Search Results - genetic+disorders

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Rufinamide derivatives as novel drugs against epilepsy syndromes caused by aberrant sodium channel behavior

Unmet NeedLennox-Gastaut Syndrome (LGS) is rare and severe form of childhood-onset epilepsy associated with various types of seizures and cognitive dysfunction that persist into adulthood; yet, to date, LGS management is challenged by the lack of reliable diagnostic tests and potentially grave side-effects of available therapeutics. Rufinamide is a...

Published: 5/9/2024 | Inventor(s): Frank Bosmans, Dimpy Kalia

Keywords(s): Antagonists/Inhibitors, CNS and Neurological Disorders, Disease Indication, Epilepsy, Genetic Disorders, Novel, Predicted Novelty, Small Molecules, Therapeutic Matter, Therapeutic Substance, Therapeutics

Category(s): Clinical and Disease Specializations, Technology Classifications > Therapeutic Modalities > Small Molecules, Clinical and Disease Specializations > Neurology, Technology Classifications > Therapeutic Modalities, Clinical and Disease Specializations > Neurology > Epilepsy, Clinical and Disease Specializations > Rare Diseases

Identification of the Most Common Gene for Bardet-Biedl Syndrome

Unmet NeedCurrently nine BBS(1-9) genes have been discovered and they account for only 40-50% of all mutations that result in BBS. This technology comprises of BBS10, a novel BBS gene whose mutational involvement in the disease makes it an attractive diagnostic and therapeutic target. Other advantages include: Diagnostic test applications in pre-natal...

Published: 5/9/2024 | Inventor(s): Helene Dollfus, Richard Lewis, Philip Beals, Jean-Louis Mandel, Corinne Stoetzel, Nicholas Katsanis, Erica Davis

Keywords(s): Bardet-Biedl Syndrome, Bardet-Biedl syndrome (BBS), Biomarker, Clinical Diagnostics, Diagnostic Biomarker, Disease Indication, Genetic Disorders, In Vitro Diagnostics, Therapeutic Matter, Therapeutics

Category(s): Clinical and Disease Specializations, Clinical and Disease Specializations > Rare Diseases, Technology Classifications > Diagnostics > Biomarkers, Technology Classifications > Diagnostics > Diagnostic Biomarkers, Technology Classifications > Diagnostics > In Vitro Diagnostics, Technology Classifications > Therapeutic Modalities > Targets, Technology Classifications > Diagnostics, Clinical and Disease Specializations > Genetic Diseases, Technology Classifications > Therapeutic Modalities, Clinical and Disease Specializations > Genetic Diseases > Bardet-Biedl Syndrome

Alternative Pathway of complement assay to diagnose atypical HUS and other disorders of complement activation

Atypical hemolytic uremic syndrome (aHUS) is a rare microangiopathic hemolytic anemia (MAHA) that often leads to renal failure, stroke and premature death(1). In most cases the disease is caused by genetic mutation in one of more than 6 genes that leads to increased activation of the alternative pathway of complement. Currently there is no good diagnostic...

Published: 5/9/2024 | Inventor(s): Robert Brodsky

Keywords(s): aHUS, Assay, Atypical Hemolytic-Uremic Syndrome, Clinical Diagnostics, Disease Indication, Genetic Disorders, In Vitro Diagnostics

Category(s): Clinical and Disease Specializations, Clinical and Disease Specializations > Cardiovascular, Clinical and Disease Specializations > Rare Diseases, Technology Classifications > Diagnostics > In Vitro Diagnostics, Technology Classifications > Research Tools > Assays, Technology Classifications > Diagnostics, Clinical and Disease Specializations > Genetic Diseases, Technology Classifications > Research Tools, Clinical and Disease Specializations > Genetic Diseases > Atypical Hemolytic-Uremic Syndrome

Activating Mutations in GNAQ Sensitive to Antibiotic; Novel Molecular Pathway and Treatment Target for Capillary Malformations and Related Syndromes

An unexpected observation while working on developing cell models for these vascular abnormalities generated the following idea: Cells with the capillary malformation/ Sturge-Weber syndrome mutation may be more sensitive to an antibiotic than normal cells. This suggests a particular cell molecular pathway may be signaling abnormally in these cells...

Published: 5/9/2024 | Inventor(s): Anne Comi, Jonathan Pevsner, Zhenhua Huang, Douglas Marchuk

Keywords(s): Biomarker, Disease Indication, Genetic Disorders, Mechanism-of-action Biomarker, Skin Disorders, Sturge-Weber Syndrome, Sturge-Weber Syndrome (SWS), Target, Therapeutic Matter, Therapeutics

Category(s): Clinical and Disease Specializations, Clinical and Disease Specializations > Dermatology > Sturge-Weber Syndrome, Clinical and Disease Specializations > Genetic Diseases, Clinical and Disease Specializations > Rare Diseases, Technology Classifications > Diagnostics > Biomarkers, Technology Classifications > Therapeutic Modalities > Targets, Clinical and Disease Specializations > Dermatology, Technology Classifications > Diagnostics, Technology Classifications > Therapeutic Modalities

Targeting liver nuclear receptors as a treatment for Wilsons disease

Wilson disease is a hepato-neurologic disorder caused by mutations in the gene ATP7B and accumulation of copper in tissues, predominantly in the liver. The disease is lethal, unless treated. Current life-long treatment involves copper chelation or copper replacement using Zn. Both procedures alleviate major symptoms but side effects are frequent and...

Published: 5/9/2024 | Inventor(s): Svetlana Lutsenko, James Hamilton

Keywords(s): Agonists/Promoters, Biomarker, Disease Indication, Genetic Disorders, Liver, Liver Transplant, Mechanism-of-action Biomarker, Non-novel, Off-the-shelf, Predicted Novelty, Single, Small Molecules, Targeted Therapy, Therapeutic Matter, Therapeutic Substance, Therapeutics, Therapy Type, Transplants, Wilson's Disease

Category(s): Clinical and Disease Specializations, Clinical and Disease Specializations > Genetic Diseases > Wilson's Disease, Clinical and Disease Specializations > Rare Diseases, Clinical and Disease Specializations > Transplantation > Liver Transplant, Technology Classifications > Diagnostics > Biomarkers, Technology Classifications > Therapeutic Modalities > Small Molecules, Technology Classifications > Therapeutic Modalities > Targets, Technology Classifications > Diagnostics, Clinical and Disease Specializations > Genetic Diseases, Technology Classifications > Therapeutic Modalities, Clinical and Disease Specializations > Transplantation

Recombinant Nanobodies and Derivatives to Study Structure and Function of Wilson Disease Protein (Copper Transporter ATP7B) in vitro and in Cells

UNMET NEEDAn emerging concern in the field of cancer pathology is the reliability and reproducibility of immunohistochemical (IHC), in situ hybridization (ISH), and fluorescence in situ hybridization (FISH) methods to evaluate gene expression and genome alterations in tissues specimens. A tool that could be used to standardize the parameters of IHC...

Published: 5/9/2024 | Inventor(s): Svetlana Lutsenko, Yiping Huang, Serge Muyldermans, Oleg Dmitriev

Keywords(s): Antibodies, Assay, Clinical Diagnostics, Discovery/Research Tools, Disease Indication, Genetic Disorders, In Vitro Diagnostics, Research Reagent, Wilson's Disease

Category(s): Clinical and Disease Specializations, Clinical and Disease Specializations > Genetic Diseases > Wilson's Disease, Clinical and Disease Specializations > Rare Diseases, Technology Classifications > Diagnostics > In Vitro Diagnostics, Technology Classifications > Research Tools > Antibodies, Technology Classifications > Research Tools > Assays, Technology Classifications > Diagnostics, Clinical and Disease Specializations > Genetic Diseases, Technology Classifications > Research Tools

Monoclonal Antibodies Against the Barth Syndrome Gene Product, TAZ1, for Research and Diagnostic Applications

TITLEMonoclonal Antibodies Against the Barth Syndrome Gene Product, TAZ1, for Research and Diagnostic ApplicationsCASE NUMBERC12086Unmet Need: Barth syndrome (BTHS) is an X-linked disease characterized by cardiac and skeletal myopathies, delayed growth until puberty, and cyclic neutropenia; if undiagnosed, affected boys have only a 30% chance of survival...

Published: 5/9/2024 | Inventor(s): Steven Claypool

Keywords(s): Antibodies, Barth Syndrome, Barth Syndrome (BTHS), Barth syndrome (BTHS), Discovery/Research Tools, Disease Indication, Genetic Disorders, Monoclonal Antibodies, Research Reagent, Translational Research Biomarker

Category(s): Clinical and Disease Specializations, Clinical and Disease Specializations > Genetic Diseases > Barth Syndrome, Clinical and Disease Specializations > Rare Diseases, Technology Classifications > Research Tools > Antibodies, Clinical and Disease Specializations > Genetic Diseases, Technology Classifications > Research Tools

C09948: A Mouse Model of Hemophilia A

Overview: These knock-out mice are deficient of endogenous Factor VIII making them useful for hemophilia A studies. The mice are available via The Jackson Laboratory Strain: 004424; B6;129S4-F8tm1Kaz/JTechnical DetailsMice that are homozygous for the targeted, X chromosome-linked mutant allele are viable and fertile. Homozygous females and carrier males...

Published: 5/9/2024 | Inventor(s): Haig Kazazian, John Gearhart, Ann Lawler, Lilia Bi

Keywords(s): Basic Research Biomarker, Discovery/Research Tools, Disease Indication, Genetic Disorders, Hemophilia, In Vivo Research Tool, Knock Out Mouse Model, Mouse Model

Category(s): Clinical and Disease Specializations, Clinical and Disease Specializations > Genetic Diseases > Hemophilia, Clinical and Disease Specializations > Hematology, Clinical and Disease Specializations > Rare Diseases, Technology Classifications > Research Tools > Animal Models, Clinical and Disease Specializations > Genetic Diseases, Technology Classifications > Research Tools

CF8Flp: A Cystic Fibrosis Bronchial Epithelial Cell Line with a Single Integration Site for the Stable Expression of any Gene of Interest

A Cystic Fibrosis Bronchial Epithelial Cell Line (CF8Flp)JHU REF: C12966Invention Novelty: The invention is in the form of a Cystic Fibrosis Bronchial Epithelial Cell Line with an integration site that allows for stable expression of the target protein.Value Proposition:Bronchial epithelial cells have been particularly instrumental in providing a means...

Published: 5/9/2024 | Inventor(s): Garry Cutting

Keywords(s): Basic Research Biomarker, Cell Model, Cloning Reagents, Cystic Fibrosis (CF), Discovery/Research Tools, Disease Indication, Epithelial Cells, Genetic Disorders, In Vitro Research Tool, Plasmid, Research Reagent

Category(s): Technology Classifications > Research Tools > Cell Lines, Technology Classifications > Research Tools > Vectors & Plasmids, Technology Classifications > Research Tools, Clinical and Disease Specializations > Genetic Diseases > Cystic Fibrosis

Aptamer Based Sickle Cell Anemia Therapeutic

INVENTION NOVELTY: This technology is a set of RNA aptamers capable of reducing sickle hemoglobin (HbS) polymerization, which has therapeutic potential in reducing vaso-occlusion and ischemia in sickle cell disease patients. VALUE PROPOSITION: Sickle cell anemia is a genetically inherited disease affecting 1 in 400 African American and up to 2% of the...

Published: 5/9/2024 | Inventor(s): James Casella, Shirley Purvis, Emily Barron-Casella, Yolanda Fortenberry, Jeffrey Keefer

Keywords(s): Biologics, Disease Indication, Genetic Disorders, Nucleic Acid, Sickle Cell Anemia, Therapeutic Matter, Therapeutic Substance, Therapeutics

Category(s): Clinical and Disease Specializations, Clinical and Disease Specializations > Genetic Diseases > Sickle Cell Anemia, Clinical and Disease Specializations > Hematology, Clinical and Disease Specializations > Rare Diseases, Technology Classifications > Research Tools > Nucleic Acids, Technology Classifications > Therapeutic Modalities > Small Molecules, Clinical and Disease Specializations > Genetic Diseases, Technology Classifications > Research Tools, Technology Classifications > Therapeutic Modalities

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