C12Q2600/118

Diagnosis of inflammatory bowel disease based on genes

The present invention describes a method of prognosing high or low probability of developing an inflammatory bowel disease (IBD) in a subject and a method of diagnosing an inflammatory bowel disease (IBD) in a subject. The invention further provides for a method of identifying genes/genetic loci associated with a disease condition, such as IBD, CD and/or UC.

Products for assessing colorectal cancer molecular subtype and risk of recurrence and for determining and administering treatment protocols based thereon
11549152 · 2023-01-10 · ·

Products, systems, and methods for classifying human colorectal cancer into a consensus molecular subtype (CMS) and for assessing risk of recurrence based on CMS scores and based on risk scores derived from abbreviated gene expression profiles, for determining suitable treatment protocols for human colorectal cancer patients based on the determined CMS classification and based on the determined risk of recurrence, and for administering the suitable treatment protocols.

Method for assisting prediction of risk of occurrence of side effect of irinotecan

An object of the present invention is to provide a simple and efficient device for predicting a risk of occurrence of a side effect of irinotecan by analyzing a single nucleotide polymorphism in a region encoding a specific gene. The prediction of the risk of the occurrence of a side effect of irinotecan is assisted by analyzing a single nucleotide polymorphism in a region encoding the APCDD1L gene, the R3HCC1 gene, the OR51I2 gene, the MKKS gene, the EDEM3 gene, or the ACOX1 gene which are present on genomic DNA in a biological sample collected from a test subject; or a single nucleotide polymorphism which is in linkage disequilibrium with or genetically linked to the single nucleotide polymorphism, and determining whether the single nucleotide polymorphism is homozygous for a variant type, heterozygous, or homozygous for a wild-type.

Gene expression profiles for B-cell lymphoma and uses thereof

The present invention relates to gene expression profiles for B-cell lymphoma. More specifically, the present invention relates to gene expression profiles for diagnosis, prognosis or therapy selection for an aggressive B-cell lymphoma.

CARBAZOLE-CONTAINING AMIDES, CARBAMATES, AND UREAS AS CRYPTOCHROME MODULATORS
20220411399 · 2022-12-29 ·

The subject matter herein is directed to carbazole-containing amide, carbamate, and urea derivatives and pharmaceutically acceptable salts or hydrates thereof of structural formula I wherein the variable R.sub.1, R.sub.2, R.sub.3, R.sub.4, R.sub.5, R.sub.6, R.sub.7, A, D, E, G, J, L, M, Q, a, and b are accordingly described. Also provided are pharmaceutical compositions containing the compounds of formula I to treat a Cry-mediated disease or disorder, such as diabetes, complications associated with diabetes, Cushing's syndrome, NASH, NAFLD, asthma, and COPD.

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METHODS AND COMPOSITIONS FOR DIAGNOSING AND TREATING CHRONIC MYELOMONOCYTIC LEUKEMIA (CMML)

In the present invention, inventors have used high throughput sequencing to identify novel mutations in ABCA1 in CM ML patient samples. Further studies in a mouse model of myelomonocytic leukemia driven by hematopoietic Tet2 deficiency have shown that these somatic mutations abrogate the tumor suppressor function of WT ABCA1, resulting in the failure to suppress canonical IL3-receptor beta signaling-driven myelopoiesis. The loss of the myelo-suppressive function of ABCA1 mutants can be overcome by raising HDL levels through overexpression of the human apolipoprotein A-1 (apoA-1) transgene. Inventors have also shown that both IL-3Rbeta blocking antibody and cyclodextrin prevented the proliferation of ABCA1 mutant-transduced Tet2 deficient BM cells similar to the effect of ABCA1-WT overexpression. Accordingly, the invention relates to a method for predicting the survival time of a subject NI suffering from CM ML comprising the step identifying at least one ABCA1 and to a method for treating said subject with HDL/ABCA recombinant (ApoA-1); cylodextrin and/or anti-IL-3Rbeta antibody.

Typing method

The invention provides a method of determining the epigenetic chromosome interactions which are relevant to an epigenetic test for a neurodegenerative condition.

Method and kit for predicting the risk of deep vein thrombosis and pulmonary embolism

Specific single nucleotide polymorphisms (SNPs) in the human genome, and their association with deep vein thrombosis (DVT) and related pathologies, such as pulmonary embolism (PE).

METHODS FOR DETERMINING THE INVASIVE AND/OR METASTATIC POTENTIAL OF A TUMOUR
20220404365 · 2022-12-22 ·

The invention provides methods for determining tumour status in a subject comprising the steps of: (i) determining a quantitative value in a sample taken from a subject of a first biomarker selected from the group consisting of Ran, Ran binding protein 1, an active fragment of a Ran protein, a nucleic acid sequence encoding Ran, a nucleic acid sequence encoding Ran binding protein 1, a nucleic acid sequence encoding an active fragment of Ran and a nucleic acid sequence encoding an active fragment of Ran binding protein 1; (ii) comparing the quantitative value of the first biomarker in the sample with a selected pre-determined threshold value of the first biomarker; (iii) determining a quantitative value in a sample from the same subject of a second biomarker selected from the group consisting of MMP2, an active fragment of MMP2, a nucleic acid sequence encoding MMP2 and a nucleic acid sequence encoding an active fragment of MMP2; (iv) comparing the quantitative value of the second biomarker in the sample with a selected pre-determined threshold value of the second biomarker; wherein the quantitative values of the first marker and the second biomarkers in the sample as compared to their respective selected pre-determined threshold values indicate whether or not the tumour sample has invasive and/or metastatic potential.

METHODS FOR DETECTING COLORECTAL CANCER
20220403473 · 2022-12-22 ·

The present invention relates to the field of pharmacogenomics and in particular to detecting the presence or absence of methylated genomic DNA derived from colorectal cancer cells in biological samples such as body fluids that contain circulating DNA from the cancer cells. This detection is useful for an early and reliable diagnosis of colorectal cancer and the invention provides methods and oligonucleotides suitable for this purpose.