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A GALT-null Rat Model for Studies of Classic Galactosemia
Application
Pre-clinical rodent model to study classic galactosemia disease.
Key Benefits
Identify striking differences in GALT-independent galactose metabolism among tissues and across post-natal time points.
Study the relationship between galactose metabolite levels in blood and other tissues.
Study the impact of rigorous galactose restriction...
Published: 11/20/2024
Contributor(s): Judith Fridovich-Keil
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Using Hetero-multivalent DNA-functionalized Materials to Detect Genetic Mutations
Application
Improving diagnostic accuracy using hetero-multivalent DNA-functionalized materials for disease targets containing one or more genetic mutations.
Key Benefits
Tunable oligos increase specificity and cooperative binding to the disease target of interest.
Distinguishes between cis- and trans mutations.
Identifies different strains of...
Published: 10/28/2024
Contributor(s): Brendan Deal, Khalid Salaita, Rong Ma, James Kindt
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Novel Therapeutic Target for Fragile X Syndrome and Neurodevelopmental Disorders
Application
Salvianolic acid C for treating Fragile X Syndrome (FXS).
Key Benefits
New therapeutic drug candidate for the treatment of FXS.
Preliminary data in the laboratory in organoids treated with the drug showed rescued cell phenotypes known to be associated with the disease in humans.
Potential to treat other neurodevelopmental disorders.
Market...
Published: 11/20/2024
Contributor(s): Peng Jin, Chuan He, Zhongyu Zou
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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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Cas9 Controlled Gene Activation
Application
Flexible system using Cas9 to modulate gene expression.
Key Benefits
Edits genes by cleaving DNA as well as inhibiting transcription.
No need to transfect cells with additional Cas9.
Market Summary
The CRISPR-Cas9 system is a bacterial adaptive immune system that has been appropriated for genetic engineering. The CRISPR-Cas9 system...
Published: 10/28/2024
Contributor(s): David Weiss, Hannah Ratner
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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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Compounds Show Promise in Suppressing Fragile X 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: 7/30/2024
Contributor(s): Peng Jin, Abrar Qurashi
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