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188 results about "Genetic disorder" patented technology

A disease resulting from abnormality in the genome that is either inherited or acquired.

Non-invasive detection of fetal genetic traits

InactiveUS20050164241A1Facilitates non-invasive detectionComponent separationOther chemical processesPregnancyNon invasive
Blood plasma of pregnant women contains fetal and (generally>90%) maternal circulatory extracellular DNA. Most of said fetal DNA contains ≦500 base pairs, said maternal DNA having a greater size. Separation of circulatory extracellular DNA of <500 base pairs results in separation of fetal from maternal DNA. A fraction of a blood plasma or serum sample of a pregnant woman containing, due to size separation (e.g. by chromatography, density gradient centrifugation or nanotechnological methods), extracellular DNA substantially comprising ≦500 base pairs is useful for non-invasive detection of fetal genetic traits (including the fetal RhD gene in pregnancies at risk for HDN; fetal Y chromosome-specific sequences in pregnancies at risk for X chromosome-linked disorders; chromosomal aberrations; hereditary Mendelian genetic disorders and corresponding genetic markers; and traits decisive for paternity determination) by e.g. PCR, ligand chain reaction or probe hybridization techniques, or nucleic acid arrays.
Owner:SEQUENOM INC

Evaluating Genetic Disorders

ActiveUS20070259351A1Microbiological testing/measurementProteomicsGeneticsArray-Based Comparative Genomic Hybridization
The present invention relates to genetic analysis and evaluation utilizing copy-number variants or polymorphisms. The methods utilize array comparative genomic hybridization and PCR assays to identify the significance of copy number variations in a subject or subject group.
Owner:POPULATION BIO INC

Method for genetic testing of human embryos for chromosome abnormalities, segregating genetic disorders with or without a known mutation and mitochondrial disorders following in vitro fertilization (IVF), embryo culture and embryo biopsy

We describe a method for interrogating the content and primary structure of DNA by microarray analyses and to provide comprehensive genetic screening and diagnostics prior to embryo transfer within an IVF setting. We will accomplish this by the following claims: 1) an optimized embryo grading system, 2) a less invasive embryo biopsy with reduced cellular contamination, 3) an optimized DNA amplification protocol for single cells, 4) identify aneuploidy and structural chromosome abnormalities using microarrays, 5) identifying sub-telomeric chromosome rearrangements, 6) a modified DNA fingerprinting protocol, 7) determine imprinting and epigenetic changes in developing embryos, 8) performing genome-wide scans to clarify / diagnose multi-factorial genetic disease and to determine genotype / haplotype patterns that may predict future disease, 9) determining single gene disorders with or without a known DNA mutation, 10) determining mtDNA mutations and / or the combination of mtDNA and genomic (nuclear) DNA aberrations that cause genetic disease.
Owner:KEARNS WILLIAM G +1

Therapeutic delivery compositions and methods of use thereof

InactiveUS20020128218A1Reduce deliveryFacilitate transmission and introductionBiocidePeptide/protein ingredientsHydrophileNucleic acid sequencing
The present invention relates to compositions and methods for treating infectious diseases and genetic disorders through gene therapy and intracellular delivery of antisense oligonucleotides or other nucleic acid sequences. The present invention comprises a therapeutic delivery composition effective for treating a disease state comprising an administerable admixture of an effective amount of a therapeutic compound capable of altering nucleic acid sequence function and an effective amount of a block copolymer having the following general formula: 1 wherein: the mean aggregate molecular weight of the portion of the octablock copolymer represented by polyoxypropylene is between about 5000 and about 7000 Daltons; a is a number such that the portion represented by polyoxyethylene constitutes between about 10% to about 40% of the compound by weight; and b is a number such that the polyoxypropylene portion of the total molecular weight of the octablock copolymer constitutes between about 60% and about 90% of the compound by weight. The present invention also includes compositions and methods using biologically active nonionic reverse block copolymers. The reverse copolymers have an inner core of polyoxypropylene (POP) that is flanked on either end by polyoxyethylene (POE). The reverse block copolymers have the following formula: 2 wherein "b" represents a number such that the molecular weight of the hydrophobe (C.sub.3H.sub.6O).sub.b is between approximately 2,000 and 10,000, and "a" represents a number such that the percentage of hydrophile (C.sub.2H.sub.4O).sub.a is between approximately 5% and 30%.
Owner:EMANUELE R MARTIN +3

Dual functional oligonucleotides for use in repressing mutant gene expression

The present invention is based, in part, on the discovery that endogenous mRNAs can be recruited for translational repression of target mRNAs. The RNA-silencing agents and the methods described herein, thereby provide a means by which to treat genetic (e.g., genetic neurodegenerative diseases such as Huntington's Disease) or non-genetic diseases by, for example, blocking the synthesis of proteins that contribute to the diseases. Accordingly the RNA-silencing agents of the present invention have an mRNA targeting moiety, a linking moiety, and an mRNA recruiting moiety.
Owner:UNIV OF MASSACHUSETTS

Compositions and methods for enhancing discriminatory RNA interference

The present invention provides methods for enhancing discriminatory RNA silencing by RNA silencing agents. In particular, the invention provides methods for generating RNA silencing agents which can discriminate between target and non-target mRNAs that differ in sequence by only one nucleotide. Also provided are improved RNA silencing agents with enhanced discriminatory RNA silencing, e.g., single nucleotide discriminatory RNA silencing. The compositions and methods of the invention are useful in therapeutic strategies for treating genetic disorders associated with dominant, gain-of-function gene mutations.
Owner:UNIV OF MASSACHUSETTS +1

DECREASING GENE EXPRESSION IN A MAMMALIAN SUBJECT IN VIVO VIA AAV-MEDIATED RNAi EXPRESSION CASSETTE TRANSFER

Decreasing the expression of genes in a mammalian subject has multiple applications ranging from cancer therapy to anti-infective therapy or treatment of autosomal dominant genetic disorders. Yet, there is still a lack of efficient technologies to achieve that goal in mammalian subjects in vivo. The present invention relates to methods for decreasing gene expression by administering to a mammalian subject a recombinant adeno-associated viral vector in vivo with said vector comprising an RNA interference (RNAi) expression cassette whose RNA expression products directly or indirectly lead to a decrease in expression of the corresponding RNAi target gene. Upon successful transduction with the recombinant adeno-associated viral vector, the RNA expression products of the RNAi expression cassette will decrease the cellular concentration of the mRNA transcripts of the RNAi target gene, thus resulting in decreased concentration of the protein encoded by the RNAi target gene.
Owner:HILDINGER MARKUS +1

Macrocyclic ghrelin receptor modulators and methods of using the same

ActiveUS20080194672A1Reduced and dysfunctional gastrointestinal motilityInhibit gastrointestinal motilityAntibacterial agentsOrganic active ingredientsSomatotropic hormonePharmaceutical Substances
The present invention provides novel conformationally-defined macrocyclic compounds that can function as selective modulators of the ghrelin receptor (growth hormone secretagogue receptor, GHS-R1a and subtypes, isoforms and variants thereof). Methods of synthesizing the novel compounds are also described herein. These compounds are useful as agonists of the ghrelin receptor and as medicaments for treatment and prevention of a range of medical conditions including, but not limited to, metabolic and / or endocrine disorders, gastrointestinal disorders, cardiovascular disorders, obesity and obesity-associated disorders, central nervous system disorders, bone disorders, genetic disorders, hyperproliferative disorders and inflammatory disorders.
Owner:OCERA THERAPEUTICS INC

Virion Derived Protein Nanoparticles For Delivering Diagnostic Or Therapeutic Agents For The Treatment Of Dermatology Related Genetic Diseases

This invention relates to a transdermal delivery system for treating skin related genetic diseases. More specifically, the present invention provides particles and methods for using pseudo-viruses, including those derived from the herpes and papillomaviruses, to deliver drugs to keratinocytes and basal membrane cells for the treatment of skin genetic disorders including Pachyonychia Congenita and Xeroderma Pigmentosum.
Owner:AURA BIOSCI

Methods of forming circular nucleic acid probes and uses thereof

The present invention relates generally to a method of amplifying closed circular nucleic acid probes and, more particularly, to a method of amplifying closed circular nucleic acid probes by rolling circle amplification. The method of the present invention is useful in a range of applications involving the detection of nucleic acid sequences such as, but not limited to, the identification of genetic disorders, genetic variants or the presence of microbiological or viral agents.
Owner:QIAGEN GMBH

Piggybac transposon-based vectors and methods of nucleic acid integration

Disclosed herein are compositions comprising integrating enzymes that can deliver nucleic acids to a target DNA. Additionally, the methods of using the compositions disclosed herein relate to treatments for a variety of infections, conditions, and genetic disorders.
Owner:VANDERBILT UNIV

System and method for the photodynamic treatment of burns, wounds, and related skin disorders

Human and mammalian skin undergoes a variety of changes associated with chronological aging. Various environmental factors, disease states and genetic disorders may accelerate both the appearance of aging skin and also the structural and functional changes associated with aging skin. Ultraviolet radiation from the sun is one of the classic known and well-defined means of accelerating or worsening the aging of the skin and this is frequently termed photoaging. Other environmental factors, such as oxidative stress, free radicals, environmental toxins such as ozone and cultural customs or habits such as tobacco smoking are other known probe accelerators in photo aging skin. A wide variety of other factors known and unknown contribute to accelerated or premature aging of the skin. This invention discusses methods where electromagnetic radiation, in particular, light, can be used to photobiomodulate the activity of living cells to delay, diminish, retard or even reverse the structural and functional effects of aging of the skin and other living cells and tissues. In particular methods described for improving the appearance, structure, function of aging skin, including up and down regulating the genotypic markers for the phenotype of aging skin.
Owner:GENTLEWAVES

Pharmaceutical compositions comprising antisense oligonucleotides and methods of using same

The invention provides compositions and associated methods for the antisense treatment of genetic disorders, infections and various other medical conditions. In particular, embodiments of the present invention are directed to pharmaceutical compositions comprising a combination of an antisense oligonucleotide compound conjugated with a positively charged polymer (“ON-PCP”) and a negatively charged polymer. Pharmaceutical compositions in accordance with the present invention have demonstrated improved antisense efficiency and reductions in cell toxicity compared to compositions that contain an oligonucleotide compound conjugated with a positively charged polymer.
Owner:CHARLOTTE MECKLENBURG HOSPITAL AUTHORITY

Algorithms for disease diagnostics

The present invention relates to compositions and methods for molecular profiling and diagnostics for genetic disorders and cancer, including but not limited to gene expression product markers associated with cancer or genetic disorders. In particular, the present invention provides algorithms and methods of classifying cancer, for example, thyroid cancer, methods of determining molecular profiles, and methods of analyzing results to provide a diagnosis.
Owner:VERACYTE INC

Cellular arrays and methods of detecting and using genetic disorder markers

A method is disclosed for rapid molecular profiling of tissue or other cellular specimens by placing a donor specimen in an assigned location in a recipient array, providing copies of the array, and performing a different biological analysis of each copy. The results of the different biological analyses are compared to determine if there are correlations between the results of the different biological analyses at each assigned location. In some embodiments, the specimens may be tissue specimens from different tumors, which are subjected to multiple parallel molecular (including genetic and immunological) analyses. The results of the parallel analyses are then used to detect common molecular characteristics of the genetic disorder type, which can subsequently be used in the diagnosis or treatment of the disease. The biological characteristics of the tissue can be correlated with clinical or other information, to detect characteristics associated with the tissue, such as susceptibility or resistance to particular types of drug treatment. Other examples of suitable tissues which can be placed in the matrix include tissue from transgenic or model organisms, or cellular suspensions (such as cytological preparations or specimens of liquid malignancies or cell lines).
Owner:UNITED STATES OF AMERICA

Macrocyclic Ghrelin Receptor Antagonists and Inverse Agonists and Methods of Using the Same

InactiveUS20110105389A1Nervous disorderAntipyreticGrowth hormone-releasing peptideReceptor antagonist
The present invention provides novel conformationally-defined macrocyclic compounds that have been demonstrated to be selective modulators of the ghrelin receptor (GRLN, growth hormone secretagogue receptor, GHS-R1a and subtypes, isoforms and / or variants thereof). Methods of synthesizing the novel compounds are also described herein. These compounds are useful as antagonists or inverse agonists of the ghrelin receptor and as medicaments for treatment and prevention of a range of medical conditions including, but not limited to, metabolic and / or endocrine disorders, obesity and obesity-associated disorders, appetite or eating disorders, addictive disorders, cardiovascular disorders, gastrointestinal disorders, genetic disorders, hyperproliferative disorders, central nervous system disorders and inflammatory disorders.
Owner:OCERA THERAPEUTICS INC

Algorithms for disease diagnostics

The present invention relates to compositions and methods for molecular profiling and diagnostics for genetic disorders and cancer, including but not limited to gene expression product markers associated with cancer or genetic disorders. In particular, the present invention provides algorithms and methods of classifying cancer, for example, thyroid cancer, methods of determining molecular profiles, and methods of analyzing results to provide a diagnosis.
Owner:VERACYTE INC

Methods and compositions for nucleic acid targeting

The present invention relates to methods and compositions for targeting nucleic acid sequences, more specifically double stranded nucleic acid sequences. The compositions comprise oligonucleotides in the form of padlock probes. The padlock probes have two free nucleic acid end parts which are at least partially complementary to and capable of hybridizing with two at least substantially neighboring respective regions of a target nucleic acid sequence. Furthermore, the invention relates to use of said compositions as medicaments for treating genetic disorders.
Owner:LANDEGREN ULF
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