rare disease PhD Projects, Programmes & Scholarships for Self-funded Students

Using artificial intelligence and machine learning techniques to improve diagnosis and predict outcomes in children with heart muscle disease.

Great Ormond Street Hospital for Children NHS Trust GOSH BRC Applied Child Health Informatics Theme (Non-Clinical) PhD Studentships

Paediatric cardiomyopathies, or heart muscle diseases, are a group of rare and heterogeneous conditions with highly variable outcomes. Read more

Supervisors: Dr JPK Kaski, Dr G Norrish

15 May 2024 PhD Research Project Funded PhD Project (UK Students Only)

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Study of early pathological changes in calcified cartilage in osteoarthritis and alkaptonuria

University of Liverpool Institute of Ageing and Chronic Disease Department of Musculoskeletal Biology

We are seeking a motivated individual to work on this exciting project investigating the role that the calcified cartilage has in rare and common joint osteoarthritis, using novel approaches such as gene silencing and establishment of a 3D chondrocyte cell culture model. Read more

Supervisor: Dr JH Hughes

10 May 2024 PhD Research Project Funded PhD Project (UK Students Only)

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(MRC DTP CASE) Understanding Disease Management and Outcomes for Myositis Patients: An International Real-World Study Utilising Multiple Data Sources to Investigate Treatment Patterns, Health-Related Quality of Life, Clinical Outcomes, and Burden of Illness for Patients With Rare Autoimmune Disease

The University of Manchester Faculty of Biology, Medicine and Health

Myositis is a group of rare conditions which present with physical symptoms that can significantly impact a patient’s life. Many patients are permanently disabled due to irreversible muscle damage. Read more

Supervisors: Dr H Chinoy, Dr AO Oldroyd

13 May 2024 PhD Research Project Competition Funded PhD Project (UK Students Only)

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GOSH BRC Applied Child Health Informatics Theme (Non-Clinical) PhD Studentships

Great Ormond Street Hospital for Children NHS Trust

An exciting non-clinical PhD opportunity at the NIHR Great Ormond Street Hospital Biomedical Research Centre (NIHR GOSH BRC) is open for applications. Read more

Funded PhD Programme (UK Students Only) PhD Opportunities

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Optogenetic sculpting of next-generation organoids for disease modelling of congenital malformations including spina bifida

Great Ormond Street Hospital for Children NHS Trust BRC Translational Research (Non-Clinical) PhD Studentships

The ability to generate human induced pluripotent stem cells (iPSC) from adult cell types has revolutionised regenerative medicine research. Read more

Supervisors: Dr G Galea, Prof J Sowden

15 May 2024 PhD Research Project Funded PhD Project (UK Students Only)

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Disease modelling to understand long-term progression and treatment response in Spinal Muscular Atrophy and Duchenne Muscular Dystrophy.

Great Ormond Street Hospital for Children NHS Trust GOSH BRC Applied Child Health Informatics Theme (Non-Clinical) PhD Studentships

This project addresses the urgent medical need to collect and analyse big data sources. on the natural history disease progression of children with Spinal Muscular Atrophy (SMA) and Duchenne Muscular Dystrophy (DMD). Read more

Supervisors: Dr G Baranello, Dr D Ridout

15 May 2024 PhD Research Project Funded PhD Project (UK Students Only)

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Mining data from National genomics Research Library to enable new gene discovery

University of Sheffield School of Medicine and Population Health

Whole Genome Sequencing (WGS) is a new genomic testing technology and process which became available through the NHS in April 2022. Read more

Supervisor: Dr M Balasubramanian

Year round applications PhD Research Project Self-Funded PhD Students Only

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Development of a novel automatised platform for drug discovery in relevant human tissue models

University College London UCL Great Ormond Street Institute of Child Health

A 4-year funded PhD studentship is available in the UCL GOS Institute of Child Health “Developmental Biology and Cancer” department. Read more

Supervisors: Dr D Stoyanov, Prof P De Coppi, Dr GGG Giobbe

Year round applications PhD Research Project Funded PhD Project (UK Students Only)

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Using genome sequencing to find the cause of undiagnosed rare conditions affecting bowel, heart, lung or brain in adults

University of Sheffield School of Medicine and Population Health

In the UK, a rare condition is one that affects fewer than 1/2000 people. Around 70% of rare conditions have a genetic cause (ie are caused by a change… Read more

Supervisor: Dr A McNeill

Year round applications PhD Research Project Self-Funded PhD Students Only

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Identifying variants impacting splicing of 5’ and 3’ UTRs and underpinning inherited retinal disease

The University of Manchester Faculty of Biology, Medicine and Health

Genomic variation that impacts splicing is well established as a cause of genomic disorders, but is almost exclusively limited to protein-coding exons and introns intersecting protein-coding exons. Read more

Supervisors: Dr J Ellingford, Prof R O'Keefe

15 June 2024 PhD Research Project Funded PhD Project (UK Students Only)

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Understanding how to target the T cell compartment within related brain tumours

The University of Manchester Faculty of Biology, Medicine and Health

T cell-based immunotherapy has revolutionised the treatment of many different types of cancer. However, to date, these treatments have not been successful or widely used for the treatment of brain tumours. Read more

Supervisors: Dr K Couper, Prof D Brough, Dr OP Pathmanaban

Year round applications PhD Research Project Self-Funded PhD Students Only

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Gene therapy for neuromuscular diseases

Royal Holloway, University of London School of Biological Sciences

We are accepting candidatures for PhD students enthusiastic about finding cures for neuromuscular diseases or willing to explore and learn gene therapy technologies using models of neuromuscular diseases. Read more

Supervisor: Dr AB Malerba

Year round applications PhD Research Project Self-Funded PhD Students Only

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Exploring a novel neurodevelopmental disease gene using a zebrafish model

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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Novel disease genes in brain development and decline

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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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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We have 38 rare disease PhD Projects, Programmes & Scholarships for Self-funded Students

rare disease PhD Projects, Programmes & Scholarships for Self-funded Students

We have 38 rare disease PhD Projects, Programmes & Scholarships for Self-funded Students

Using artificial intelligence and machine learning techniques to improve diagnosis and predict outcomes in children with heart muscle disease.

Study of early pathological changes in calcified cartilage in osteoarthritis and alkaptonuria

(MRC DTP CASE) Understanding Disease Management and Outcomes for Myositis Patients: An International Real-World Study Utilising Multiple Data Sources to Investigate Treatment Patterns, Health-Related Quality of Life, Clinical Outcomes, and Burden of Illness for Patients With Rare Autoimmune Disease

GOSH BRC Applied Child Health Informatics Theme (Non-Clinical) PhD Studentships

Optogenetic sculpting of next-generation organoids for disease modelling of congenital malformations including spina bifida

Disease modelling to understand long-term progression and treatment response in Spinal Muscular Atrophy and Duchenne Muscular Dystrophy.

Mining data from National genomics Research Library to enable new gene discovery

Development of a novel automatised platform for drug discovery in relevant human tissue models

Using genome sequencing to find the cause of undiagnosed rare conditions affecting bowel, heart, lung or brain in adults

Identifying variants impacting splicing of 5’ and 3’ UTRs and underpinning inherited retinal disease

Understanding how to target the T cell compartment within related brain tumours

Gene therapy for neuromuscular diseases

Exploring a novel neurodevelopmental disease gene using a zebrafish model

Novel disease genes in brain development and decline

Disease mechanisms in the heart

We have 38 rare disease PhD Projects, Programmes & Scholarships for Self-funded Students

rare disease PhD Projects, Programmes & Scholarships for Self-funded Students

We have 38 rare disease PhD Projects, Programmes & Scholarships for Self-funded Students

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