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

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Targeted T-VEC immunotherapy for cutaneous neurofibromas

Value Proposition· Tumor-selective oncolysis: T‑VEC is an engineered oncolytic HSV‑1 that preferentially replicates in and lyses tumor cells, providing direct cytolytic reduction of cutaneous neurofibromas in preclinical models· Local, anti-tumor immune activation: preclinical evidence that tumor cell lysis and local GM-CSF expression promotes...

Published: 4/24/2026 | Inventor(s): Renyuan Bai, Verena Staedtke, Jaishri Blakeley, Carlos Romo

Keywords(s):

Category(s): Clinical and Disease Specializations > Genetic Diseases, Clinical and Disease Specializations > Oncology, Technology Classifications > Therapeutic Modalities > Repurposed Drugs, Technology Classifications > Therapeutic Modalities > Biologics, Technology Classifications > Therapeutic Modalities > Immunotherapies, Clinical and Disease Specializations > Immuno-Oncology

GsMTx-4 as a Treatment for Schwannomatosis-Induced Pain

Value Proposition:· First Non-Surgical Therapy for Schwannomatosis Pain: Introduces the first targeted, injectable, mechanism-based treatment for schwannoma-associated pain, replacing the current reliance on tumor resection for pain control.· Mechanosensitive Ion Channel (MSC) Inhibition: GsMTx-4 uniquely blocks mechanosensitive ion channels...

Published: 4/24/2026 | Inventor(s): Kimberly Ostrow

Keywords(s):

Category(s): Clinical and Disease Specializations > Neurology > Neuropathy, Clinical and Disease Specializations > Genetic Diseases, Clinical and Disease Specializations > Neurology, Clinical and Disease Specializations > Pain > Chronic Neuropathic Pain, Clinical and Disease Specializations > Neurology > Hyperalgesia, Technology Classifications > Therapeutic Modalities > Peptides

Antibiotic Treatment Strategy for Capillary Malformations and Sturge-Weber Syndrome

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: 4/23/2026 | 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: 4/24/2026 | 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: 4/24/2026 | 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: 4/24/2026 | 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: 4/24/2026 | 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

High Affinity Nanobodies Specific for Voltage Gated Sodium Channels

Unmet Need Globally, millions of patients are affected by diseases caused when mutations affect the normal function of voltage gated sodium channels (Nav). These mutations have been implicated in several human genetic diseases such as hypokalemic periodic paralysis, myotonia and Brugada syndrome. Myotopic Dystrophy alone affects at least 1 in 8,000...

Published: 4/24/2026 | Inventor(s): Sandra Gabelli, L. Mario Amzel, Lakshmi Srinivasan, Vanina Alzogaray, Manu Ben-Johny

Keywords(s):

Category(s): Technology Classifications > Therapeutic Modalities > Antibodies, Clinical and Disease Specializations > Genetic Diseases

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: 4/24/2026 | 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

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: 4/24/2026 | 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

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