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AssigneesTufts Medical Center, Inc., Auttx, LLC
InventorsIsabelle Draper, Alan S. Kopin, Donna Slonim
Estimating the term…
Disclosed are methods of treating autism spectrum disorder (ASD) by administering a therapeutically effective amount of an isoprenoid antibiotic to subjects identified with a splicing defect in an ASD associated gene. The method of treating a subject with a neurological disease is carried out by identifying the subject comprising a splicing defect in an autism spectrum disorder (ASD)-associated gene, the target gene being characterized as having an hnRNP L binding site. The subject is treated by administering a spliceopathy rescue agent to repair the splicing defect. Also disclosed are methods of upregulating hnRNP L and hnRNP L targets by administering a therapeutically effective amount of an isoprenoid antibiotic. Methods of screening compounds for use in treating autism spectrum disorder (ASD) are also described.
A method of treating a subject with a neurological disease comprising identifying the subject comprising a splicing defect in an autism spectrum disorder (ASD)-associated gene, said target gene being characterized as having an hnRNP L binding site, and administering to said subject a spliceopathy rescue agent to repair said splicing defect, wherein said ASD-associated gene does not comprise AB11, ACSS2, AGAP3, AGXT2L2, APP, ATP2B1, ATP2B4, BIN1, BPTF/FALZ, C12orf41/KANSL2, C14orf133/VIPAR, DMD, DTNA, E1F2C2, EPB41L2, FMNL2, GARNL1/RALGAPA1, ITSN2, KIAA1217, LRRFIP1, MAPT, MAX, MEF2A, NCAM1, PALLD, PDLIM7, PPP2R5C, PTPN3, RPGR, RRN3, SAD1/BRSK2, SAMD4A, SEMA6D, SLC25A3, SLC39A9, SMTN, SORBS1, STXBP5, SVIL, TPM1, TPM3, TRIM66, TTN, VPS29, XPNPEP1, or ZMYND8.
-47. (canceled)
A method of identifying a subject suffering from or at risk of developing ASD or developing intellectual disability comprising
-55. (canceled)
A composition comprising a spliceopathy rescue agent for treating a subject with a neurological disease, wherein the composition repairs a splicing defect in an ASD-associated gene, wherein said target gene is characterized as having an hnRNP L binding site, and said ASD-associated gene does not comprise AB11, ACSS2, AGAP3, AGXT2L2, APP, ATP2B1, ATP2B4, BIN1, BPTF/FALZ, C12orf41/KANSL2, C14orf133/VIPAR, DMD, DTNA, ElF2C2, EPB41L2, FMNL2, GARNL1/RALGAPA1, ITSN2, KIAA1217, LRRFIP1, MAPT, MAX, MEF2A, NCAM1, PALLD, PDLIM7, PPP2R5C, PTPN3, RPGR, RRN3, SAD1/BRSK2, SAMD4A, SEMA6D, SLC25A3, SLC39A9, SMTN, SORBS1, STXBP5, SVIL, TPM1, TPM3, TRIM66, TTN, VPS29, XPNPEP1, or ZMYND8.
-79. (canceled)
Dependencies are inferred from the claim text.