The New England journal of medicine, 2019-10, Vol.381 (17), p.1644-1652
- 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
- Yu, Timothy W
2019
Details
- Autor(en) / Beteiligte
- 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
- Yu, Timothy W
- Titel
- Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease
- Ist Teil von
- The New England journal of medicine, 2019-10, Vol.381 (17), p.1644-1652
- Ort / Verlag
- United States: Massachusetts Medical Society
- Erscheinungsjahr
- 2019
- Link zum Volltext
- Quelle
- Electronic Journals Library
- Beschreibungen/Notizen
- 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.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0028-4793eISSN: 1533-4406DOI: 10.1056/NEJMoa1813279Titel-ID: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6961983
- Format
- –
- Schlagworte
- Age, Antisense oligonucleotides, Biopsy, Cell lines, Child, Child Development, Consent, Diagnosis, Disease, Drug development, Drug Discovery, Drugs, Investigational - therapeutic use, EEG, Electroencephalography, Families & family life, FDA approval, Female, Fibroblasts, Genomes, Genomics, Hospitals, Humans, Laboratories, Membrane Transport Proteins - genetics, Mutagenesis, Insertional, Mutation, Neuronal Ceroid-Lipofuscinoses - drug therapy, Neuronal Ceroid-Lipofuscinoses - genetics, Neuropsychological Tests, NMR, Nuclear magnetic resonance, Oligonucleotides, Antisense - therapeutic use, Parents & parenting, Patients, Precision Medicine, Rare diseases, Rare Diseases - drug therapy, RNA, Messenger, Seizures, Seizures - diagnosis, Seizures - drug therapy, Skin - pathology, Whole Genome Sequencing