Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.
Mathew WallisSimon D BodekJacob MunroHaloom RafehiMark F BennettZimeng YeAmy SchneiderFiona GardinerGiulia ValenteEmma MurdochEloise UebergangJacquie HunterChloe StutterdAamira HuqLucinda SalmonIngrid SchefferDhamidhu EratneStephen MeynChun Y FongTom JohnSaul MullenSusan M WhiteNatasha J BrownGeorge McGillivrayJesse ChenChris RichmondAndrew HughesEmma KrzesinskiAndrew FennellBrian ChambersRenee SantoreneosAnna Le FevreMichael S HildebrandMelanie BahloJohn ChristodoulouMartin DelatyckiSamuel F BerkovicPublished in: Orphanet journal of rare diseases (2024)
AHA-UDP demonstrates the utility of a UDP approach applying genome sequencing approaches in diagnosing adults with rare diseases who have had uninformative conventional genetic analysis, informing clinical management, recurrence risk, and recommendations for relatives.