Article
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments.
American journal of human genetics - 1 May 2025
Cheerie David, Meserve Margaret M, Beijer Danique, Kaiwar Charu, Newton Logan, Taylor Tavares Ana Lisa, Verran Aubrie Soucy, Sherrill Emma, Leonard Stefanie, Sanders Stephan J, Blake Emily, Elkhateeb Nour, Gandhi Aastha, Liang Nicole S Y, Morgan Jack T, Verwillow Anna, Verheijen Jan, Giles Andrew, Williams Sean, Chopra Maya, Croft Laura, Dafsari Hormos Salimi, Davidson Alice E, Friedman Jennifer, Gregor Anne, Haque Bushra, Lechner Rosan, Montgomery Kylie-Ann, Ryten Mina, Schober Emil, Siegel Gabriele, Sullivan Patricia J, Whittle Ella F, Zardetto Bianca, Yu Timothy W, Synofzik Matthis, Aartsma-Rus Annemieke, Costain Gregory, Lauffer Marlen C
Abstract excerpt
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...
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