Abstract: The present disclosure relates to the identification of a subject that is affected with, or predisposed to, autism or to one or more autism spectrum disorders (ASD). The present disclosure includes methods related to the association of certain genetic markers with autism and/or ASD. More particularly, the present disclosure is related to methods and diagnostic tests for diagnosing or predicting ASD in an individual.

Abstract: The present disclosure relates to the identification of a subject that is affected with, or predisposed to, autism or to one or more autism spectrum disorders (ASD). The present disclosure includes methods related to the association of certain genetic markers with autism and/or ASD. More particularly, the present disclosure is related to methods and diagnostic tests for diagnosing or predicting ASD in an individual.

Abstract: 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.

Abstract: The technology provided herein relates to the SNPs identified as described herein, both singly and in combination, as well as to the use of these SNPs, and others in linkage disequilibrium with these SNPs, for diagnosis, prediction of clinical course, and/or treatment response for pulmonary disease such as COPD, development of new treatments for pulmonary disease such as COPD based upon comparison of the variant and normal versions of the gene or gene product, and development of cell-culture based and animal models for research and treatment of pulmonary disease such as COPD. The technology provided herein further relates to novel compounds, pharmaceutical compositions, and kits for use in the diagnosis, treatment, and evaluation of such disorders.

Abstract: The present disclosure relates to the identification of a subject that is affected with, or predisposed to, autism or to one or more autism spectrum disorders (ASD). The present disclosure includes methods related to the association of certain genetic markers with autism and/or ASD. More particularly, the present disclosure is related to methods and diagnostic tests for diagnosing or predicting ASD in an individual.

Abstract: The present disclosure relates to the identification of a subject that is affected with, or predisposed to, autism or to one or more autism spectrum disorders (ASD). The present disclosure includes methods related to the association of certain genetic markers with autism and/or ASD. More particularly, the present disclosure is related to methods and diagnostic tests for diagnosing or predicting ASD in an individual.

Abstract: The technology provided herein relates to the SNPs identified as described herein, both singly and in combination, as well as to the use of these SNPs, and others in linkage disequilibrium with these SNPs, for diagnosis, prediction of clinical course, and/or treatment response for pulmonary disease such as COPD, development of new treatments for pulmonary disease such as COPD based upon comparison of the variant and normal versions of the gene or gene product, and development of cell-culture based and animal models for research and treatment of pulmonary disease such as COPD. The technology provided herein further relates to novel compounds, pharmaceutical compositions, and kits for use in the diagnosis, treatment, and evaluation of such disorders.

Abstract: 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.

Abstract: Described herein are a group of 1,013 genes and 1 phenotypic variable are identified as candidate predictors that differentiated smokers (current or former) with or without COPD. The full predictor set can be reduced to a nine-gene classifier (IL6R, CCR2, PPP2CB, RASSF2, WTAP, DNTTIP2, GDAP1, LIPE, and RPL14) with similar performance. Also described herein is the use of the full predictor set and the reduced nine gene set in methods of diagnosing lung disease or an increased risk of developing lung disease, such as COPD, in a subject. Also described herein is the use of the full predictor set and the reduced nine gene set in methods of providing a prognosis for a subject with lung disease, such as COPD.

Abstract: 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.

Abstract: 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.

Abstract: 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.

Abstract: 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.

Abstract: 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.

Abstract: 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.

Abstract: 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.

Abstract: 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.

Abstract: 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.

Abstract: Described are mutant Nav1.7 sodium channel alpha-subunits and nucleic acid sequences encoding such mutants. Further described are methods for characterizing a nucleic acid sequence that encodes a Nav1 sodium channel alpha-subunit, methods for determining a Nav 1.7 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 Nav1.7 sodium channels. Other materials, compositions, articles, devices, and methods relating to mutant Nav1.7 sodium channels are also described herein.

Abstract: 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.