Unravelling the regulatory mechanisms underlying expression of COL5A1 in human cornea in health and disease (360G-Wellcome-209916_Z_17_Z)

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Keratoconus is the most common corneal dystrophy. Patients with keratoconus experience corneal thinning and bowing of the cornea causing problems with vision. The condition usually effects both eyes where moderate to severe cases require corneal transplant to improve vision. Unfortunately, diagnosis proves as challenging, where early disease is difficult to recognise. Mild to moderate disease can be treated with glasses or contact lenses to improve vision, although subjective vision gain is variable depending on level of astigmatism. The underlying process that leads to keratoconus and corneal thinning is unknown. Research suggests that there is a strong genetic component underlying the pathogenesis of corneal thinning and disease. Recent work from the Vitart lab has identified genetic regions that may be implicated in corneal thinning and keratoconus. Some of these regions are near a gene that codes for a type of collagen called COL5A1. We are interested to see if these regions have a role in regulating this gene, thereby implicating its importance in variation of central corneal thickness and keratoconus. This research will look at unlocking those complex genetic mechanisms by use of a cell line and a mouse model.

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Grant Details

Amount Awarded 0
Applicant Surname Mustafa
Approval Committee Internal Decision Panel
Award Date 2018-09-30T00:00:00+00:00
Financial Year 2017/18
Grant Programme: Title PhD Training Fellowship for Clinicians
Internal ID 209916/Z/17/Z
Lead Applicant Dr Zuhair Mustafa
Partnership Value 0
Planned Dates: End Date 2021-02-01T00:00:00+00:00
Planned Dates: Start Date 2017-08-02T00:00:00+00:00
Recipient Org: Country United Kingdom
Region Scotland