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 Berkovic

Published 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.

Keyphrases

genome wide
quality improvement
single cell
copy number
gene expression
young adults