RESEARCH
The registry is an important tool to help researchers gain a better understanding of SZT2 and ultimately develop more effective treatment options. If you or your child has been diagnosed with SZT2, your participation could help advance the knowledge of SZT2!
In creating and maintaining a meaningful registry of patients with SZT2, our shared goals are to better understand the full range of clinical features that are associated with SZT2, and to provide a resource of natural history data. As the promise of gene-specific medication is now on the horizon for epilepsy, it is critical that the SZT2 phenotype be well defined so that there can be clear goals and outcomes to measure in any future clinical trial.
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Enroll in the Registry
Participation in the registry is easy. All we will ask of you is to answer some questions about your/your child’s medical history, and to provide us with a copy of your/your child’s medical record.
Eurac Research
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Eurac Research is an Institute for Biomedicine located in Italy, which synergies data science and translational biology for precision health research.
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With cutting-edge, globally acclaimed, research and development center that uses unique resources to drive advances in biomedical research their mission is to to help develop innovative precision health solutions mainly in the neurological diseases fields.
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Currently, Eurac is working on an SZT2 research that involves:
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Reprogramming of affected family-derived cells models (hiPSC) and characterization
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Differentiation of patient’s hiPSC into neurons and characterization for better understanding the biology behind the affected cells compared to none affected ones.
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Analysis of mutations effect on SZT2 transcript and mTORC1 pathway
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Ultimate goal is to screen and identify potential interventions either by using drugs or novel therapeutic strategies based on the research findings
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Our organization is excited to be working with this institute and on providing funding this research.
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Please help us spread awareness and raise the funding necessary by the donating.
