We have 27 rare disease PhD Projects, Programmes & Scholarships

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rare disease PhD Projects, Programmes & Scholarships

We have 27 rare disease PhD Projects, Programmes & Scholarships

Massively Parallel Interrogation of Insulin Receptor Function to Accelerate Diagnosis and Facilitate Translational Research

Project Background. Increasing next generation sequencing (NGS) in diagnostic laboratories means that rare variants in disease genes such as the INSR gene, encoding the insulin receptor, are being discovered at a rapidly increasing rate. 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

Curating Biomedical Ontologies with Modern AI Techniques

An ontology is a formal, explicit and shared representation of conceptual knowledge, varying from simple tree-like taxonomies and graph structured semantic networks to complicated modern OWL ontologies underpinned by Description Logics (DL). Read more

Gene therapy for neuromuscular diseases

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

Exploring a novel neurodevelopmental disease gene using a zebrafish model

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

Novel disease genes in brain development and decline

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

Disease mechanisms in the heart

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

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

Implementing state-of-the-art models to understand how blood cancer clones out-compete healthy stem cells and discovery targetable disease mechanisms

My lab focuses on myeloproliferative neoplasms (MPNs) – chronic blood cancers in which cancer-induced remodelling of the tumour microenvironment plays a major role in fuelling malignant progression and poor outcomes for patients. Read more

Genetic causes of novel neurodevelopmental disorders

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

Genetics: Genetic studies of developmental eye disorders to investigate genotype-phenotype correlations

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

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