@article {1469563,
	title = {Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease},
	journal = {N Engl J Med},
	year = {2019},
	month = {2019 Oct 09},
	abstract = {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 first contact with the patient. There were no serious adverse events, and treatment was associated with objective reduction in seizures (determined by electroencephalography and parental reporting). This study offers a possible template for the rapid development of patient-customized treatments. (Funded by Mila{\textquoteright}s Miracle Foundation and others.).},
	issn = {1533-4406},
	doi = {10.1056/NEJMoa1813279},
	author = {<b>Kim, Jinkuk</b> and Hu, Chunguang and Moufawad El Achkar, Christelle and Black, Lauren E and Douville, Julie and Larson, Austin and Pendergast, Mary K and Goldkind, Sara F and Lee, Eunjung A and Kuniholm, Ashley and Soucy, Aubrie and Vaze, Jai and Belur, Nandkishore R and Fredriksen, Kristina and Stojkovska, Iva and Tsytsykova, Alla and Armant, Myriam and DiDonato, Renata L and Choi, Jaejoon and Cornelissen, Laura and Pereira, Luis M and Augustine, Erika F and Genetti, Casie A and Dies, Kira and Barton, Brenda and Williams, Lucinda and Goodlett, Benjamin D and Riley, Bobbie L and Pasternak, Amy and Berry, Emily R and Pflock, Kelly A and Chu, Stephen and Reed, Chantal and Tyndall, Kimberly and Agrawal, Pankaj B and Beggs, Alan H and Grant, P Ellen and Urion, David K and Snyder, Richard O and Waisbren, Susan E. and Poduri, Annapurna and <b>Park, Peter J</b> and Patterson, Al and Biffi, Alessandra and Mazzulli, Joseph R and Bodamer, Olaf and Berde, Charles B and Yu, Timothy W}
}
