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 has created 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.
Based on high impact needs identified by a recent independent scientific analysis and caregiver input, we have prioritized the following areas in SAS research:
- speech and language
- behavior
- sleep
- global developmental delays
Additional research priorities include projects on SATB2 function and expression, variations in clinical phenotypes, and symptomatic and/or curative therapeutic interventions.
SAS Stem Cell Biobank
CURRENT RESEARCH
RESEARCH AWARDS
IPSCS BANK
The SATB2 Gene Foundation requires all applicants for the iPSC (Induced Pluripotent Stem Cells) bank to complete the application and agreement, along with the iPSCs Bank Material Transfer Agreement, in order to access and use the iPSC Bank biological materials. Only SGF approved applicants may have access to the materials. These materials are for research purposes only and are not transferable to any non-approved third party.
Step 1: Complete the application and material transfer agreement (MTA). In addition to the application and MTA, submit the following supporting materials:
a. Lay Statement for the SATB2 Gene Foundation. In a brief paragraph of approximately 10 lines, describe your proposal and it’s significance.
b. Provide a short scientific description of the research you will conduct using these Materials and time frame for proposed completion. An abstract from a research grant is acceptable.
Step 2: Return the completed application, MTA, and supporting materials to the SATB2 Gene Foundation to research@satb2gene.org. Once approved by the SATB2 Gene Foundation Board of Directors, you will receive an email confirming your order.
Step 3: Shipping confirmation. Dr. Jennifer Fish’s laboratory is currently distributing iPSCs. Her laboratory will email you when the sample has shipped, with shipping and tracking information.
Step 4: Shipping charges. Shipment will be charged to the applicant-provided shipping carrier account.
Details of available iPSCs (Currently, there are 4 cell lines with one parental control each, which represent the most common molecular mechanisms of disease).
iPSC Line ID | Alteration | Originating Cell Type | |
ID2 | Intragenic deletion | fibroblast | |
MID2 | fibroblast | ||
ID59 | Nonsense: p.R459X | fibroblast | |
MID59 | fibroblast | ||
ID100 | Missense: p.R389C | fibroblast | |
MID100 | |||
SATB22207 | Truncating frameshift
c.163delG p.V55WfsX4 |
PBMCs | |
SATB8383 Control | PBMCs |
2023 RESEARCH GRANT APPLICATION
The SATB2 Gene Foundation is pleased to announce our Research Grant Program. This grant program is open to research investigators affiliated with an academic institution, hospital system, non-profit institution, or other accredited research institutions based in the United States or internationally. Eligible applicants include post-doctoral fellows, clinical fellows, researchers, physicians, or other associated research professionals with faculty appointments or research positions.
To drive research momentum, the SATB2 Gene Foundation Board is highly interested in research proposals that would create pilot data sufficient to support larger scale grant submissions to other funding sources.
The SATB2 Gene Foundation prioritizes the following areas in SAS research, based on high impact needs identified by a recent independent scientific analysis and caregiver input:
- Speech and Language
- Behavior
- Sleep
- Global Development Delays
Additional research priorities include projects on SATB2 function and expression, variations in clinical phenotypes, and symptomatic and/or curative therapeutic interventions. We support projects that gather foundational knowledge about SATB2 function, and we also support projects that aim for tangible and immediate clinical applicability.
In addition, the SATB2 Gene Foundation has previously supported other research resources, such as iPSCs for a variety of precise SATB2 mutations. Please reach out if access to these resources may be helpful to your research.
Schedule for Grant Applications:
Applications will be reviewed by the SATB2 Gene Foundation Medical and Scientific Advisory Board and the Board of Directors. The grant selection process is unbiased and independent; awards are based solely on scientific merit and expected contributions to the priorities of the SAS community and body of knowledge about SATB2-associated syndrome. Advisors and board members with a conflict of interest will not participate in voting for those specific applications.
If you have any questions regarding the application process, please contact research@satb2gene.org.
Get Started:
HOW YOU CAN HELP
The SATB2 Gene Foundation needs your help in raising the necessary funds to continue to rapidly advance research.
Join us in making an impact on the future of SAS research. Help us continue to fund innovative SATB2 research, including biobank expansion, experiments on biobanks samples, animal models, and clinical research with the SATB2 registry! Help us accelerate the pathway towards much-needed treatments for our SATB2 patients to improve their quality of life.
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: