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Antisense Oligonucleotides Therapeutics Targeting Specific Tissues or Cells
­ Application Antisense oligonucleotide (ASO) therapies for the treatment of rare diseases and cancer. Key Benefits Novel approach to ASO therapeutics that potentially improve tissue/cell targeting capabilities. Increases the efficacy of ASOs while decrease off-target toxicity. Potential to treat a variety of genetic diseases such as cancer,...
Published: 7/29/2022       Contributor(s): Jiahui Zhang, Khalid Salaita, Hanjoong Jo
Predicting Treatment Response in Patients with Spinal Muscular Atrophy (SMA)
Application Prognostic model predicts treatment response to nusinersen (Spinraza®) in patients with spinal muscular atrophy. Key Benefits A prediction model using baseline CHOP-INTEND, IL-8, fractalkine, and MCP-1 accurately predicts CHOP-INTEND outcomes in children treated with nusinersen The model can also be incorporated into future therapeutic...
Published: 7/13/2021       Contributor(s): William Hu, Sumit Verma
3D Model for Analysis and Treatment Planning of Vascular Disease
Application A patient-specific, 3D model of pulmonary atresia for surgical planning. Key Benefits Patient-specific model. Allows for accurate surgical planning. Enables new anastomosis procedure. Market Summary Pulmonary atresia (PA), ventricular septal defect (VSD) with major aortopulmonary collateral arteries (MAPCAs) is a rare congenital...
Published: 12/8/2020       Contributor(s): Vahid Serpooshan, Holly Bauser-Heaton, Martin Tomov
CFTR Modulators for Treating Rare Forms of Cystic Fibrosis
Application Small molecules to treat cystic fibrosis and other pulmonary diseases. Key Benefits Rescue rare variants of CFTR gene. Serve as PDE4 inhibitors with strong anti-inflammatory effects. Market Summary Cystic fibrosis (CF) is a progressive, genetic disorder that arises from mutations in the cystic fibrosis transmembrane conductance...
Published: 11/2/2020       Contributor(s): Eric Sorscher, Jeong Hong, Haian Fu, Yuhong Du, Huw Davies, Andras Rab, Candela Manfredi, Xun Yang, Zhi Ren
Combination Therapy for Increasing Venetoclax Sensitivity in Multiple Myeloma
Application Marker and co-therapy that inhibits succinate dehydrogenase to increase patient response to venetoclax. Key Benefits Co-therapy increases MM sensitivity to venetoclax treatment. Identifies patients who will respond to venetoclax therapy. Market Summary Multiple Myeloma (MM) is a cancer of plasma cells responsible for making antibody...
Published: 6/18/2019       Contributor(s): Malathy (mala) Shanmugam, Richa Bajpai
Assay for Non-Nucleoside Inhibitors of the Measles and Nipah Viruses
Application A cell-based assay to screen for inhibitors of the measles virus (MV). Highly active compounds have been identified and analogs have been synthesized and evaluated. Key Benefits Potent (sub-nM range), non-peptidic, non-nucleosidic compounds. Robust, cell-based, high-throughput screening assay. Technical Summary Vaccination serves...
Published: 10/18/2016       Contributor(s): Richard Plemper, James Snyder, Aiming Sun
Combination Drug Treatment for Neoplasms Associated with Tuberous Sclerosis
Application Combination of rapamycin and imatinib for the treatment of neoplasms associated with tuberous sclerosis (TS). Key Benefits Combined therapy shows 97% decrease in tumor volume in mouse model of TS compared to vehicle treatment. Dual therapy blocks two major signaling pathways implicated in TS. Market Summary Tuberous sclerosis (TS)...
Published: 9/18/2012       Contributor(s): Jack Arbiser
Drosophila Model of Galactosemia
Application Whole animal genetic model for Galactosemia. Fly model can be used to test efficacy of novel therapeutic interventions. Genetic system enables screening for suppressors and/or genetic modifiers of Galactosemia. Key Benefits First whole-animal genetic model to study GALT and GALE function. Only model that mimics acute...
Published: 4/14/2011       Contributor(s): Kenneth (Ken) Moberg, Judith Fridovich-Keil, Rebecca Sanders, Jennifer Daenzer, Rebekah Kushner, Emily Ryan, Kerry Garza
Compounds for Suppressing Fragile X Premutation rCGG Repreat-Mediated Toxicity
Application Compounds for the treatment of Fragile X-associated tremor/ataxia syndrome. Key Benefits 11 known, FDA approved drugs identified that reduced rCGG-mediated lethality to a certain degree. 3 of these drugs also rescued locomotion deficits. Technical Summary Fragile X syndrome (FXS) is the most common inheritable form of cognitive...
Published: 2/24/2011       Contributor(s): Peng Jin, Abrar Qurashi
Food Lists for Nutritional Management of Metabolic Disorders
Applications Booklets which provide a reference guide for nutritional management of rare genetic diseases. Technical Summary A majority of inherited metabolic disorders affect children and adults worldwide. Many metabolic disorders require special dietary therapy and monitoring by a team of physicians, nurses, genetic counsellors, social workers,...
Published: 4/29/2009       Contributor(s): Rani Singh