Abstract: The present invention relates to the proline rich transmembrane protein 2 (PRRT2) gene, and the identification of mutations and variations in PRRT2 that give rise to seizure and movement disorders. Accordingly, the present invention provides methods for the diagnosis or prognosis of such disorders by identifying alterations in the PRRT2 gene. Identification of alterations in the PRRT2 gene also enables the identification of subjects with an increased likelihood of having an offspring predisposed to such disorders. The present invention also provides an isolated nucleic acid molecule comprising an alteration in the PRRT2 gene, wherein said alteration produces a seizure and/or movement disorder phenotype. Also provided is an isolated PRRT2 polypeptide that comprises an alteration which produces a seizure and/or movement disorder phenotype.
Type:
Grant
Filed:
July 28, 2017
Date of Patent:
October 18, 2022
Assignees:
The University of Melbourne, Central Adelaide Local Health Network Incorporated, Itek Ventures PTY Ltd (University of South Australia)
Inventors:
Sarah Elizabeth Heron, Leanne Michelle Dibbens, Samuel Frank Berkovic, Ingrid Eileen Scheffer, John Charles Mulley
Abstract: Provided are methods for detecting or diagnosing a traumatic brain injury or TBI by detecting concentration levels miRNAs associated with TBI in saliva. Methods for controlled and normalized comparisons of salivary miRNA concentration levels are further provided. Assay kits comprising salivary miRNAs, probes and/or primers for detecting salivary miRNAs are also provided.
Type:
Grant
Filed:
March 23, 2018
Date of Patent:
September 27, 2022
Assignees:
QUADRANT BIOSCIENCES INC., THE RESEARCH FOUNDATION FOR THE STATE UNIVERSITY OF NEW YORK, PENN STATE RESEARCH FOUNDATION
Inventors:
Steven D. Hicks, Frank A. Middleton, Richard Uhlig
Abstract: The present invention relates to refined prognostic clinical tools, methods, and kits for the evaluation of risk and treatment of distant recurrence in ER+/HER2? breast cancer patients.
Type:
Grant
Filed:
June 19, 2017
Date of Patent:
September 13, 2022
Assignees:
Istituto Europeo di Oncologia S.r.l., Fondazione Istituto Firc di Oncologia Molecolare (IFOM), University of Milan
Inventors:
Pier Paolo Di Fiore, Salvatore Pece, Manuela Vecchi, Stefano Confalonieri
Abstract: The present disclosure provides methods and systems directed to detection of prostate cancer. A method for processing or analyzing DNA molecules from a biological sample of a subject may comprise processing (a) providing a first set of DNA fragments derived from a first portion of the DNA molecules upon subjecting the first portion to CpG site fragmentation conditions; (b) providing a second set of DNA fragments derived from a second portion of the DNA molecules, the second portion not subjected to fragmentation conditions; (c) for a genomic region, processing the first and the second sets of DNA fragments or derivatives thereof to yield first and second quantitative measures of DNA methylation; and (d) processing the first quantitative measure with the second quantitative measure to yield a third quantitative measure of DNA methylation at the genomic region, thereby generating a methylation profile of the DNA molecules at the genomic region.
Abstract: The present invention relates to a method for predicting the risk of having the CLAD in a subject by measuring the expression level of TCL1A in a biological sample obtained from said subject. Inventors have used a large-scale gene expression profiling of whole blood cells to identify early biomarkers of BOS. Microarray experiments performed from 80 patients (40 stable (STA) and 40 BOS) identified 47 genes differentially expressed between STA and BOS recipients. An independent set of patients (13 STA, 11 BOS) was then used for external validation by qPCR. T-cell leukemia/lymphoma protein 1A (TCL1A) gene was identified and validated as a predictive marker of BOS more than 6 months before diagnosis with area under curve of 0.77. Accordingly, the invention relates to a method for predicting the risk of having the chronic lung allograft dysfunction (CLAD) and to a method for preventing the risk of having CLAD by administering immunosuppressive drugs.
Type:
Grant
Filed:
June 26, 2018
Date of Patent:
August 23, 2022
Assignees:
INSERM (INSTITUTE NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE), UNIVERSITE DE NANTES, CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE, CENTRE HOSPITALIER UNIVERSITAIRE DE NANTES
Inventors:
Richard Danger, Sophie Brouard, Pierre-Joseph Royer, Antoine Magnan
Abstract: A risk stratification method for a patient in a disease state and specifically patients presenting a tumor, includes determining if the patient is a homozygote or heterozygote and further determining the allelic expression for the patient, CC, T/C, or C/T. For patients having the cytosine methylated, they have a C/T allelic expression and patients without a methylated cytosine have a T/C allelic expression. A patient with a TT allelic expression is classified as a highest risk patient, a patient with a T/C allelic expression is classified as a second highest risk patient, a patient with a C/T allelic expression is classified as a third highest risk patient and a patient with a CC allelic expression is classified as a lowest risk patient. The risk stratification method may further include identification of an abnormal expression or mutation/function of a gene product produced by CTCF binding site 6.
Abstract: Methods are described for the efficient and accurate detection of bladder cancer. In particular, the method utilizes microsatellite analysis of bladder cancer markers to determine the presence of loss of heterozygosity or microsatellite instability using matched buccal swab and urine samples from a patient. In some cancer marker panels, detected loss of heterozygosity or microsatellite instability in two markers can be indicative of bladder cancer.
Abstract: This document provides methods and materials related to genetic variations of developmental disorders. For example, this document provides methods for using such genetic variations to assess susceptibility of developing Autism Spectrum Disorder.
Abstract: Provided are compositions and processes that utilize genomic regions that are differentially methylated between a mother and her fetus to separate, isolate or enrich fetal nucleic acid from a maternal sample. The compositions and processes described herein are particularly useful for non-invasive prenatal diagnostics, including the detection of chromosomal aneuploidies.
Abstract: The present invention is based, in part, on the identification of novel methods for defining predictive biomarkers of response to anti-cancer drugs.
Type:
Grant
Filed:
December 28, 2018
Date of Patent:
April 12, 2022
Assignees:
Children's Medical Center Corporation, The Technical University of Denmark, Dana-Farber Cancer Institute, Inc., The Brigham and Women's Hospital, Inc.
Inventors:
Zoltan Szallasi, Nicolai Juul Birkbak, Aron Eklund, Daniel Silver, Zhigang Wang, Andrea Richardson
Abstract: The present invention relates generally to a method of screening for the onset, predisposition to the onset and/or progression of a neoplasm. More particularly, the present invention relates to a method of screening for the onset, predisposition to the onset and/or progression of a neoplasm by screening for changes to the methylation levels of a panel of gene markers including BCAT1, IKZF1, IRF4, GRASP and/or CAHM. The method of the present invention is useful in a range of applications including, but not limited to, those relating to the diagnosis and/or monitoring of colorectal neoplasms, such as colorectal adenocarcinosis.
Type:
Grant
Filed:
May 10, 2013
Date of Patent:
February 22, 2022
Assignees:
CLINICAL GENOMICS PTY. LTD., COMMONWEALTH SCIENTIFIC AND INDUSTRIAL RESEARCH ORGANIZATION
Inventors:
Peter Molloy, Lawrence Lapointe, Susanne Pedersen
Abstract: The invention provides compositions and methods for identifying autism and autism spectrum disorders in humans. The invention also includes compositions and methods for identifying unique blood-based gene expression profiles in children with regressive autism spectrum disorder (ASD) and ileocolitis.
Abstract: A method of identifying a subject having a bacterial infection, which includes discriminating said subject from a subject having a viral infection or an inflammatory disease. Also provided is a gene signature employed in the method and to a bespoke gene chip for use in the method. Further provided are probes and/or primers specific to genes in a signature of the present disclosure.
Type:
Grant
Filed:
July 12, 2017
Date of Patent:
February 15, 2022
Assignee:
Imperial College of Science, Technology and Medicine
Inventors:
Michael Levin, Myrsini Kaforou, Jethro A. Herberg, Victoria J. Wright, Lachlan J. M. Coin
Abstract: The present invention relates to oncogenes or tumor suppressor genes, as well as other genes, involved in prostate cancer and their expression products, as well as derivatives and analogs thereof. Provided are therapeutic compositions and methods of detecting and treating cancer, including prostate and other related cancers. Also provided are methods of diagnosing and/or prognosing prostate cancer by determining the expression level of at least one prostate cancer-cell-specific gene, including, for example, the ERG gene or the LTF gene alone, or in combination with at least one of the AMACR gene and the DD3 gene.
Type:
Grant
Filed:
May 11, 2018
Date of Patent:
February 1, 2022
Assignee:
The Henry M. Jackson Foundation for the Advancement of Military Medicine, Inc.
Abstract: The present invention relates to methods of prognosing responsiveness to anti-TNF? therapy by determining the presence or absence of risk factors in the individual. In one embodiment, the risk factors are genetic markers, serological markers and/or clinical phenotypes associated with non-responsiveness to treatment with anti-TNF? therapy in an individual diagnosed with IBD.
Type:
Grant
Filed:
July 2, 2018
Date of Patent:
February 1, 2022
Assignee:
CEDARS-SINAI MEDICAL CENTER
Inventors:
Jerome I. Rotter, Marla Dubinsky, Stephan R. Targan, Kent D. Taylor
Abstract: The present invention relates to methods for predicting the efficacy of anthracycline-based neo-adjuvant chemotherapy in triple-negative breast cancer. This is achieved by determining epigenetic changes within the PITX2 gene. Detection of the methylation state of Cp G sites in a genomic sequence of PITX2 allows an estimate of the response or failure of an individual breast cancer patient to neo-adjuvant therapy.
Type:
Grant
Filed:
February 10, 2017
Date of Patent:
January 25, 2022
Inventors:
Manfred Schmitt, Olaf G. Wilhelm, Rudolf Napieralski
Abstract: Methods for diagnosing and treating autism spectral disorders are encompassed. In one embodiment, a patient is diagnosed as having autism spectral disorder if at least one CNV in an mGluR network gene is found in a patient sample. Patients with at least one mGluR network gene CNV are effectively treated with (+)-5-oxo-Dprolinepiperidinamide monohydrate (NS-105).
Abstract: Methods and kits for diagnosing or predicting the risk of developing psoriatic arthritis in a subject in need of such diagnosis or risk prediction are provided, comprising measuring the expression level of one or more miRNAs disclosed herein in the sample of the subject, and compared the expression level of at least one of the miRNAs in the test sample with that of the psoriatic arthritis-free sample. Also provided are methods of treating psoriatic arthritis by reducing the expression level of at least one of the miRNAs disclosed herein.
Abstract: The present invention is a method, comprising: obtaining a sample of an esophageal tissue from a subject, wherein the sample of the esophageal tissue comprises or is suspected of comprising a break of chromosome 2 (chr2), a break of chromosome 10 (chr10), a break of chromosome 16 (chr16), or any combination thereof, and detecting in the sample of esophageal tissue whether the break of chr2 is present, whether the break of chr10 is present, whether the break of chr16 is present, or any combination thereof, by contacting the sample of esophageal tissue with a first detectably labeled probe, a second detectably labeled probe, a third detectably labeled probe, or any combination thereof, and detecting binding between: the first detectably labeled probe and the break of chr2, the second detectably labeled probe and the break of chr10, the third detectably labeled probe and the break of chr16, or any combination thereof.
Type:
Grant
Filed:
March 8, 2017
Date of Patent:
January 11, 2022
Assignee:
RUTGERS, THE STATE UNIVERSITY OF NEW JERSEY
Abstract: The invention relates generally to the use of microvesicle RNA signatures for diagnosis, predicting, and/or to monitor treatment efficacy, including patients who are candidates for renal transplant and/or who have received a renal transplant.
Type:
Grant
Filed:
May 5, 2017
Date of Patent:
January 4, 2022
Assignees:
Exosome Diagnostics, Inc., The Brigham and Women's Hospital