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000283022 1001_ $$aCheerie, David$$b0
000283022 245__ $$aScreening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort study.
000283022 260__ $$aAmsterdam$$bElsevier$$c2025
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000283022 520__ $$aTo estimate the proportion of molecular genetic diagnoses in a real-world, phenotypically heterogeneous patient cohort that are amenable to antisense oligonucleotide (ASO) treatment.We retrospectively applied the N=1 Collaborative's Variant Assessments toward Eligibility for Antisense Oligonucleotide Treatment guidelines to all diagnostic variants found by clinical genome-wide sequencing at a single pediatric hospital in 532 patients over a 6-year period. Variants were classified as either 'eligible,' 'likely eligible,' 'unlikely eligible,' or 'not eligible' in relation to the different ASO approaches, or 'unable to assess.'In total, 25 unique variants across 26 patients (4.9% of 532 patients) were eligible or likely eligible for ASO treatment at a molecular genetic level, via canonical exon skipping (4), splice correction (3), or messenger RNA knockdown (19). Only 8 of these molecular genetic diagnoses were made within a year of symptom onset. After considering disease and delivery related factors, 11 diagnoses were still considered candidates for bespoke ASO development.A meaningful proportion of genetic diagnoses identified by genome-wide sequencing may be amenable to ASO treatment. These results underscore the importance of timely diagnosis, and the proactive identification and accelerated functional testing of genetic variants amenable to ASO treatments.
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000283022 650_7 $$2Other$$aAntisense oligonucleotides
000283022 650_7 $$2Other$$aExperimental therapy
000283022 650_7 $$2Other$$aInborn genetic disease
000283022 650_7 $$2Other$$aRare disease
000283022 7001_ $$aLauffer, Marlen C$$b1
000283022 7001_ $$aNewton, Logan$$b2
000283022 7001_ $$aAmburgey, Kimberly$$b3
000283022 7001_ $$0P:(DE-2719)9002605$$aBeijer, Danique$$b4$$udzne
000283022 7001_ $$aHaque, Bushra$$b5
000283022 7001_ $$aKalish, Brian T$$b6
000283022 7001_ $$aMeserve, Margaret M$$b7
000283022 7001_ $$aOh, Rachel Y$$b8
000283022 7001_ $$aPan, Amy Y$$b9
000283022 7001_ $$aReuter, Miriam S$$b10
000283022 7001_ $$aSzego, Michael J$$b11
000283022 7001_ $$aSzuto, Anna$$b12
000283022 7001_ $$aN=1 Collaborative$$b13$$eCollaboration Author
000283022 7001_ $$aAartsma-Rus, Annemieke$$b14
000283022 7001_ $$aAxford, Michelle M$$b15
000283022 7001_ $$aDeshwar, Ashish R$$b16
000283022 7001_ $$aDowling, James J$$b17
000283022 7001_ $$aMarshall, Christian R$$b18
000283022 7001_ $$aIvakine, Zhenya$$b19
000283022 7001_ $$0P:(DE-2719)2811275$$aSynofzik, Matthis$$b20$$udzne
000283022 7001_ $$aYu, Timothy W$$b21
000283022 7001_ $$aCostain, Gregory$$b22
000283022 7001_ $$aTaylor Tavares, Ana Lisa$$b23$$eContributor
000283022 7001_ $$aAartsma-Rus, Annemieke$$b24$$eContributor
000283022 7001_ $$aVerran, Aubrie Soucy$$b25$$eContributor
000283022 7001_ $$aKaiwar, Charu$$b26$$eContributor
000283022 7001_ $$0P:(DE-2719)9002605$$aBeijer, Danique$$b27$$eContributor$$udzne
000283022 7001_ $$aCheerie, David$$b28$$eContributor
000283022 7001_ $$aSherrill, Emma$$b29$$eContributor
000283022 7001_ $$aCostain, Gregory$$b30$$eContributor
000283022 7001_ $$aNewton, Logan$$b31$$eContributor
000283022 7001_ $$aMeserve, Margaret M$$b32$$eContributor
000283022 7001_ $$aLauffer, Marlen C$$b33$$eContributor
000283022 7001_ $$0P:(DE-2719)2811275$$aSynofzik, Matthis$$b34$$eContributor$$udzne
000283022 7001_ $$aNolen, Nicole$$b35$$eContributor
000283022 7001_ $$aLeonard, Stefanie$$b36$$eContributor
000283022 7001_ $$aSanders, Stephan J$$b37$$eContributor
000283022 7001_ $$aYu, Timothy W$$b38$$eContributor
000283022 773__ $$0PERI:(DE-600)2063504-7$$a10.1016/j.gim.2025.101597$$gVol. 28, no. 1, p. 101597 -$$n1$$p101597$$tGenetics in medicine$$v28$$x1098-3600$$y2025
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