Thinking Allowed

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease | NEJM: Summary 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.

Jinkuk Kim. Chunguang Hu. Christelle Moufawad El Achkar. Lauren E. Black. Julie Douville. Austin Larson. Mary K. Pendergast. Sara F. Goldkind. Eunjung A. Lee. Ashley Kuniholm. Aubrie Soucy. Jai Vaze. Nandkishore R. Belur. Kristina Fredriksen. Iva Stojkovska. Alla Tsytsykova. Myriam Armant. Renata L. DiDonato. Jaejoon Choi. Laura Cornelissen. Luis M. Pereira. Erika F. Augustine. Casie A. Genetti. Kira Dies. Brenda Barton. Lucinda Williams. Benjamin D. Goodlett. Bobbie L. Riley. Amy Pasternak. Emily R. Berry. Kelly A. Pflock. Stephen Chu. Chantal Reed. Kimberly Tyndall. Pankaj B. Agrawal. Alan H. Beggs. P. Ellen Grant. David K. Urion. Richard O. Snyder. Susan E. Waisbren. Annapurna Poduri. Peter J. Park. Al Patterson. Alessandra Biffi. Joseph R. Mazzulli. Olaf Bodamer. Charles B. Berde. Timothy W. Yu. N Engl J Med 2019; 381:1644-1652