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Whole-Animal Genetic Model to Mimic Aspects of the Patient Phenotype of Classic Galactosemia
Application
An animal model for studying the underlying causes of galactosemia and screening for novel drugs to treat the condition.
Key Benefits
The first animal model for elucidating the underlying causes of galactosemia in infants.
Animals with galactosemia causing genetic knockout exhibit similar disease phenotypes and complications...
Published: 7/30/2024
Contributor(s): Judith Fridovich-Keil
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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: 12/4/2024
Contributor(s): Vahid Serpooshan, Holly Bauser-Heaton, Martin Tomov
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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: 7/30/2024
Contributor(s): Jack Arbiser
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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: 11/20/2024
Contributor(s): Rani Singh
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