We are dividing and conquering in order to better understand this disorder and hope this work will ultimately lead to a cure. Learn about the work that is being conducted in each area.
Patient Registry/Biorepository – Strength comes in numbers! In order to continue to attract grant funding and interest in the rare disease community, we need to show that we are organized and that we have significant numbers behind us. Additionally, the information we learn from these efforts could have a more immediate impact to our families. We will be able to better answer questions such as: which drugs are the best for STXBP1? What is the evolution of this disorder? Additionally, as new drugs are developed for similar disorders it is easier to conduct trials quickly and efficiently within our database. The added benefits of a bio-repository is that we are able to collect samples from our families quickly so that we can answer key questions quickly and we will provide our investigators better quality information. Click here to Learn More!
Structural Biology & Protein Biochemistry – This work is focused on understanding the molecular basis of how the proteins interact. Here we provide valuable insight into potential therapeutic targets. How the proteins work and interact is often the frame-work over which we can build the rest of our understanding of a disease state. This amazing lab contributed to a Nobel-Prize winning team! Learn More about this work and about Dr Rizo-Rey.
Cell Biology – After understanding the basic functioning of the proteins the next step is to think about how the proteins interact within the cell. Potential compounds and gene transfection is often tried in cells first in order to determine how a potential therapeutic may function. There are various laboratories that have expressed STXBP1 in cell culture and have done some beautiful experiments understanding the function of STXBP1 in neurons. High-throughput assays are often used to screen various compounds and this can be used to screen very large amounts of compounds. We are currently exploring laboratories with which to partner. Please check back for more details.
Animal models – Once we have an understanding of the function of the cellular interactions, researchers find that it is helpful to understand the disease in various organisms. Currently, STXBP1 has been cloned in various organisms including but not limited to; fruit flies, zebrafish and mice. Our parents have been partnering with Dr. Mingshan Xue and his colleagues who are using animal models to study Ohtahara syndrome. They aim to understand how these genetic mutations (including STXBP1) cause Ohtahara syndrome and identify new directions for therapeutic interventions to improve the quality of life for children affected by this condition. Click hyperlinks to learn more as well as to donate. Learn more about this work and how you may donate.
Zebrafish – This fish can be studied in it’s larval stage due to its transparent characteristics and its small size. The latter makes it easy to test in high-throughput assays to assess hundreds of compounds. We are pleased to share that there are currently several laboratories showing that our STXBP1 model does not move making this a “testable” characteristic. In other words, potential therapies could restore movements in the fish and this could be applied to humans. This model is often used for drug repurposing studies where drugs used for one disease can be studied specifically for another disease in order to find targeting treatments from known drugs that may have never been considered for STXBP1. We are currently sourcing grant funding in order to begin such studies, stay tuned!
Gene Therapy – Currently our team does not feel that STXBP1 is a protein that is easily amendable to gene therapy at this time. This may change in the future as more becomes known about the protein and advances are made with gene therapy vector technologies. Over production of STXBP1 in some organisms produces a deadly result. Consequently, we want to be cautious in this area until more is known.