Sparks researchers are working on treatment therapies for these rare inherited genetic diseases that affect babies and children.

In two of these diseases, Niemann-Pick C1 and C2, babies appear normal at birth but fail to develop properly due to the accumulation of fatty molecules in their cells.

Smith-Lemli-Opitz Syndrome is caused by the alteration of a gene that stops cells from producing enough cholesterol. Cholesterol is essential for the development of babies both in the womb and has important functions after birth.

What we’re doing

The Sparks Cardiff -based team has discovered that while Niemann-Pick disease and Smith-Lemli-Opitz Syndrome have different symptoms, all of the diseases appear to share a similar metabolic defect that stops fatty molecules from being transported or broken down inside the cells. The team is currently evaluating therapies that could compensate for this defect.

The potential impact

This study is close to moving from the laboratory to the bedside as the team investigate possible clinical treatment with drugs that are already licensed for use. If this research is successful, new therapies could be developed to help babies and children with these conditions to live a normal life.

Location

Cardiff University and Oxford University 

Cost

£187,013 over 37 months

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