Search Results - clinical+and+disease+specializations+%3e+genetic+diseases

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

Value Proposition: · Antibiotic treatment strategy for capillary malformations and Sturge-Weber Syndrome. · Selectively targets endothelial cells with the pathogenic GNAQ mutations using puromycin · Inhibits cell proliferation and reduces cell survival via activation of TRP6/NFAT signaling pathway · Compatible with various drug...

Published: 3/13/2025 | 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 > 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, Clinical and Disease Specializations > Dermatology > Sturge-Weber Syndrome

A Linkage-disequilibrium-based Method to Distinguish Aneuploidies of Meiotic and Mitotic Origin from Low-coverage Preimplantation Genetic Testing Data

Unmet NeedChromosomal aberrations like aneuploidies affect one in 150 pregnancies worldwide and are responsible for half of early pregnancy terminations (1). Preimplantation genetic testing (PGT-A) can screen for embryos with de novo aneuploidies such as subchromosomal deletions/additions (2). PGT-A can only be performed on embryos generated via in...

Published: 3/14/2025 | Inventor(s): Rajiv McCoy, Daniel Ariad, Manuel Viotti

Keywords(s):

Category(s): Clinical and Disease Specializations > Genetic Diseases

Col3a1G209S heterozygous mice

Unmet Need:Vascular Ehlers-Danlos syndrome (vEDS) is a rare genetic connective tissue disorder. Patients with vEDS present with thin, translucent skin, easy bruising, and a characteristic facial appearance. Most critically, they are at risk for spontaneous rupture of the major arteries, hollow organs, and gravid uterus. Preclinical investigation of...

Published: 3/14/2025 | Inventor(s): Harry Dietz, Caitlin Bowen, Juan Calderon Giadrosic, Mark Helmers

Keywords(s):

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

Col3a1G938D heterozygous mice

Published: 3/14/2025 | Inventor(s): Harry Dietz, Caitlin Bowen

Keywords(s):

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

Loeys-Dietz Syndrome (LDS) Mouse Strains (Tgfbr2G357W/+ and Tgfbr1M318R/+)

Unmet Need:Loeys-Dietz Syndrome (LDS) is a rare genetic connective tissue disorder that is characterized by a high risk for aneurysm and dissection throughout the arterial tree and phenotypically resembles Marfan Syndrome. Marfan Syndrome and related disorders, such as LDS, have an incidence of 1 in 3000 to 5000 individuals (see UpToDate). LDS is specifically...

Published: 3/14/2025 | Inventor(s): Harry Dietz, Elena MacFarlane, David Loch

Keywords(s):

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

OpenCRAVAT, An Open Source Collaborative Platform for the Annotation of Human Genetic Variation

Unmet NeedGene variants are complex to interpret, involving different published methods, databases, algorithms for ranking genes and different prediction tools. Decision support frameworks were created to integrate these various resources into one environment. However, current frameworks are limited by a closed proprietary architecture, limiting its...

Published: 3/14/2025 | Inventor(s): Rachel Karchin, Kymberleigh Pagel, Michael Ryan, Rick Kim, Kyle Moad

Keywords(s): Computer and Network Systems, Computer Software, Database Management Software

Category(s): Technology Classifications > Computers, Electronics & Software > Databases, Technology Classifications > Computers, Electronics & Software > Algorithms, Clinical and Disease Specializations > Genetic Diseases, Clinical and Disease Specializations > Oncology

Engineered Extracellular Vehicles as a selective drug delivery platform

Value Proposition:· Engineered extracellular vesicles with enhanced uptake and reduced immunogenicity · Improved EV-based drug delivery platform Technology DescriptionResearchers at Johns Hopkins have identified endogenous proteins that can be engineered to assist in extracellular vesicle and/or nanoparticle therapeutics through increased...

Published: 3/14/2025 | Inventor(s): Kenneth Witwer, Zach Troyer

Keywords(s):

Category(s): Clinical and Disease Specializations > Immuno-Oncology, Clinical and Disease Specializations > Infectious Diseases, Clinical and Disease Specializations > Oncology, Clinical and Disease Specializations > Respiratory Diseases, Clinical and Disease Specializations > Rare Diseases, Clinical and Disease Specializations > Genetic Diseases, Technology Classifications > Therapeutic Modalities, Technology Classifications > Diagnostics

A novel device to facilitate performing Descemet's Membrane Endothelial Keratoplasty (DMEK)

Unmet NeedOver 3 million U.S. patients suffer from severe eye pain and possible blindness due to corneal dystrophies, which can only be cured by corneal transplants. Corneal transplantation can be performed through surgical procedures known as Descemet’s Stripping Automated Endothelial Keratoplasty (DSAEK) and Descemet’s Membrane Endothelial Keratoplasty...

Published: 3/13/2025 | Inventor(s): Eric Chiang, Kali Barnes, Conan Chen, Anshul Subramanya, Stephanie Cai, Allen Eghrari

Keywords(s): Carriers/Appliers, Corneal Dystrophy, Disease Indication, Eye Disorders, Interventional and Surgical Systems, Surgical Instruments

Category(s): Clinical and Disease Specializations, Clinical and Disease Specializations > Genetic Diseases, Clinical and Disease Specializations > Rare Diseases, Technology Classifications > Medical Devices > Surgical, Technology Classifications > Medical Devices, Clinical and Disease Specializations > Ophthalmology, Clinical and Disease Specializations > Ophthalmology > Corneal Dystrophy

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: 3/13/2025 | 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: 3/13/2025 | 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

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