University of Utah Research Foundation

National Institutes of Health, a Component of the US Dept. of Health & Human Services

The Johns Hopkins University

Baylor College of Medicine

Lineagen, Inc.

Other

Board of Regents of the Nevada System of Higher Education

Nanda A. Singh

Mark F. Leppert

Carole Charlier

Mark F Leppert

Nanda A Singh

Michael C Dean

Rando L Allikmets

James R Lupski

Philip M Smallwood

Jeremy Nathans

Noah F Shroyer

Richard A Lewis

Hui Sun

Kent L Anderson

Yixin Li

Amir Rattner

Dennis Drayna

Un-Kyung Kim

Mark T Keating

Raymond L White

Colleen A Morris

Peter O'Connell

Yusuke Nakamura

Richard Dale Smith

Jason W Flora

Brandt B Jones

Edwin J C G Van Den Oord

John D Kriesel

Edward Lenn Murrelle

Barbara K Zedler

Midvale

John W Rose

Bradley Todd Webb

Jeffrey S Edmiston

Maurine R Hobbs

Brith E M Otterud

Sportswood L Spruance

Timothy York

Gaurav S J B Rana

Joel Gardner Pounds

Robert Mark Gritz

Michael S Paul

Mary Beth Scholand

John Hoidal

Willie J McKinney

Nori Matsunami

Alex S Lindell

William M Mcmahon

Cigarette smoking is a primary determinant of chronic obstructive pulmonary disease (COPD), which is the fourth leading cause of morbidity and mortality in the United States. Unique proteins associated with COPD capable of differentiating subjects likely to experience rapid (RPD) or slow (SLW) decline in lung function have been identified using comprehensive high-throughput proteomic approaches. Thirty peptides, which mapped to 21 unique proteins, were linearly associated with annualized rates of lung function decline among smokers with COPD characterized as having rapid or slow decline and smokers without COPD. Using three different statistical approaches to assess the data, the RPD and SLW groups are differentiated by 55 peptides, which mapped to 33 unique proteins. A number of the identified peptides are proteolytic fragments of proteins that are involved in the complement and/or coagulation systems, have anti-protease activity, or metabolic functions.

Biomarkers of lung function

Methods are disclosed for generating and isolating an informative content repository of respiratory related biomarkers to accurately determine whether an individual has normal or abnormal pulmonary function. Specifically, methods are directed to determination of whether individuals have chronic obstructive pulmonary disease, and if so, whether the affected individuals experience rapid long decline or slow lung decline as a result of COPD. Also disclosed is an informative content repository of chronic obstructive pulmonary disease biomarkers, which when linked with other informative content provides a powerful tool for diagnosis, study, therapeutic discovery and development, condition management, health maintenance, and linking chronic obstructive pulmonary disease through pattern of life style, environmental exposure, and genetic susceptibility and inheritance. Disclosed herein is a chronic obstructive pulmonary disease biomarker informative content repository comprising at least one COPD biomarker, apparatus and methods to diagnose, assess, address, and ameliorate related conditions.

Apparatus, compositions, and methods for assessment of chronic obstructive pulmonary disease progression among rapid and slow decline conditions

Described are mutant Na1.7 sodium channel alpha-subunits and nucleic acid sequences encoding such mutants. Further described are methods for characterizing a nucleic acid sequence that encodes a Na1.7 sodium channel alpha-subunit, methods for determining a Na1.7 haplotype, methods for determining a subject's predisposition to a neurologic disorder associated with a sodium channel mutation, and methods of identifying a compound that modulates mutant Na1.7 sodium channels. Other materials, compositions, articles, devices, and methods relating to mutant Na1.7 sodium channels are also described herein.

Mutant sodium channel Nav1.7 and methods related thereto

Generalized idiopathic epilepsies (IGE) cause 40% of all seizures and commonly have a genetic basis. One type of IGE is Benign Familial Neonatal Convulsions (BFNC), a dominantly inherited disorder of newborns. A submicroscopic deletion of chromosome 20q13.3 which co-segregates with seizures in a BFNC family has been identified. Characterization of cDNAs spanning the deleted region identified a novel voltage-gated potassium channel, KCNQ2, which belongs to a new KCNQ1-like class of potassium channels. Nine other BFNC probands were shown to have KCNQ2 mutations including three missense mutations, three frameshifts, two nonsense mutations, and one splice site mutation. A second gene, KCNQ3, was found in a separate BFNC family in which the mutation had been localized to chromosome 8. A missense mutation was found in this gene in perfect cosegregation with the BFNC phenotype in this latter family. This demonstrates that defects in potassium channels can cause epilepsy. Furthermore, some members of one of the BFNC families with a mutation in KCNQ2 also exhibited rolandic epilepsy and one individual with juvenile myoclonic epilepsy has a mutation in an alternative exon of KCNQ3.

KCNQ2 and KCNQ3&#x2014;potassium channel genes which are mutated in benign familial neonatal convulsions (BFNC) and other epilepsies

The invention provides isolated nucleic and amino acid sequences of a taste cell receptor that serves as a sensor for the bitter taste of phenylthiocarbamide (PTC), antibodies to such PTC taste receptor, methods of detecting such nucleic and amino acid sequences, and methods of screening for modulators of such PTC taste receptor.

Phenylthiocarbamide (PTC) taste receptor

The present invention provides nucleic acid and amino acid sequences of an ATP binding cassette transporter and mutated sequences thereof associated with macular degeneration. Methods of detecting agents that modify ATP-binding cassette transporter comprising combining purified ATP binding cassette transporter and at least one agent suspected of modifying the ATP binding cassette transporter an observing a change in at least one characteristic associated with ATP binding cassette transporter. Methods of detecting macular degeneration is also embodied by the present invention.

Methods of gene therapy using nucleic acid sequences for ATP-binding cassette transporter

Described are mutant Na1.7 sodium channel alpha-subunits and nucleic acid sequences encoding such mutants. Further described are methods for characterizing a nucleic acid sequence that encodes a Na1 sodium channel alpha-subunit, methods for determining a Na1.7 haplotype, methods for determining a subject's predisposition to a neurologic disorder associated with a sodium channel mutation, and methods of identifying a compound that modulates mutant Na1.7 sodium channels. Other materials, compositions, articles, devices, and methods relating to mutant Na1.7 sodium channels are also described herein.

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The invention maps a herpes simplex labialis (HSL) susceptibility gene associated with HSL to the q11 region of chromosome 21. The invention provides methods of screening for susceptibility or resistance to herpes simplex virus, particularly herpes simplex labialis, and diagnosing herpetic diseases, such as HSL.

Diagnosis and treatment of herpes simplex virus diseases

Methods of screening and diagnostics using ATP-binding cassette transporter

Nucleic acid and amino acid sequences for ATP-binding cassette transporter and methods of screening for agents that modify ATP-binding cassette transporter

Growing community of inventors

Salt Lake City, UT, United States of America

Mark F Leppert