ea0030p18 | (1) | BSPED2012
Farmer Amy
, Ayme Segolene
, Maffei Pietro
, Mccafferty Susan
, Sinnott Richard
, Mlynarski Wojciech
, Nunes Virginia
, Paquis Veronique
, Parkinson Kay
, Tillman Vallo
, Barrett Timothy
Objectives: We aimed to develop a registry for the rare genetic diseases Wolfram (WS), Alstrom (AS), Bardet Biedl (BBS) and other diabetes syndromes, containing clinical, genetic diagnostic and outcome data. The purpose is to establish the natural history of these diseases; to assess clinical management; to characterize cohorts for future clinical trials; and to establish genotype phenotype relations. This abstract describes the first 50 patients recruited.<p class="abstex...