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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


This work is supported by the Wellcome Trust (UK) and National Institutes of Health (USA)

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