Current projects
| OMIM | Description | Contact |
|---|---|---|
| 605388 | Ataxic cerebral palsy | Sheridan |
| 249000 | Meckel-Grüber syndrome | Johnson |
| 242650 | Primary ciliary dyskinesia | Sheridan |
| 608623 | Brain tumours & café au lait spots | Bonthron |
| 231090 | Recurrent hydatidiform mole | Bonthron |
| 167100,259100 | Primary hypertrophic osteoarthropathy | Bennett |
| Various | Technology development (NEAT) | Taylor |
| 605750 | Exudative vitreoretinopathy | Toomes |
| 604537 | Leber congenital amaurosis and other retinal degenerations | Inglehearn |
| 217700 | Corneal endothelial dystrophy | Inglehearn |
| 217080 | Amelogenesis imperfecta and cone-rod dystrophy | Mighell, Inglehearn |
Work in our centre is supported by a range of external agencies, including the Department of Health (New and Emerging Applications of Technology, NEAT), the Medical Research Council and the Wellcome Trust.
Basal ganglia calcification in the brain of a patient with Aicardi-Goutières syndrome. This recessive disorder shows many similarities to SLE, and results from intracellular nuclease dysfunction.