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WHAT IS THE NEXT STEP?

The gene will now be analyzed in the various IP patients to find all the mutations and to properly analyze them.

The portion of the gene that has been analyzed so far has revealed mutations that account for 80% percent of the cases.

Once mutations are identified, their effects on level and stability of the abnormal protein made in the cell upon the instructions of the mutated gene need to be determined.

Laboratory tests will be established to explain the function of mutant proteins. Animal models already exist, and the mice can help in the study of the gene's lethality, and the expressivity of the disease.

A mouse with IP will be extremely helpful in tracking the effect of the mutation at various levels and stages of development.

Animal models will also prove essential in testing various possible therapies.

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