University System of Maryland

Regeneron Pharmaceuticals, Inc.

The Johns Hopkins University

Regeneran Pharmaceuticals, Inc.

Alan R Shuldiner

Da-Wei Gong

Jesper Gromada

Aris I Baras

Xiping Cheng

Frederick E Dewey

Noura S Abul-Husn

Yurong Xin

Omri Gottesman

Alexander Li

Cristopher Van Hout

Nehal Gosalia

Rongze Yang

John C McLenithan

James A Perry

Suzanne Hartford

Jeremy D Walston

Evangelos Pefanis

Rong-Ze Yang

Kristi Silver

Jesse Roth

Gregory Hinkle

Stuart Milstein

Frederic Tremblay

Giusy Della Gatta

Daozhan Yu

May Montasser

Matthew Healy

Marja Puurunen

Ling Chen

Provided are compositions related to HSD17B13 variants, including nucleic acid molecules and polypeptides related to variants of HSD17B13, and cells comprising those nucleic acid molecules and polypeptides. Also provided are methods related to HSD17B3 variants. Such methods include methods for detecting the presence of the HSD17B13 rs72613567 variant in a biological sample comprising genomic DNA, for detecting the presence or levels of any one of variant HSD17B13 Transcripts C, D, E, F, G, and H, and particularly D, in a biological sample comprising mRNA or cDNA, or for detecting the presence or levels of any one of variant HSD17B13 protein Isoforms C, D, E, F, G, or H, and particularly D, in a biological sample comprising protein. Also provided are methods for determining a subject's susceptibility to developing a liver disease or of diagnosing a subject with liver disease.

HSD17B13 variants and uses thereof

Provided are compositions related to HSD17B13 variants, including nucleic acid molecules and polypeptides related to variants of HSD17B13, and cells comprising those nucleic acid molecules and polypeptides. Also provided are methods related to HSD17B13 variants. Such methods include methods for detecting the presence of the HSD17B13 rs72613567 variant in a biological sample comprising genomic DNA, for detecting the presence or levels of any one of variant HSD17B13 Transcripts C, D, E, F, G, and H, and particularly D, in a biological sample comprising mRNA or cDNA, or for detecting the presence or levels of any one of variant HSD17B13 protein Isoforms C, D, E, F, G, or H, and particularly D, in a biological sample comprising protein. Also provided are methods for determining a subject's susceptibility to developing a liver disease or of diagnosing a subject with liver disease.

The present disclosure provides methods of treating patients having decreased bone mineral density, methods of identifying subjects having increased risk of developing decreased bone mineral density, methods of detecting human Zinc And Ring Finger 3 (ZNRF3) variant nucleic acid molecules and variant polypeptides, and ZNRF3 variant nucleic acid molecules and variant polypeptides.

Treatment of decreased bone mineral density with zinc and ring finger 3 (ZNRF3) inhibitors

The present disclosure provides methods of treating subjects having increased lipid levels, methods of identifying subjects having an increased risk of developing an increased lipid level, methods of detecting human Sterol Regulatory Element Binding Transcription Factor 1 (SREBF1) variant nucleic acid molecules and variant polypeptides, and SREBF1 variant nucleic acid molecules and variant polypeptides.

Treatment of increased lipid levels with sterol regulatory element binding transcription factor 1 (SREBF1) inhibitors

Provided are compositions related to HSD17B13 variants, including isolated nucleic acids and proteins related to variants of HSD17B13, and cells comprising those nucleic acids and proteins. Also provided are methods related to HSD17B13 variants. Such methods include methods for modifying a cell through use of any combination of nuclease agents, exogenous donor sequences, transcriptional activators, transcriptional repressors, and expression vectors for expressing a recombinant HSD17B13 gene or a nucleic acid encoding an HSD17B13 protein. Also provided are therapeutic and prophylactic methods for treating a subject having or at risk of developing chronic liver disease.

The present disclosure provides methods of treating subjects having increased lipid levels and/or increased triglyceride levels, methods of identifying subjects having an increased risk of developing an increased lipid level and/or increased triglyceride level, methods of detecting human Sterol Regulatory Element Binding Protein Cleavage-Activating Protein (SCAP) variant nucleic acid molecules and variant polypeptides, and SCAP variant nucleic acid molecules and variant polypeptides.

Treatment of increased lipid levels with sterol regulatory element binding protein cleavage-activating protein (SCAP) inhibitors

The invention relates to double-stranded ribonucleic acid (dsRNA) compositions targeting the HSD17B13 gene, as well as methods of inhibiting expression of HSD17B13, and methods of treating subjects that would benefit from reduction in expression of HSD17B13, such as subjects having a HSD17B13-associated disease, disorder, or condition, using such dsRNA compositions.

17&#x3b2;-hydroxysteroid dehydrogenase type 13 (HSD17B13) iRNA compositions and methods of use thereof

Variant B4GALT1 genomic, mRNA, and cDNA nucleic acid molecules, and polypeptides, methods of detecting the presence of these molecules, methods of modulating endogenous B4GALT1 genomic, mRNA, and cDNA nucleic acid molecules, and polypeptides, methods of ascertaining the risk of developing cardiovascular conditions by detecting the presence or absence of the variant B4GALT1 genomic, mRNA, and cDNA nucleic acid molecules, and polypeptides, and methods of treating cardiovascular conditions are provided herein.

B4GALT1 cDNA variants and compositions comprising the same

The present invention generally to methods of treating subjects suffering from a cardiac condition or having a risk factor for developing a cardiac condition by administering an ELA peptide or fusion protein to a subject in need. The invention relates to fusion proteins of Fc-ELA-32 and Fc-ELA-21 that exhibit improved properties for use as therapeutic agents, e.g. in the treatment of cardiac conditions. In addition, the present invention relates to polynucleotides encoding such fusion proteins, and vectors and host cells comprising such polynucleotides. The invention further relates to methods for producing the fusion proteins of the invention, and to methods of using them in the treatment of disease.

Methods for treating cardiovascular dysfunction and improving fluid homeostasis with Elabela peptide hormone

The present invention is directed to methods of diagnosing a disease or predicting an increased risk of a disease, such as obesity, obesity-dependent subacute inflammation, atherosclerosis, cardiovascular disease and a metabolic disease, by determining the levels of omentin 1 and 2 protein in a subject, or by determining the levels of omentin 1 and 2 gene expression in a subject. The present invention is also directed to methods of disease treatment using omentin 1 protein and omentin 2 protein.

Method of diagnosing or predicting disease states in a subject using omentin 1 and omentin 2

Novel alanine transaminase (ALT) polypeptides and the use thereof as a diagnostic marker to predict and monitor tissue damage and/or tissue malfunction. The ALT polypeptides are murine and/orALT polypeptides and said ALT polypeptides are used to detect, predict and/or determine hepatic processes of an animal, particularly mice and/or rats.

Alanine transaminase enzymes and methods of use

Isolated omentin polypeptides that selectively express in omental fat tissue and methods for the use of the polypeptides. The polypeptides can be used in a method for modifying insulin action and/or glucose metabolism in an animal. The polypeptides can be used to promote glucose uptake by animal adipocytes and other cells, tissues, and/or organs. The polypeptides can also used to provide a therapeutic treatment for diseases of or related to glucose metabolism and adipose tissues. The polypeptides are also incorporated into diagnostic tests and testing kits for diagnosing or detecting a disease or condition involving animal tissue that contains, uses, or expresses the polypeptide in an animal suspected of having the disease or condition.

Method of modifying glucose activity using polypeptides selectively expressed in fat tissue

The present invention provides a novel polypeptide characterized by a non-conservative missense mutation, Trp64Arg, in the .beta.3-adrenergic receptor (.beta.3AR) that increases susceptibility to obesity and non-insulin dependent diabetes mellitus (NIDDM; type II diabetes). Also provided are methods of diagnosis and methods of treatment of subjects having or at risk of having type II diabetes/obesity.

Growing community of inventors

Columbia, MD, United States of America

Alan R Shuldiner