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We have 40 rare disease PhD Projects, Programmes & Scholarships

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rare disease PhD Projects, Programmes & Scholarships

We have 40 rare disease PhD Projects, Programmes & Scholarships

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Disease mechanisms in the heart

University of Birmingham Institute of Cardiovascular Sciences
We are seeking talented, motivated students with a passion for research in inherited cardiac conditions (cardiomyopathies) and biomechanical stress signalling led by Dr Katja Gehmlich (https://www.birmingham.ac.uk/staff/profiles/cardiovascular-sciences/gehmlich-katja.aspx). Read more
 Supervisor: Dr K Gehmlich
 Year round applications  PhD Research Project  Self-Funded PhD Students Only
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Investigating the role of oxidative metabolites in joint destruction in osteoarthritis

University of Liverpool Institute of Life Course and Medical Sciences
We are seeking a motivated researcher to work on a pioneering project investigating the role of oxidative stress in alkaptonuria (AKU) and associated conditions. Read more
 Supervisors: Dr BN Norman, Dr JH Hughes, Prof G Bou-Gharios
 Year round applications  PhD Research Project  Self-Funded PhD Students Only
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Immune-dysregulation in chronic inflammatory muco-cutaneous disorders

Aberdeen University School of Medicine, Medical Sciences & Nutrition
This exciting PhD project provides a rare opportunity to discover novel mechanisms of immune-dysregulation in under-researched but clinically important… Read more
 Supervisors: Prof K Hijazi, Dr R Abu Eid, Prof D J Blackbourn
 18 May 2024  PhD Research Project  Funded PhD Project (Students Worldwide)
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Investigating the role of neutrophil-mediated tissue damage in a model of lupus nephritis

University of Liverpool Institute of Life Course and Medical Sciences
Systemic lupus erythematosus (SLE) is a rare autoimmune disease that affects around 5 million people worldwide. It disproportionately affects women and is incurable. Read more
 Supervisors: Dr HL Wright, Dr D Wilkinson, Dr D Turner
 Year round applications  PhD Research Project  Self-Funded PhD Students Only
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NIHR GOSH BRC Translational Research (Non-Clinical) PhD Studentships

Great Ormond Street Hospital for Children NHS Trust
The NIHR Great Ormond Street Hospital Biomedical Research Centre (NIHR GOSH BRC) PhD Studentship Programme aims to fund five highly motivated non-clinical PhDs students to support the training and development of the next generation of translational researchers. Read more
 Funded PhD Programme (UK Students Only)  PhD Opportunities
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Using big data to better define disease types and predict outcome in childhood myositis.

Great Ormond Street Hospital for Children NHS Trust GOSH BRC Applied Child Health Informatics Theme (Non-Clinical) PhD Studentships
Juvenile Dermatomyositis (JDM) is a rare serious childhood autoimmune disease presenting with muscle and skin inflammation, which can affect any organ, and carries burden of serious morbidity and even mortality. Read more
 Supervisors: Prof L Wedderburn, Prof MCB Cortina Borja, Dr M Wilkinson
 15 May 2024  PhD Research Project  Funded PhD Project (UK Students Only)
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Precision Therapy for NBAS-related disorder

University of Sheffield School of Medicine and Population Health
It is very well recognised that rare diseases offer the potential to uncover new information about mechanisms underlying a range of phenotypes. Read more
 Supervisor: Dr M Balasubramanian
 Year round applications  PhD Research Project  Self-Funded PhD Students Only
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Genetic causes of novel neurodevelopmental disorders

University of Otago Department of Biochemistry
The Rare Disorder Genetics / Bicknell lab is interested in characterising novel genetic syndromes, with three core motivations. -the difference we can make to families with rare disorders, through providing them with more information. Read more
 Supervisor: Assoc Prof L Bicknell
 Year round applications  PhD Research Project  Competition Funded PhD Project (Students Worldwide)
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Genetics: Genetic studies of developmental eye disorders to investigate genotype-phenotype correlations

University of Leeds Faculty of Medicine and Health
Developmental eye defects that affect the front of the eye give rise to a spectrum of congenital ocular phenotypes that affect the cornea, lens, iris, trabecular meshwork or the globe itself. Read more
 Supervisor: Dr M Ali
 Year round applications  PhD Research Project  Self-Funded PhD Students Only
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Utility of in silico prediction tools to aid variant interpretation

University of Dundee School of Medicine
Accurate variant interpretation represents is essential for the successful implementation of genetic testing in the clinical setting. Read more
 Supervisor: Dr P Newey
 30 June 2024  PhD Research Project  Self-Funded PhD Students Only
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The role of extracellular vesicles and intercellular signalling in inherited kidney cancer

Cardiff University Cardiff School of Medicine
This is a Self-Funded/Sponsored PhD opportunity. FUNDING REQUIRED. Full UK/EU or International Tuition Fees. UK Living Expenses. Bench Fees (£60,000 total). Read more
 Supervisor: Dr E Dunlop
 31 May 2024  PhD Research Project  Self-Funded PhD Students Only
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The role of NFIA fusion genes in erythroid leukaemia

Cardiff University Cardiff School of Medicine
It is clear that the process of haematopoietic (blood) development is ultimately coordinated by transcription factors, a view supported by the prevalence of transcription factor abnormalities found in leukaemia. Read more
 Supervisor: Prof A Tonks
 3 May 2024  PhD Research Project  Funded PhD Project (European/UK Students Only)
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VariantVisualiser: Ensuring precise diagnoses of genetic disorders through the development of intuitive software that facilitates the integration and visualisation of complex informatics with biological and clinical data.

The University of Manchester Department of Computer Science
Rare diseases affect <1-in-2,000 people, but ~8,000 rare genetic diseases impact ~10% of births globally. These arise from variations in patients’ DNA sequences. Read more
 Supervisors: Dr S Pettifer, Dr PF Freeman
 Year round applications  PhD Research Project  Self-Funded PhD Students Only
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(BRC) Nailfold capillary imaging in the idiopathic inflammatory myopathies (Non-Clinical)

The University of Manchester Faculty of Biology, Medicine and Health
The idiopathic inflammatory myopathies (IIMs) are rare conditions characterised by distinct clinical subtypes and varied multisystem involvement. Read more
 Supervisors: Dr A Murray, Dr H Chinoy, Dr J Lamb
 13 May 2024  PhD Research Project  Competition Funded PhD Project (UK Students Only)
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MScR: Cystic fibrosis: restoring ion transport with small molecules

University of Bristol School of Physiology, Pharmacology & Neuroscience
Cystic fibrosis (CF) is caused by dysfunction of the cystic fibrosis transmembrane conductance regulator (CFTR), a unique ATP-binding cassette transporter that functions as an ATP-gated anion channel, playing a pivotal role in salt and water movement across epithelial tissues (1). Read more
 Supervisor: Prof D N Sheppard
 Year round applications  PhD Research Project  Self-Funded PhD Students Only
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