DIAGNOSIS AND THERAPY OF CONDITIONS INVOLVING ALMS1

摘要

A method of diagnosing the presence of, or susceptibility to, retinal dystrophy, cardiomyopathy, endocrinopathy, diabetes or Alstrom disease in an individual, which method comprises typing in a sample from the individual the ALMS1 protein or ALMS1 gene region of the individual, or detecting aberrant ALMS1 activity, and thereby determining whether the individual has, or is susceptible to, retinal dystrophy, cardiomyopathy, endocrinopathy, diabetes or Alstrom disease. Use of an agent that modulates (i) the ALMSl protein, or (ii) a component that affects or is affected by ALMSl, in the manufacture of a medicament for preventing or treating retinal dystrophy, cardiomyopathy, endocrinopathy, diabetes or Alstrom disease.