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Joel Buxbaum

Joel Buxbaum

TSRI, USA

We have been investigating transthyretin (TTR) as a systemic amyloid precursor since the late 1980’s when it was noted that there were both autosomal dominant and sporadic forms of human TTR amyloidosis and that molecular genetics could be used to attack the problem.  We cloned the intact mutant and wild type TTR genes from the same patient, each on a 20kb single fragment of genomic DNA containing all the known sequences required for tissue specific expression and made transgenic lines expressing either the mutant or wild type gene in a tissue specific manner.