Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments.

ABSTRACT: Of the around 7,000 known rare diseases worldwide, disease-modifying treatments are available for fewer than 5%, leaving millions of individuals without specialized therapeutic strategies. In recent years, antisense oligonucleotides (ASOs) have shown promise as individualized genetic interventions for rare genetic diseases. However, there is currently no consensus on which disease-causing DNA variants are suitable candidates for this type of genetic therapy. The patient identification working group of the N=1 Collaborative (N1C), alongside an international group of volunteer assessors, has developed and piloted consensus guidelines for assessing the eligibility of pathogenic DNA variants for ASO treatments. We herein present the N1C VARIANT (variant assessments toward eligibility for antis

SUBMITTER: Cheerie D 

PROVIDER: S-EPMC12120168 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature