Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease

Supported by Mila’s Miracle Foundation, Boston Children’s Hospital, the Harvard Catalyst Clinical and Translational Research Center (through National Center for Advancing Translational Sciences grant 8UL1TR000170), the Mooney Family Fund, and the Boston Children’s Hospital Translational Research Program. Claritas Genomics and WuXi NextCODE provided whole-genome sequencing and Clinical Laboratory Improvement Amendments confirmation. The process of obtaining consent, the enrollment of patients, and molecular genetic analyses were conducted with the assistance and support of the Manton Center for Orphan Disease Research and the Boston Children’s Hospital Intellectual and Developmental Disabilities Research Center (IDDRC) Molecular Genetics Core Laboratory, which is supported in part by a grant from the National Institutes of Health (1U54HD090255).

Disclosure forms provided by the authors are available with the full text of this article at

Drs. Kim and Hu contributed equally to this article.

This article was published on October 9, 2019, at

We thank the members of our patient’s family for their participation, trust, and partnership, and the many people who contributed their time, advice, and expertise to this project, including Firoz Antia, Frank Bennett, Daniel Capaldi, Mary Ellen Cortizas, Alan Crane, Basil Darras, Tony DeFusco, Craig Dobbs, Diana H. Chin, Didem Demirbas Cakici, Cynthia Gubbels, Luc Chouinard, Richard Finkel, Jim Gombold, Jeff Gulcher, Liz Groebel, Damian Ackermann, Scott Henry, Carl Hull, Cameron Jones, Susan Kornetsky, Art Krieg, Ron Lacro, Helen Legakis, Paul McLean, Steve Miklasz, Patrice Milos, Myriam Mirza, Max Moore, Roger O’Rielly, Philip Reilly, Audrey Saumure Di Fruscia, Susan Srivatsa, Jessica Stewart, John Thompson, Lloyd Tilman, Andy Vick, Hong Vu and colleagues in the Division of Gastroenterology and Inborn Errors Products from the Center for Drug Evaluation and Research at the Food and Drug Administration, Josh Whisenand, David Williams, Fran Wincott, and Michael Wourms.

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