Joanna Cross, M.Biochem.
DPhil Student
Investigation into two disorders of cholesterol biosynthesis
Smith-Lemli-Opitz Syndrome (SLOS) and Niemann-Pick type C (NPC) are recessive disorders of cholesterol metabolism caused by abnormal sterol levels and lysosomal storage respectively. Both disorders have distinct biochemical and behavioural phenotypes, including prevalent neurological dysfunction.
Key Points:
- Characterise behaviour of the Dhcr7T93M/Δ3-5 mouse model of SLOS
- Identify neurological structural changes in the Dhcr7T93M/Δ3-5 mouse model.
- Estimate patient incidence of SLOS and NPC using massively parallel sequencing data sets
- Investigate therapeutic mechanisms using SLOS and NPC patient skin cell fibroblasts