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We have 13 Human Genetics PhD Projects, Programmes & Scholarships in Manchester
Human Genetics PhD Projects, Programmes & Scholarships in Manchester
We have 13 Human Genetics PhD Projects, Programmes & Scholarships in Manchester
Investigating monogenic disorders of the protein synthesis machinery
Translation of mRNA into proteins is a critical cellular biological process. We recently described a novel human disorder, now called Faundes-Banka Syndrome (FABAS), caused by heterozygous variants in EIF5A1 that encodes a translation factor. Read more
Diagnostics for FMF patients and carrier survival in pandemics
Background. Familial Mediterranean Fever (FMF) is a rare inherited genetic disease where patients acquire a mutation on the pyrin gene leading to excessive inflammasome activation and excessive inflammation. Read more
Unravelling complex somatic genomic variations: advancing early diagnostics and precision medicine
Complex somatic structural variations (SVs) in genomic regions such as centromeres and telomeres play a crucial role in driving many genetic disorders. Read more
Investigating disease causal pathways and opportunities for targeted prevention
Background. Understanding disease causal pathways plays a pivotal role in the development of preventative intervention. Read more
(BBSRC NWD) Novel micro-vessel bioengineering using iPSCs to study genetic variants on small vessel function
A healthy vascular system is essential for the proper function of organs in the human body. Small blood vessels like arterioles are central in controlling blood flow, blood pressure, and regulate the blood flow entering various organs via capillary networks. Read more
Mechanistic analysis of neurodevelopmental disorders caused by mutations in the gene RAC1
RAC1 is a signalling protein that regulates many cellular processes and is essential during embryonic development. We recently discovered a novel genetic disease called RAC1-related neurodevelopmental disorder (RAC1-NDD) that results from mutations in the RAC1 gene. Read more
Comparative investigations into proton and photon radiation in chromosomal instability- and telomere spectrum disorders
Chromosomal instability- and telomere spectrum disorders (CITSDs), such as Bloom syndrome (BS), Fanconi anaemia (FA), or Dyskeratosis Congenita (DKC) are inherited conditions with congenital and developmental abnormalities and impaired ability to maintain chromosomal integrity. Read more
Investigate the novel therapeutic potential for treating heart failure in diabetes.
Heart failure is the most common cause of mortality in diabetes patients, but current diabetes therapies have a limited impact on the incidence of heart failure in diabetic populations. Read more
Molecular pathogenesis and treatment of obesity/diabetes-associated heart disease: The insight into mechanisms and therapeutic potentials
Both the number of cases and the prevalence of obesity/diabetes are increasing globally. Cardiovascular complications are the leading causes of diabetes mortality. Read more
VariantCurator: A “spell-checker” for genomic variant data that will improve diagnostic rates by improving the accuracy of genetic data in clinical literature and increasing the findability of data in historic literature
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
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.
Rare diseases affect. This proposal builds on substantial efforts of a Human Genome Organization committee which has proposed a unified professional-standard for representing genomic data which, when finalised, will be adopted world-wide. Read more
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
Rare diseases affect. This proposal builds on substantial efforts of a Human Genome Organization committee which has proposed a unified professional-standard for representing genomic data which, when finalised, will be adopted world-wide. Read more
Delineating the IRF6 regulatory network driving periderm formation and function
During development, the ectoderm passes through a series of cell states to produce a self-replenishing, multi-layered epidermis. Initial stratification forms a single-cell layer of flattened periderm cells which act as a barrier to prevent pathological adhesions during embryogenesis. Read more
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