Feb. 28, 2023

On this Rare Disease Day, we want to highlight and honor our long-term collaboration with the TSC Alliance® in support of critical research for tuberous sclerosis complex (TSC).  Together, we have focused our efforts on characterizing mouse models of TSC and offering a robust and reproducible protocols and assays for the preclinical screening of novel therapies as part of the TSC Preclinical Consortium.  The TSC Alliance fuels collaborative research through the Preclinical Consortium making preclinical testing resources available to academic and pharmaceutical industry researchers to de-risk drug development in TSC and move new treatments to clinical trials faster.

TSC causes tumors to grow in different organs and can impair their function, primarily the brain, heart, kidneys, skin, eyes and lungs. Changes in the brain caused by TSC have the biggest impact on quality of life, from seizures and developmental delays to intellectual disabilities, behavioral challenges, and autism.

Here are a few highlights from our collaboration with the TSC Alliance:

A) Tsc1GFAPCKO mice develop stereotypical electrographic seizures identified by EEG at around 1 month of age and become progressively more frequent. PD0325901 (MEKi) and the tool compound Rapamycin show efficacy for preventing seizures. B) Rapamycin effects on prolonging survival in Tsc1GFAPCKO mice. Data for both panel A and B are cumulative across numerous studies.  C) Tsc1flox/floxL7Cre mice develop both a significant loss of Purkinje cells and significant astrogliosis in the cerebellum. D) Attenuation of spontaneous cystic renal pathology in Tsc2+/- AJ mice with 3-week rapamycin treatment. In addition to the Tsc1GFAPCKO and Tsc2+/-AJ mouse models, we are currently working to establish a Tsc1flox/floxL7Cre model to examine autistic-like phenotypes.  All data presented were generated with the TSC Alliance.

Contact PsychoGenics for more information about our rare disease models.

To learn more about the TSC Alliance, please visit www.tscalliance.org

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