Is Oxford Nanopore Technology Ready for Clinical Diagnostics?
Poster Apr 26, 2017
GR Taylor, Kesia Brown, Andrew Bond & Michael Yau
Bridging the “valley of death” between scientific and technological innovation and clinical implementation is a cultural challenge for many organizations, including the NHS. Nanopore sequencing is a good example of a potentially disruptive genomics technology that looks likely to converge with mainstream clinical genomics in the near future. Since the technology is packaged in a range of products from the relatively small scale (Gigabase) O.N. Minion to the Terabase-scale Promethion, service developers have the opportunity to cross the valley of death using a “rope bridge” prior to investing in major infrastructure. Our objective is to validate diagnostic services using Oxford Nanopore’s Minion in the first instance and to evaluate the cost and performance compared to existing sequencing technology in areas such as tumour DNA sequencing (and circulating tumour DNA), virology, microbiology, genetics and HLA-typing. To facilitate this we are developing R&D collaborations and securing grant funding and commercial backing.
Psychiatric Risk Gene Cacna1c and Early Life Stress: Potential Gene-Environment interactions?Poster
Early life stress (ELS) is highly associated with development of psychopathology
and mood disorders in adulthood. Genetic studies have identified variation in the gene calcium voltage-gated channel subunit alpha1C (CACNA1C) to increase risk for several psychiatric disorders. This poster assessed the expression of Cacna1c following prepubertal stress.
T-helper cell phenotype expression in cutaneous lesions of angioimmunoblastic T-cell lymphomaPoster
Angioimmunoblastic T-cell lymphoma (AITL) is a common type of peripheral T-cell lymphoma. AITL can be missed until lymphadenopathy develops in patients initially presenting with skin lesions, as skin biopsy may lack conclusive findings. Our case highlights the extranodal presentation of AITL with cutaneous lesions displaying the TFH phenotype.READ MORE
Novel Role of the Innate Immune DNA Sensor IFI16 (Interferon Gamma Inducible Protein 16) as a Major Epigenetic Modulator During KSHV Infection and Lytic ReactivationPoster
Studies have shown that IFI16 acts as an antiviral restriction factor against a number of DNA viruses, by inhibiting viral replication or transcription through epigenetic modifications. However, till date, no specific epigenetic function of IFI16 has been identified. Here, we have discovered that IFI16 recruits two histone methyltransferases on the KSHV episome leading to altered Histone H3K9 methylation, thus regulating its lifecycle.READ MORE
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