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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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3q29 Deletion Mice
Application
Mouse models with the deletion of 3q29 for the study of neurological disorders such as schizophrenia, autism, and anxiety disorders.
Technical Summary
Copy Number Variants (CNV’s) are large genomic deletion or duplications. One of the CNV’s, the 3q29 deletion, confers more than 40 fold increase in risk of schizophrenia. Most...
Published: 9/26/2024
Contributor(s): Tamara Caspary, David Weinshenker, Stephen Theodore Warren
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Human Induced Pluripotent Stem Cells
ApplicationHuman induced pluripotent stem cells useful for human stem cell biology, Lesch-Nyhan disease or DYT1 dystonia.Technical SummaryLesch-Nyhan syndrome (juvenile gout) is a rare, inherited disorder caused by deficiency in hypoxanthine-guanine phosphoribosyltransferase (HGPRT). The disease causes overproduction of uric acid often leading to gout...
Published: 9/26/2024
Contributor(s): Hyder Jinnah
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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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