Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.

  title={Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.},
  author={Jinkuk Kim and Chu Hu and Christelle Moufawad El Achkar and Lauren E. Black and Julie Douville and Austin A. Larson and Mary K Pendergast and Sara F. Goldkind and Eunjung Alice Lee and Ashley Kuniholm and Aubrie Soucy and Jai Vaze and Nandkishore R. Belur and Kristina Fredriksen and Iva Stojkovska and Alla V. Tsytsykova and Myriam A Armant and Renata L DiDonato and Jaejoon Choi and Laura Cornelissen and Lu{\'i}s Moacir Nascimento Pereira and Erika F. Augustine and Casie A. Genetti and Kira A. Dies and Brenda Barton and Lucinda Williams and Benjamin D. Goodlett and Bobbie L Riley and A Pasternak and Emily Berry and Kelly A Pflock and Stephen Chu and C Reed and Kimberly Tyndall and Pankaj B. Agrawal and Alan H. Beggs and Patricia Ellen Grant and David K Urion and Richard O. Snyder and Susan E Waisbren and Annapurna H Poduri and Peter J. Park and Al Patterson and Alessandra Biffi and Joseph R. Mazzulli and Olaf A. Bodamer and Charles B Berde and Timothy W. Yu},
  journal={The New England journal of medicine},
Genome sequencing is often pivotal in the diagnosis of rare diseases, but many of these conditions lack specific treatments. We describe how molecular diagnosis of a rare, fatal neurodegenerative condition led to the rational design, testing, and manufacture of milasen, a splice-modulating antisense oligonucleotide drug tailored to a particular patient. Proof-of-concept experiments in cell lines from the patient served as the basis for launching an "N-of-1" study of milasen within 1 year after… 

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Longitudinal In Vivo Monitoring of the CNS Demonstrates the Efficacy of Gene Therapy in a Sheep Model of CLN5 Batten Disease.

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Hepatotoxic potential of therapeutic oligonucleotides can be predicted from their sequence and modification pattern.

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Landscape of Somatic Retrotransposition in Human Cancers

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