WO2024220795 - METHODS AND COMPOSITIONS FOR ANALYSIS AND TREATMENT OF REPEAT EXPANSION DISORDERS

National phase entry is expected:
Publication Number WO/2024/220795
Publication Date 24.10.2024
International Application No. PCT/US2024/025389
International Filing Date 19.04.2024
Title **
[English] METHODS AND COMPOSITIONS FOR ANALYSIS AND TREATMENT OF REPEAT EXPANSION DISORDERS
[French] PROCÉDÉS ET COMPOSITIONS POUR L'ANALYSE ET LE TRAITEMENT DE MALADIE À TRIPLETS RÉPÉTÉS
Applicants **
THE BROAD INSTITUTE, INC.
PRESIDENT AND FELLOWS OF HARVARD COLLEGE
Inventors
MCDONALD, Tara Maureen
MCCARROLL, Steven A.
HANDSAKER, Robert E.
REED, Nora M.
KAMITAKI, Nolan
LEE, Won-Seok
Priority Data
63/461,164   21.04.2023   US
63/558,354   27.02.2024   US
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Quotation for National Phase entry

Country StagesTotal
China Filing, Examination, Granting4184
EPO Filing, Examination, Granting18309
Japan Filing, Examination, Granting2307
South Korea Filing, Examination, Granting2413
USA Filing, Examination, Granting6540
MasterCard Visa
Total: 33,753

The term for entry into the National Phase has expired. This quotation is for informational purposes only

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Abstract[English] Methods and compositions for analysis and treatment of repeat expansion disorders are described. Labeled amplicons of a variable repeat region of a gene may be generated, said generating using primers that introduce at least one molecular label to respective nucleic acid molecules of origin of a biological sample. The labeled amplicons may be sequenced to generate sequencing reads having the at least one molecular label incorporated. A sequence repeat length distribution of the variable repeat region in at least a portion of the biological sample may be generated based on the sequencing reads.[French] L'invention concerne des procédés et des compositions pour l'analyse et le traitement de maladie à triplets répétés. Des amplicons marqués d'une région de répétition variable d'un gène peuvent être générés, ladite génération utilisant des amorces qui introduisent au moins une étiquette moléculaire sur des molécules d'acide nucléique d'origine respectives d'un échantillon biologique. Les amplicons marqués peuvent être séquencés pour générer des lectures de séquençage ayant la ou les étiquettes moléculaires incorporées. Une distribution de longueur de répétition de séquence de la région de répétition variable dans au moins une partie de l'échantillon biologique peut être générée sur la base des lectures de séquençage.