Searchable abstracts of presentations at key conferences in endocrinology

ea0030p18 | (1) | BSPED2012

The Euro-WABB Registry: differences in prevalence of diabetes between Wolfram, Alstrom, and Bardet-Biedl syndromes

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...

ea0039oc7.1 | Oral Communications 7 | BSPED2015

Wolfram syndrome: natural history and genotype-phenotype correlation based on EURO-WABB registry show gender differences in disease severity

Dias Renuka , Richens Caitlin , Astuti Dewi , Nightingale Peter , Ayme Segolene , Lopez de Heredia Miguel , Maffei Pietro , McCafferty Susan , Mlynarski Wojciech , Nunes Virginia , Parkinson Kay , Paquis-Flucklinge Veronique , Rohayem Julia , Sinnott Richard , Tillmann Vallo , Tranebjaerg Lisbeth , Barrett Timothy

Background: Wolfram syndrome (WS) is a rare autosomal recessive disorder, characterised by early-onset diabetes and optic atrophy. It is caused by mutations in WFS1.Objective and hypotheses: This study aimed to comprehensively review the natural history of WS in a large cohort of patients from the EURO-WABB registry.Method: Data from EURO-WABB patients with WS was analysed in conjunction with the Leiden Open Variation Data...