%0 Journal Article
%A Cheerie, David
%A Lauffer, Marlen C
%A Newton, Logan
%A Amburgey, Kimberly
%A Beijer, Danique
%A Haque, Bushra
%A Kalish, Brian T
%A Meserve, Margaret M
%A Oh, Rachel Y
%A Pan, Amy Y
%A Reuter, Miriam S
%A Szego, Michael J
%A Szuto, Anna
%A Aartsma-Rus, Annemieke
%A Axford, Michelle M
%A Deshwar, Ashish R
%A Dowling, James J
%A Marshall, Christian R
%A Ivakine, Zhenya
%A Synofzik, Matthis
%A Yu, Timothy W
%A Costain, Gregory
%T Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort study.
%J Genetics in medicine
%V 28
%N 1
%@ 1098-3600
%C Amsterdam
%I Elsevier
%M DZNE-2025-01434
%P 101597
%D 2025
%X To estimate the proportion of molecular genetic diagnoses in a real-world, phenotypically heterogeneous patient cohort that are amenable to antisense oligonucleotide (ASO) treatment.We retrospectively applied the N=1 Collaborative's Variant Assessments toward Eligibility for Antisense Oligonucleotide Treatment guidelines to all diagnostic variants found by clinical genome-wide sequencing at a single pediatric hospital in 532 patients over a 6-year period. Variants were classified as either 'eligible,' 'likely eligible,' 'unlikely eligible,' or 'not eligible' in relation to the different ASO approaches, or 'unable to assess.'In total, 25 unique variants across 26 patients (4.9
%K Antisense oligonucleotides (Other)
%K Experimental therapy (Other)
%K Inborn genetic disease (Other)
%K Rare disease (Other)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:41090344
%R 10.1016/j.gim.2025.101597
%U https://pub.dzne.de/record/283022