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Rare Diseases
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Tracey Rouault Lab
Porter Lab: Section on Molecular Dysmorphology
The Section on Molecular Dysmorphology studies the molecular, biochemical, and cellular processes that underlie genetic disorders resulting from impaired cholesterol homeostasis and lysosomal dysfunction. Inborn errors of cholesterol synthesis, such as Smith-Lemli-Opitz syndrome (SLOS), result in congenital malformation/cognitive impairment disorders. Lysosomal diseases such as Niemann-Pick disease, type C (NPC) and CLN3 disease (Juvenile Batten disease) result in progressive neurodegeneration.