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genetic diagnosis PhD Projects, Programs & Scholarships

We have 24 genetic diagnosis PhD Projects, Programs & Scholarships

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We have 24 genetic diagnosis PhD Projects, Programs & Scholarships

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Genetics: Investigating the functional effect of novel genes and genetic variants in malignant hyperthermia susceptibility using model systems

Malignant hyperthermia (MH) is an inherited condition, where patients exposed to anaesthetic drugs are susceptible to a dramatic hyperthermic and hypermetabolic response that can contribute to a significant proportion of post-operative morbidity and deaths. Read more

Stem Cells: Developing pluripotent stem cell models of inherited retinal diseases

Inherited retinal dystrophies are a leading cause of blindness and visual loss in the UK working age population. However, despite the widespread diagnostic use of next-generation sequencing, a molecular genetic diagnosis is unavailable for many patients world-wide. Read more

Genetic testing for childhood cataract

About the research project -. https://www.utas.edu.au/our-research/research-degrees/available-projects/health-and-medicine/area/menzies-institute-of-medical-research/genetic-testing-for-childhood-cataract. Read more

Uncovering the genetic determinants of cirrhosis using genome-wide association methods (Ref: SHLS21088)

  Research Group: Sexual Health and Blood Borne Viruses
We are offering a fully-funded 3-year PhD studentship, suitable for an aspiring bioinformatician/biostatistician. The project aims to advance understanding of the genetic risk factors influencing development of cirrhosis and related outcomes. 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

Genetics: Investigating the molecular basis of optic nerve degeneration in glaucoma to try and develop a personalized medicine strategy for treatment

The optic nerve is a special sensory nerve that transmits visual impulses from the retina to the brain. Primary Open Angle Glaucoma (POAG) is a chronic, progressive optic neuropathy of multifactorial origin that affects 1 in 10 elderly individuals. Read more

Cancer biology: identification of new treatment options for EML4-ALK driven lung cancer through understanding mechanisms of cell division and migration.

Lung cancer is the largest cause of cancer-related deaths in the UK and worldwide. While little progress has been made in long-term survival rates, we now have a good understanding of the genetic drivers raising the prospect of earlier diagnosis and more effective treatments. Read more

Project 6: Flower, flora, fauna: can novel metrics of verbal fluency performance help detect individuals at risk of future cognitive decline?

Over 850,000 people are living with a dementia diagnosis in the UK. Whilst treatments to halt or reverse dementia-causing neurodegenerative disease are limited, the ability to detect individuals at risk of future cognitive impairment will help advance preventative strategies. Read more
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A Multi-disciplinary Approach to Investigating Canine Diffuse Large B Cell Lymphoma

To apply for this project please visit the LIDo website: . https://www.lido-dtp.ac.uk/apply. Diffuse large B‐cell lymphoma (DLBCL) represents the most common form of lymphoma in dogs (48%) and humans (40%) with an aggressive clinical course. Read more

Obtaining a genetic Diagnostic Yield via assessment of in-utero Scan findings prior to the introduction of SEquencing retrospectivelY (ODYSSEY) – a cohort study

  Research Group: Centre for Public Health
*Application closing date has been extended from 24 to 31 January 2022*. With the introduction of novel genomic technologies it is now possible to significantly shorten the diagnostic odyssey that children with rare disease and their parents endure. Read more

Accurate and Ultra-Sensitive DNA Mutation Detection by Nanopore Barcode Recording

Mutations of DNA within the genome are defining features of cancers, yet their accurate, quantitative, multiplexed detection with amplification-based methods is only possible above a threshold of tumour burden where sufficient material is available. 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

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