare predisposition syndromes
Chromatin remodelling complexes contains multiple subunits, which combine to activate and repress transcription of various target genes throughout the genome. Read more
The role of rare genetic variants in fibrosis
Project Highlights. Improve our understanding of the biology behind a major contributor to world-wide deaths. Use large datasets and novel statistical methods. Read more
Big data and artificial intelligence in inflammatory bowel disease; personalising care through genomics, prediction, and clinical data integration
This PhD will use computer science and programming skills to integrate ‘Big data’, digital healthcare records and genomics, to develop and test tools that guide clinical decisions for patients with inflammatory bowel disease. Read more
Exploring how genetic variation drives craniofacial diversity and disease
We are excited to advertise this Edinburgh Doctoral College Scholarship for the Institute of Genetics and Cancer. . Further details of the scheme and application process can be found at. Read more
The role of vimentin in cell adhesion and motility in disease
This role supports an active research program to assess the molecular mechanisms underlying adhesive, mechanical and motile changes in cells as they relate to vimentin, the intracellular protein, and its assembled filamentous form in vimentin intermediate filaments. Read more
Characterising congenital heart disease variants in Drosophila
Congenital heart disease (CHD) is the most common congenital defect affecting approximately 1% of live births contributing to a significance incidence of birth-defect related mortality. Read more
Structural and functional investigation of the protein C19orf12 involved in the neurodegenerative disease MPAN
A doctoral student position is available to work with. Dr. Ana Messias. and. Prof. Michael Sattler. , at the . Institute of Structural Biology. Read more
Ambulatory monitoring of Raynaud’s phenomenon and systemic sclerosis associated microcirculation
Systemic sclerosis (SSc), a microvascular autoimmune disease, causes damage to the small blood vessels (microvasculature). Although rare it has the highest mortality of all rheumatological conditions and causes significant morbidity. Read more
The Sheffield Children’s Hospital/Insigneo Institute for In Silico Medicine PhD Programme in Digital Health: Advanced Healthcare Communication
Supervisor(s). Professor Jim Wild (representing a team of potential supervisors from Insigneo) and Professor Paul Dimitri (representing a team of potential supervisors from SCH). Read more
The Sheffield Children’s Hospital/Insigneo Institute for In Silico Medicine PhD Programme in Digital Health: Digital Healthcare at Home
Supervisor(s). Professor Jim Wild (representing a team of potential supervisors from Insigneo) and Professor Paul Dimitri (representing a team of potential supervisors from SCH). Read more
The Sheffield Children’s Hospital/Insigneo Institute for In Silico Medicine PhD Programme in Digital Health: Digital Twins
Supervisor(s). Professor Jim Wild (representing a team of potential supervisors from Insigneo) and Professor Paul Dimitri (representing a team of potential supervisors from SCH). Read more