Rare disease
We work with varied clinical collaborators across specialities, aiming to identify the underlying aetiology of disease.
Overview
An established local collaboration with the Vision Laboratory, part of Clinical Neurosciences and Southampton Eye Unit, has produced patents in medical diagnostics. Projects focus on various diseases including age-related macular degeneration, glaucoma, nystagmus and cone dystrophy.
In collaboration with other colleagues at University Hospital Southampton NHS Trust, we have other small projects examining the genetics of Mendelian and Syndromic disorders including familial end stage renal failure, skeletal dysplasia as well as rare diseases such as Bazex-Dupre-Christol syndrome, autosomal dominant adult onset leukodystrophy.
An ongoing international collaboration to examine highly prevalent syndromic and non-syndromic cleft lip in Colombian patients in collaboration with Prof. Ignacio Briceno from Universidad de La Sabana, Bogota, Colombia continues to produce results that would not be possible whilst relying in local patient recruitment.
Publications
Some key publications from the group relating to rare disease are listed below.
Articles
- Gast, C., Pengelly, R., Lyon, M., Bunyan, D. J., Seaby, E. G., Graham, N., Venkat-Raman, G., & Ennis, S. (2016). Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis. Nephrology, Dialysis, Transplantation, 31(6), 961-970. https://doi.org/10.1093/ndt/gfv325
- Pengelly, R., Greville-Heygate, S., Schmidt, S., Seaby, E. G., Jabalameli, M. R., Mehta, S. G., Parker, M. J., Goudie, D., Fagotto-Kaufmann, C., Mercer, C., Debant, A., Ennis, S., & Baralle, D. (2016). Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly. Journal of Medical Genetics, 53(11), 735-742. https://doi.org/10.1136/jmedgenet-2016-103942
- Pengelly, R., Upstill-Goddard, R., Arias, L., Martinez, J., Gibson, J., Knut, M., Collins, A. L., Ennis, S., Collins, A., & Briceno, I. (2015). Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing. Clinical Genetics, 88(5), 441-449. https://doi.org/10.1111/cge.12547
- Tapper, W. J., Foulds, N., Cross, N. C. P., Aranaz, P., Score, J., Hidalgo-Curtis, C., Robinson, D. O., Gibson, J., Ennis, S., Temple, I. K., & Collins, A. (2014). Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations. PLoS ONE, 9(1), e86940. https://doi.org/10.1371/journal.pone.0086940
- Gibson, J., Gilbert, R. D., Bunyan, D. J., Angus, E. M., Fowler, D. J., & Ennis, S. (2013). Exome analysis resolves differential diagnosis of familial kidney disease and uncovers a potential confounding variant. Genetics Research, 95(6), 165-173. https://doi.org/10.1017/S0016672313000220