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We are interested in three genetic diseases that affect babies and children. In two of these diseases (Niemann-Pick C1 and C2) the babies appear normal at birth but fail to develop properly due to the accumulation of fatty molecules in their cells. The third disease (Smith-Lemli-Opitz syndrome) involves a failure of the body to make cholesterol and these babies have severe disease that includes birth defects such as cleft palate. In all three diseases mental retardation is a prominent feature.
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Beneficiaries
Situation
We have discovered a common cellular problem in these diseases. We are evaluating therapies that will compensate for this defect.  3 very rare neuordegenerative diseases affecting the intracellular metabolism/transport of cholesterol in children and less frequently, adults. All 3 rare diseases are incapacitating disorders for which there is no current treatment.  Children with Niemann-Pick C1 and 2 gene defects have hallmarks of Alzheimer’s disease ie. dementia, mental retardation and disorders of the nervous system. 1 in 100 000 incidence with an average 100 UK patients at any given time.  Smith-Lemli-Opitz syndrome leads to severe birth defects (webbing between digits, cleft palate, heart defects) and mental retardation. Can be as high as 1 in 3,500 live births. There is a 90% miscarriage frequency for affected fetuses, estimated several hundred UK patients.  Clinical benefit: immediate clinical application with drugs that are already licensed for human use. Simple treatment could make the difference between a normal child and a severely incapacitated one. This study is extremely close to a clinical trial.