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Test Tubes

I geni sono gli elementi costitutivi della vita. Sono proprio come le ricette ma invece di fare una torta, i geni codificano per proteine che hanno funzioni importanti nel corpo. FOXP1 è un gene specifico trovato sul cromosoma 3 che istruisce la produzione della proteina Forkhead Box P1. Quando il gene subisce un cambiamento o una mutazione, non funziona correttamente e la “ricetta” per preparare la torta viene modificata, con la possibilità di una serie di problemi medici e di sviluppo.

Il sequenziamento dell’intero esoma è un singolo test in grado di identificare cambiamenti o mutazioni nell’intero corredo genetico di una persona. Il panel test è in grado di identificare cambiamenti o mutazioni in un sottoinsieme di geni associati a una particolare caratteristica clinica (ad esempio, pannello sull'autismo, pannello sulla disabilità intellettiva, pannello sull'epilessia). Le mutazioni vengono spesso rilevate nei panel test dello sviluppo neurologico o nel sequenziamento dell'intero esoma. Negli ultimi anni sia i pannelli che il sequenziamento dell’intero esoma sono diventati più accessibili e pertanto i bambini con sintomi di sviluppo e/o medici vengono diagnosticati in età più giovane.

Nella stragrande maggioranza dei casi FOXP1, la mutazione nel gene è chiamata mutazione de novo, il che significa che nessuno dei due genitori ha la mutazione; questa mutazione de novo molto probabilmente si è verificata spontaneamente durante le prime fasi dello sviluppo fetale. Ciò può essere confermato dai test genetici dei genitori. Nel caso di una mutazione de novo, la probabilità che i genitori abbiano un altro figlio con la stessa mutazione è molto bassa, sebbene il bambino affetto possa trasmettere la mutazione da adulto.

Nell'alfabeto, lettere diverse possono essere combinate per produrre parole utili e significative, ma solo se le lettere sono messe insieme nel modo corretto. Lo stesso vale per il DNA. Alcuni nucleotidi (l'unità di base del DNA) che si tratti di adenina (A), timina (T), citosina (C) o guanina (G) possono essere disposti in un modo specifico per formare il gene FOXP1, che a sua volta codifica un proteina specifica. Una mutazione missenso si verifica quando nel gene è presente un singolo interruttore nucleotidico del DNA. A volte un tale cambiamento è silenzioso e non ha alcun effetto sulla proteina codificata dal DNA. Altri cambiamenti provocano un cambiamento dell'amminoacido nella proteina per cui il gene codifica, che a volte può cambiare profondamente il modo in cui la proteina funziona.

Una mutazione missenso si verifica quando nel gene è presente un singolo interruttore nucleotidico del DNA. A volte un tale cambiamento è silenzioso e non ha alcun effetto sulla proteina codificata dal DNA. Altri cambiamenti provocano un cambiamento dell'amminoacido nella proteina per cui il gene codifica, che a volte può cambiare profondamente il modo in cui la proteina funziona.


● Applicants must hold PI status at a university/institution or an organization with 501(c)(3) status.

● Applicants must have an MD, PhD, or MD/PhD. Applicants with a master's degree in life sciences are also eligible if they are in a full-time academic position.

● Open to all stages of investigators post-graduate degree.

● Applicants working in all countries are welcome to apply.

● Co-Principal Investigators on the application are allowed.

Funding ranges, duration, and indirect costs:

Indirect costs will be paid at a rate of 10% of direct costs. Grants will typically be awarded up to a maximum of $75K including indirect costs for the first year. To complete a project requiring more than one year, PIs may submit a request to continue a research program in the following cycle. Funding for follow-on years will be contingent upon adequate progress achieved in the first year. Funding amounts for follow-on years can vary from initial requests. Our hope is to increase funding amounts in the future. If no additional funds are required, PIs can request a no-cost extension for up to 1 year.


Exceptions to the funding limit and to the 1-year duration of the initial awards may be granted. PIs seeking multi-year funding should present a strong argument that guaranteed multi-year funding is critical to project feasibility and success. If granted, the funding cap stated above will apply for each year, and projects must be concluded within 3 years of the start date. Similarly, projects that may have a profound impact toward the Foundation’s mission and require funds in excess of $75K may be proposed. Proposals that combine funding from the IFF with other sources are welcome.

Preference will be given to projects that adhere to the 1-year time frame and demonstrate efficient use of the funding provided. For this reason, applicants may choose to submit proposals requiring less than the $75K maximum.

RARE-X Data Collection Site:

The IFF would like to make researchers aware of the RARE-X Data Collection program, which has caregiver-entered data for over 200 patients with FOXP1 Syndrome. Researchers may request access to the data at this site:

Researchers may request data regardless of whether a proposal is submitted to this RFP, and use of the data will not affect the evaluation of proposals.

Letter of Intent:


Applicants must submit a letter of intent by September 13, 2024 in the form of a scientific abstract (250 word limit) describing their project prior to full submission of an application. PIs will be notified by September 24, 2024 whether they have been selected to submit a full proposal. Full proposals are due by November 1, 2024. Early submission of letters of intent prior to the September 13 deadline is highly encouraged.

Review process:


After final submissions are received, proposals will be sent to external reviewers. External reviewers will evaluate proposals based on the criteria below and submit their evaluations to the IFF. The Board of Directors and Scientific Advisory Board of the IFF will make final funding decisions.

Submission process:


All required components should be sent as a combined PDF email attachment to and CC to Dr. Samit Dasgupta ( with the subject line: “Letter of Intent–PI Full Name–Cycle 1” for the letter of intent and “Proposal Submission–PI Full Name–Cycle 1” for the full proposal.  By submitting the LOI and application, the applicant provides IFF permission to provide the materials to external

reviewers, the IFF Board and Scientific Advisory Board for evaluation purposes.

Required Components:

By September 13, 2024:

Letter of Intent – scientific abstract describing the proposed project (≤ 250words)

By November  1, 2024 (full application components):

The following information should be organized in this order within the PDF. Please use NIH formatting guidelines, particularly with respect to font and line spacing, as described here:

Project title

Lay abstract (≤ 250 words)

Scientific abstract (≤ 250 words) – can be the same as letter of intent or have minor updates.

Specific Aims (≤ 1 page)

Research strategy (≤ 3 pages not including references)

○ Should include background/significance, innovation, research approach including rationale, preliminary data (if applicable), methods, analysis plan, anticipated results/potential pitfalls/alternative approaches.

○ References should be included and do not count towards the page limit.

○ All graphs/charts must fit within the 3-page limit.

Description of Translational Potential (≤ 1 page)

○ Explain why the proposal plays an important role in a specific path toward the development of a treatment for FOXP1 Syndrome.

○ This section should be written to be understandable by both scientific and layperson audiences.

Data Management and Sharing Plan

Applicants may complete the NIH Data Management and Sharing Plan found


○ In lieu of completing the form above, applicants may provide a summary of ≤ 1 page explaining their data management and sharing plan, including how results will be released once the project is complete (publication, website article, etc.), the plan for sharing data and possible other products produced with other researchers, etc

○ By submitting a proposal, applicants agree to deliver a 1-hour live presentation over Zoom to the IFF describing project results following study completion.

Budget - Exact budget allocations as line items.

Budget justification - Short descriptions explaining budget line items.

CV or NIH-format biosketch of PI and any Co-PIs (≤ 5 pages)

Review criteria:

● Impact to forward the Foundation’s research mission: To accelerate the development of effective treatments for FOXP1 Syndrome.

● Investigator background and track record, and likelihood of success of the proposal.

● Feasibility of experimental strategy and/or novelty of research question(s) posed, including likelihood of project goals to be met within stated time frame.

● Potential for the proposed project to make important strides towards an eventual therapeutic strategy.

● Is the budget appropriate, and is this an effective use of Foundation funds?


Successful applicants will be notified by the end of January 2025. Applicants not selected for an award will receive a summary of reviews in an anonymous fashion at this time.

For grant-related inquiries, please contact

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