Mendelian randomisation is a technique which, fuelled by the results of GWA studies, can be used to determine causal relationships between intermediate phenotypes such as metabolite levels and outcomes such as cardiovascular disease . Much faster and cheaper than randomised controlled trials, and relatively free from the biases of observational studies, it has the potential to identify new drug targets and reduce attrition rates in the pharmaceutical development pipeline.
This case commentary concerns a 3-month old female infant (of parents who were first cousins) who presented with persistent diarrhoea, failure to thrive, and a low lymphocyte count. The topics addressed include the typical histories for severe combined immune deficiencies (SCID), how SCID can be confirmed, and the relevance of immunophenotyping circulating lymphocytes in the diagnosis of different types of SCID. This commentary was created in 2015 as part of the masters programme in Molecular and Cellular Biochemistry at the University of Oxford.
This case commentary concerns a 56-year-old patient with stage III malignant melanoma which was removed but within 7 months the patient developed secondary tumours in his vertebrae. A multi-epitope vaccination was given after which the patient developed vitiligo and posterior uveitis. The topics addressed include the different types of antigens that can be expressed by malignant melanoma, how immune surveillance fails, the immunological mechanisms involved in the side effects of vaccination, and a comparison of peptide vaccination with dendritic cell immunotherapies. This commentary was created in 2015 as part of the masters programme in Molecular and Cellular Biochemistry at the University of Oxford.