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The University of Southampton
Genomic Informatics

Rare disease

We work with varied clinical collaborators across specialities, aiming to identify the underlying aetiology of disease.

Finding aetiogical mutations
Finding aetiogical mutations

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.


Some key publications from the group relating to rare disease are listed below.


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