Research priorities

Families of individuals with SATB2-associated syndrome (SAS) recognize the importance of research to better understand SAS and identify possible treatments.

The SATB2 Gene Foundation is creating a powerful research asset by developing induced pluripotent stem cells (iPSCs) from patient cells. iPSCs provide cellular models of disease to rapidly advance knowledge and discovery.

SAS stem cell biobank:

Steam cell creation

The advantage of a Foundation-sponsored stem cell biobank is that the cell lines will not be held as proprietary by any single laboratory, and we can therefore share iPSCs with qualified researchers around the world in order to continue to advance SAS research. These cells will allow researchers to advance our understanding of human-specific disease phenotypes (patient characteristics) and test potential treatments. We already have samples from three individuals with SAS and three corresponding parents that serve as controls with different types of gene alterations (missense mutation, nonsense mutation, and deletion. The samples were collected under a research project led by two members of our Medical and Scientific Advisory Board, Dr. Yuri Zarate, MD of Arkansas Children’s Hospital and Dr. Jennifer Fish, PhD of UMass Lowell.

Stem cell differentiation

Once funds are raised to generate iPSCs from the samples we have already collected, we can begin the generation process on the cells. We will partner with an experienced iPSC lab affiliated with a recognized academic institution to generate and validate the iPSCs. That process takes approximately 4 to 6 months. Subsequently, these iPSCs can be expanded and stored so that we can have samples to share with researchers globally.

Experiments with iPSCs typically involve differentiating the stem cells into specific cell types including specific neuronal subtypes (brain cells). These cells allow researchers to study disease mechanisms, for example, how different alterations of the SATB2 gene change neurons derived from iPSCs, and study the effect of the drugs on different cell types, such as neurons derived from iPSCs. This is a necessary first step towards evaluating potential treatments.

How YOU can help

The SATB2 Gene Foundation needs your help in raising the necessary funds to support this project and other research.

Join us in making an impact on the future of SAS research. The Board of Directors is pleased to announce that we are dedicating $10,000 towards the funding of this project.  Our remaining need is a minimum of $55,000 in order to generate these six cell lines (three SAS individuals with three parents). 

Please donate today to support research, on the online giving link please select “SAS Research” on the drop down menu. For additional information, please contact Allison Kaczenski.

Checks with a note of “Research” can mailed to the below address;

SATB2 Gene Foundation 3050 Five Forks Trickum Road Suite D-524 Lilburn, GA 30047 USA

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