Abstract: Methods and compositions for the treatment of a corneal dystrophy in a subject in need thereof are provided. In one aspect, the method includes the step of obtaining a plurality of stem cells comprising a nucleic acid mutation in a corneal dystrophy target nucleic acid from the subject and manipulating the nucleic acid mutation in one or more stem cells of the plurality of stem cells to correct the nucleic acid mutation, thereby forming one or more manipulated stem cells. The manipulated stem cells are isolated and then transplanted into the subject. In some embodiments, the nucleic acid mutation is manipulated using CRISPR system.

Abstract: The present invention provides compositions and methods for detecting and treating respiratory illness. The methods and compositions described herein comprise at least one probe that may hybridize with a target nucleotide molecule. The target nucleotide molecule may be a part of a virus, which in turn may be present in a subject, such as a human subject.

Abstract: Systems and methods for detecting at least two genomic alleles associated with corneal dystrophy in a sample from a human subject are disclosed in which cells (e.g., epithelial) of the subject are adhered to a tip of a substrate. The tip of the substrate is agitated in a lysis solution that lyses cells adhered to the substrate. The substrate is removed from the lysis solution upon completion of this agitation. The resulting lysis solution is incubated and then genomic DNA from the lysis solution is isolated to form a gDNA solution. From this, identity of at least two nucleotides present in the human TGF?I gene is determined using at least two oligonucleotide primer pairs and the gDNA solution. These at least two nucleotides are located at respective independent positions of the TGF?I gene corresponding to respective independent single nucleotide polymorphisms (SNPs) associated with corneal dystrophy.

Abstract: Systems and methods for detecting at least two genomic alleles associated with corneal dystrophy in a sample from a human subject are disclosed in which cells (e.g., epithelial) of the subject are adhered to a tip of a substrate. The tip of the substrate is agitated in a lysis solution that lyses cells adhered to the substrate. The substrate is removed from the lysis solution upon completion of this agitation. The resulting lysis solution is incubated and then genomic DNA from the lysis solution is isolated to form a gDNA solution. From this, identity of at least two nucleotides present in the human TGF?I gene is determined using at least two oligonucleotide primer pairs and the gDNA solution. These at least two nucleotides are located at respective independent positions of the TGF?I gene corresponding to respective independent single nucleotide polymorphisms (SNPs) associated with corneal dystrophy.

Abstract: The present disclosure relates to improved methods for the isolation of genomic material and detection of disease related single nucleotide polymorphisms. In some aspects, these methods increase the total recovery of genomic DNA from buccal cell samples by improving cell lysis conditions. In other aspects, these methods allow for the reuse of patient buccal swab samples, reducing the likelihood of having to collect additional patient samples for re-testing. Finally, in some aspects, these methods increase the sensitivity of SNP detection using an improved real-time PCR assay protocol.

Abstract: The present disclosure relates to Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)/CRISPR associated protein 9 (Cas9) systems, and methods of use thereof for gene editing or for preventing, ameliorating or treating a disease associated with a gene mutation or single-nucleotide polymorphism (SNP) in a subject.

Abstract: The present disclosure relates to improved methods for the isolation of genomic material and detection of disease related single nucleotide polymorphisms. In some aspects, these methods increase the total recovery of genomic DNA from buccal cell samples by improving cell lysis conditions. In other aspects, these methods allow for the reuse of patient buccal swab samples, reducing the likelihood of having to collect additional patient samples for re-testing. Finally, in some aspects, these methods increase the sensitivity of SNP detection using an improved real-time PCR assay protocol.

Abstract: Systems and methods for detecting single nucleotide polymorphisms (SNPs) associated with keratoconus (KC) in a sample from a subject are described.

Abstract: The present disclosure provides a method for detecting corneal dystrophy in a subject, comprising a reaction mixture, the reaction mixture comprising one or more labeled probes comprising a mutant TGFBI nucleotide sequence; the reaction mixture further comprises at least one amplification primer pair for amplifying a TGFBI gene sequence from a biological sample from the subject; and detecting one, two, three, four, five or six mutations selected from the group consisting of G623D, M502V, R124S, A546D, H572R, and H626R mutations in TGFBI gene, wherein the detecting comprises detecting the one or more mutations using the labeled detection probes. Further provided is a reaction kit comprising the reaction mixture.

Abstract: The present disclosure relates to single guide RNA (sgRNA), Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)/CRISPR associate protein 9 (Cas9) system, and methods of use thereof for preventing, ameliorating or treating corneal dystrophies.

Abstract: Methods and compositions for the treatment of a corneal dystrophy in a subject in need thereof are provided. In one aspect, the method includes the step of obtaining a plurality of stem cells comprising a nucleic acid mutation in a corneal dystrophy target nucleic acid from the subject and manipulating the nucleic acid mutation in one or more stem cells of the plurality of stem cells to correct the nucleic acid mutation, thereby forming one or more manipulated stem cells. The manipulated stem cells are isolated and then transplanted into the subject. In some embodiments, the nucleic acid mutation is manipulated using CRISPR system.

Abstract: The present disclosure relates to improved methods for the isolation of genomic material and detection of disease related single nucleotide polymorphisms. In some aspects, these methods increase the total recovery of genomic DNA from buccal cell samples by improving cell lysis conditions. In other aspects, these methods allow for the reuse of patient buccal swab samples, reducing the likelihood of having to collect additional patient samples for re-testing. Finally, in some aspects, these methods increase the sensitivity of SNP detection using an improved real-time PCR assay protocol.

Abstract: The present disclosure relates to improved methods for the isolation of genomic material and detection of disease related single nucleotide polymorphisms. In some aspects, these methods increase the total recovery of genomic DNA from buccal cell samples by improving cell lysis conditions. In other aspects, these methods allow for the reuse of patient buccal swab samples, reducing the likelihood of having to collect additional patient samples for re-testing. Finally, in some aspects, these methods increase the sensitivity of SNP detection using an improved real-time PCR assay protocol.