New Study Aims to Improve Outcomes for Tuberous Sclerosis Complex Patients

Tuberous sclerosis complex (TSC) is a rare disease that, like many other rare diseases, is not yet fully understood by medical professionals. Because of this, it is very difficult to create therapies that can adequately treat TSC. Recombinetics Inc. aims to change this lack of knowledge by launching a study to create a large animal model of the human disease.

About Tuberous Sclerosis Complex

TSC is a rare, genetic disease that is characterized by benign tumors that grow throughout the body. The major symptom is these growths, which most commonly form in the kidneys, lungs, skin, heart, and brain. Other symptoms include seizures, skin abnormalities, behavioral issues, developmental delay, heart and lung problems, issues with communication and social interaction, kidney problems, and eye abnormalities. All of these are the result of a mutation in the TSC1 or TSC2 gene, both of which are tumor suppressor genes. When they are altered, they no longer do their job to stop cells from growing and multiplying out of control. There are currently no therapies specific to TSC; treatment is symptomatic.

About the Study

Using swine models, Recombinetics aims to create an animal model with the human version of tuberous sclerosis complex. With this model medical professionals will be able to better study the disease itself, along with curate safe and effective treatments.

They will also partner with Brigham and Women’s Hospital in Boston to ensure that these animal models are reproducible, reliable, and viable for pre-clinical studies. Both organizations are very excited by these developments, and they are hopeful that they will lead to viable treatment options for patients with TSC.

Find the source article here.

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