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US 2024/0182969 A1Published application
Method for detecting alleles associated with keratoconus
AssigneeAvellino Lab USA, Inc.
InventorLarry DEDIONISIO
Life of this patent
Estimating the term…
Abstract
Methods for treating keratoconus in a subject based on diagnosing or prognosing of keratoconus in the subject or predicting risk of keratoconus in the subject in accordance with detecting genetic variants in a sample from the subject are described.
Claims20
A method for developing a treatment regimen for the treatment of keratoconous (KC) in a subject, the method comprising diagnosing or prognosing KC in the subject in accordance with detecting genetic variants of ten or more genes in a sample from the subject, wherein:
- the ten or more genes are selected from the group consisting of ABCA4, ABCB5, ABCC6, ADAMTS18, ADGRV1, AGBL1, ANGPTL7, BEST1, CHST6, COL2A1, COL4A1, COL4A2, COL4A3, COL4A4, COL5A1, COL5A2, COL6A1, COL8A2, COL12A1, COL17A1, CYP4V2, DIAPH1, DOCK9, FOXE3, FYN, GJA8, GSN, HGF, ILIA, ILIRN, IL6, IL10, ITGB1, KERA, KRT3, KRT12, KRT13, KRT15, KRT16, KRT23, KRT24, LCAT, LOX, LRRN1, LTBP2, MAP2K1, MAP3K19, MTOR, MYLK, NLRP1, OVOL2, PAX6, PIK3CG, PIKFYVE, PIK3R1, PRDM5, PTK2, PXDN, PXN, RAF1, RHOA, SFTPD, SHC1, SIX5, SLC4A11, TACSTD2, TCF4, TGFBI, TLN1, UBIAD1, VSX1, WNT9A, WNT9B, ZEB1, and ZNF469;
- and
- the presence of the genetic variants is indicative of the need for a KC treatment regimen in the subject.
A method for treating keratoconous (KC) in a subject, the method comprising:
- diagnosing or prognosing KC in a subject or predicting risk of KC in the subject in accordance with detecting genetic variants of five or more genes in a sample from the subject, wherein the five or more genes are selected from a first group consisting of ABCA4, ABCB5, ABCC6, ADAMTS18, ADGRV1, AGBL1, ANGPTL7, BEST1, CHST6, COL2A1, COL4A1, COL4A2, COL4A3, COL4A4, COL5A1, COL5A2, COL6A1, COL8A2, COL12A1, COL17A1, CYP4V2, DIAPH1, DOCK9, FOXE3, FYN, GJA8, GSN, HGF, ILIA, ILIRN, IL6, IL10, ITGB1, KERA, KRT3, KRT12, KRT13, KRT15, KRT16, KRT23, KRT24, LCAT, LOX, LRRN1, LTBP2, MAP2K1, MAP3K19, MTOR, MYLK, NLRP1, OVOL2, PAX6, PIK3CG, PIKFYVE, PIK3R1, PRDM5, PTK2, PXDN, PXN, RAF1, RHOA, SFTPD, SHC1, SIX5, SLC4A11, TACSTD2, TCF4, TGFBI, TLN1, UBIAD1, VSX1, WNT9A, WNT9B, ZEB1, and ZNF469, including detecting one or more variants of at least one gene selected from a second group consisting of ABCA4, ABCB5, ABCC6, ADAMTS18, ADGRV1, ANGPTL7, BEST1, COL2A1, COL4A1, COL4A2, COL4A3, COL4A4, COL5A2, COL6A1, COL12A1, DIAPH1, DOCK9, FYN, HGF, ILIA, ILIRN, IL6, IL10, ITGB1, KRT13, KRT15, KRT16, KRT23, KRT24, LOX, LRRN1, LTBP2, MAP2K1, MAP3K19, MTOR, MYLK, NLRP1, PAX6, PIK3CG, PIK3R1, PTK2, PXDN, PXN, RAF1, RHOA, SFTPD, SHC1, SIX5, TLN1, WNT9A, and WNT9B and wherein the presence of the genetic variants is indicative of a diagnosis or prognosis of KC in the subject;
- and
- administering a treatment for KC to the subject.
Dependencies are inferred from the claim text.