Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease
About this item
Full title
Author / Creator
Kim, Jinkuk , Hu, Chunguang , Moufawad El Achkar, Christelle , Black, Lauren E , Douville, Julie , Larson, Austin , Pendergast, Mary K , Goldkind, Sara F , Lee, Eunjung A , Kuniholm, Ashley , Soucy, Aubrie , Vaze, Jai , Belur, Nandkishore R , Fredriksen, Kristina , Stojkovska, Iva , Tsytsykova, Alla , Armant, Myriam , DiDonato, Renata L , Choi, Jaejoon , Cornelissen, Laura , Pereira, Luis M , Augustine, Erika F , Genetti, Casie A , Dies, Kira , Barton, Brenda , Williams, Lucinda , Goodlett, Benjamin D , Riley, Bobbie L , Pasternak, Amy , Berry, Emily R , Pflock, Kelly A , Chu, Stephen , Reed, Chantal , Tyndall, Kimberly , Agrawal, Pankaj B , Beggs, Alan H , Grant, P. Ellen , Urion, David K , Snyder, Richard O , Waisbren, Susan E , Poduri, Annapurna , Park, Peter J , Patterson, Al , Biffi, Alessandra , Mazzulli, Joseph R , Bodamer, Olaf , Berde, Charles B and Yu, Timothy W
Publisher
United States: Massachusetts Medical Society
Journal title
Language
English
Formats
Publication information
Publisher
United States: Massachusetts Medical Society
Subjects
More information
Scope and Contents
Contents
A child with a neuronal ceroid lipofuscinosis was found to carry loss-of-function mutations in the gene
MFSD8
(
CLN7
). A year after genetic diagnosis, the child began treatment with an oligonucleotide drug that was designed to correct the aberrant pre–messenger RNA splicing caused by one of these mutations.
Alternative Titles
Full title
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease
Authors, Artists and Contributors
Author / Creator
Hu, Chunguang
Moufawad El Achkar, Christelle
Black, Lauren E
Douville, Julie
Larson, Austin
Pendergast, Mary K
Goldkind, Sara F
Lee, Eunjung A
Kuniholm, Ashley
Soucy, Aubrie
Vaze, Jai
Belur, Nandkishore R
Fredriksen, Kristina
Stojkovska, Iva
Tsytsykova, Alla
Armant, Myriam
DiDonato, Renata L
Choi, Jaejoon
Cornelissen, Laura
Pereira, Luis M
Augustine, Erika F
Genetti, Casie A
Dies, Kira
Barton, Brenda
Williams, Lucinda
Goodlett, Benjamin D
Riley, Bobbie L
Pasternak, Amy
Berry, Emily R
Pflock, Kelly A
Chu, Stephen
Reed, Chantal
Tyndall, Kimberly
Agrawal, Pankaj B
Beggs, Alan H
Grant, P. Ellen
Urion, David K
Snyder, Richard O
Waisbren, Susan E
Poduri, Annapurna
Park, Peter J
Patterson, Al
Biffi, Alessandra
Mazzulli, Joseph R
Bodamer, Olaf
Berde, Charles B
Yu, Timothy W
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6961983
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6961983
Other Identifiers
ISSN
0028-4793
E-ISSN
1533-4406
DOI
10.1056/NEJMoa1813279
