Abstract: Compositions and methods for diagnosis or treatment of epilepsy disease with EFHC1, EFHC1 agonists, or EFHC1 analogs are provided. Compositions and methods for diagnosis or treatment of epilepsy disease with EFHC1a, EFHC1a agonists, or EFHC1a analogs are provided.

Abstract: Methods for determining the presence or absence of expansion of CGG repeat sequence in the FMR1 gene presence or absence of expansion of CCG repeat sequence in the FMR2 gene are provided. The methods are useful in identifying an individual with normal/intermediate, versus premutation or full mutation allele of FMR1 gene and FMR2 gene due to the expansion of CGG repeats and CCG repeats in the 5?-untranslated region respectively. The methods are also useful for screening newborns for fragile X syndrome or for screening women to determine heterozygosity status with full premutation of the CCG repeat tract. The methods are also useful in estimating the premutation and full mutation carrier frequency and estimating the prevalence of FXTAS AND FXPOI in a population. The methods are simple, rapid and require small amount of sample.

Abstract: The present invention is a tool for diagnosis and prediction using biomarker-based risk assessment for chilling-related disorders of Rosaceous fruit crops including apple and pear. Provided are methodology and genes whose relative and absolute expression can accurately indicate disorder risk throughout the production and supply chain of these crops. This technology describes a necessary and novel management tool for stakeholders producing, servicing, or retailing these crops.

Abstract: A genetic biomarker panel is provided for prognosing late onset ER+ breast cancer relapse, in a breast cancer survivor patient. Kits are also provided for measuring levels or the presence of an identified panel of genetic biomarkers. Methods are also provided for identifying a breast cancer survivor patient at a relatively high risk of suffering a breast cancer relapse within 8 years of diagnosis, and therefore suitable for treatment with an aggressive chemotherapeutic regimen. The method may also be used for identifying a breast cancer survivor patient not at high risk of suffering a breast cancer relapse within 8 years of diagnosis, and thus not suitable for treatment with an aggressive chemotherapeutic regimen. The genetic biomarker panel includes an oligonucleotide/nucleic acid sequence specific for the following genes: MKI67, SPAG5, ESPL1, PLK1, or a genetic panel for MKI67, SPAG5, ESPL1, PLK1 and PGR.

Abstract: The invention provides compositions and methods for detecting a neoplasia (e.g., pancreatic cancer, lung cancer, colon cancer) in a subject sample (e.g., serum, blood, plasma, tissue). In particular embodiments, the invention provides methods for detecting BNC1 and ADAMTS1 promoter methylation in circulating DNA in serum.

Abstract: The present invention relates to a method for screening a risk group of a hematologic disease and a method for analyzing the prognosis of a hematologic disease based on the measurement of the level of gelsolin mRNA in buffy coat of peripheral blood or a bone marrow aspirate. The use of the present invention enables the screening of a risk group of a hematologic disease and the analysis of prognosis of a patient with a hematologic disease in an easy and accurate manner.

Abstract: This present invention provides methods of treating of assessing/monitoring the responsiveness of a cancer cell to JAK inhibitor therapy.

Abstract: The present invention relates to a method of determining the susceptibility of a dog to, or the likelihood that a dog is protected from, hip dysplasia. The present invention uses mutations linked to canine hip dysplasia to generate a model predicting disease.

Abstract: The present invention provides a method of testing a dog to determine the susceptibility of the dog to liver copper accumulation, comprising detecting in a sample the presence or absence in the genome of the dog of one or more polymorphisms selected from: (a) Chr22_3167534 (SEQ ID NO: 144), Chr22_3135144 (SEQ ID NO: 145), Chr20_55461150 (SEQ ID NO: 146), ChrX_120879711 (SEQ ID NO: 147), Chr19_6078084 (SEQ ID NO: 148), Chr15_62625262 (SEQ ID NO: 149), Chr14_39437543 (SEQ ID NO: 150), Chr15_62625024 (SEQ ID NO: 151), Chr3_86838677 (SEQ ID NO: 152), Chr24_4011833 (SEQ ID NO: 153), Chr18_60812198 (SEQ ID NO: 154), Chr10_65209946 (SEQ ID NO: 155), and the CGCCCC repeat at chromosome location 22:3135287; (b) one or more polymorphisms in linkage disequilibrium with a said polymorphism (a); and/or (c) Chr32_38904515 (SEQ ID NO: 156), Chr8_4892743 (SEQ ID NO: 157) and Chr8_4880518 (SEQ ID NO: 158).

Abstract: The present invention provides a method of diagnosing the existence or risk of hyperthyroidism in a feline comprising measuring the level of expression of one or more biomarkers selected from the group consisting of e.g., IYD, TG, SLC5A5, NIS, TPO, TSHR, DUOX1, DUOX2 (ThOX), TGFB1, CSTD, DCN and SEPP1 and the expression products thereof, in a biological sample from the feline, wherein elevated expression of the one or more biomarkers in the sample relative to a control value for expression in a sample from a normal feline or feline population, or a baseline value from the feline, indicates the existence or risk of hyperthyroidism; a method of treating a feline so diagnosed; and compositions, reagents and kits for carrying out the specified methods.

Abstract: The present invention provides method of classifying a subject into a necrotizing meningoencephalitis (NME) disease risk group. The method may include assessing the presence of one or more marker (e.g., SNPs or risk loci) in a sample from the subject. For example, detection of the presence of one or more markers that are associated with an increased risk of NME can indicate that the subject should be classified into a risk group.

Abstract: The present disclosure relates generally to the field of epigenetics and in particular epigenetic profiles associated with a pathological condition. The present specification teaches screening of individuals and populations for epigenetic profiles associated with a pathological condition. The epigenetic profiles can be from an intron, an intron/exon boundary or a splicing region. Epigenetic profiles are disclosed from the following sites in the FMR locus: FREE3, intron 2 of FMR1, the genomic FREE2 region as a whole or specific FREE2 fragments including FREE2 (D) or FREE2 (E). Kits and diagnostic assays are also taught herein as are computer programs to monitor changes in epigenetic patterns and profiles. Further enabled herein is a method for screening for agents which can reduce or mask the adverse effects of epigenetic modification and the use of these agents in therapy and prophylaxis.

Abstract: Provided herein are methods and compositions for determining the susceptibility of cattle to High Altitude Pulmonary Hypertension. Also provide are kits and reagents for performing such methods.

Abstract: Method and kits for diagnosing propensity to non-contact cranial cruciate ligament rupture (CCLR) in a dog are described. The method includes isolating genomic DNA from a dog and then analyzing the genomic DNA from step for a single nucleotide polymorphism occurring in selected loci that have been determined to be associated with the CCLR phenotype via a genome-wide association study.

Abstract: The disclosure includes methods of identifying a dog at risk of developing a an autoimmune disease or condition, for example a hypothyroid disease or condition, comprising testing whether the dog exhibits one or more selected single nucleotide polymorphisms (SNPs), together with diagnostic kits for carrying out such methods, methods of treatment or prophylaxis of such autoimmune disease or condition, e.g., comprising administering an effective amount of tea extract to a dog in need thereof, and a canine diet or supplement comprising tea extract, useful for treatment of prophylaxis of such autoimmune disease or condition, or for maintenance of thyroid health in a dog.

Abstract: The present application concerns methods and tools for diagnosing prostate cancer and furthermore concerns methods and tools for prognosing disease progression of prostate cancer. The method comprises determining methylation level of the genes C1orf114, HAPLN3, AOX1, GAS6, ST6GALNAC3 and ZNF660 and comparing the result with a control, thus obtaining a response which is used for diagnosing a prostate cancer and/or for prognosing aspects of an individual suffering from prostate cancer.

Abstract: The present invention features compositions and methods for detecting Huanglongbing (HLB) in citrus trees and insects. In one aspect, the invention provides a method of detecting a Huanglongbing (HLB) infection in a citrus grove involving obtaining an extract from a biological sample derived from a citrus grove, contacting the extract with forward and reverse primers that specifically bind a Candidutus nucleic acid molecule in the presence of a nicking enzyme, dNTPs, and a polymerase under conditions permissive for the isothermal amplification of the nucleic acid molecule; and detecting a Candidutus amplicon in the extract.

Abstract: The invention disclosed herein is based on the identification of novel mutations in the JAK2 gene and JAK2 protein. The invention provides compositions and methods useful for diagnosing hematopoietic diseases including, for example, myeloproliferative diseases. The invention also provides compositions and methods useful for determining a prognosis of an individual diagnosed as having a hematopoietic disease.

Abstract: The present invention relates to methods for predicting the outcome of anthracycline treatment of cell proliferative disorder patients. This is achieved by determining the expression level of at least one gene selected from the group consisting of PITX2; TFF1 and PLAU. The invention also relates to sequences, oligonucleotides and antibodies which can be used within the described methods.

Abstract: The invention pertains to analyzing the levels of DNA methylation at specific genetic loci to detect specific body fluids, for example, vaginal secretions or vaginal epithelial cells, semen or sperms, saliva or buccal epithelial cells, or blood or blood cells. Particularly, the levels of methylation of DNA at the genetic loci corresponding to SEQ ID NOs: 1, 6, 11, and 16 are used to detect vaginal secretions or vaginal epithelial cells, semen or sperms, saliva or buccal epithelial cells, and blood or blood cells, respectively. The level of methylation at the specific loci can be determined by high-resolution melt analysis (HRM) or sequencing of the amplicons produced using specific primers designed to amplify the specific loci. Kits containing the primers and reagents for carrying out the methods disclosed herein are also provided.