# Project 4: Berto

> **NIH NIH P20** · MEDICAL UNIVERSITY OF SOUTH CAROLINA · 2024 · $125,833

## Abstract

PROJECT 4 – SUMMARY 
Neurodevelopmental disorders (NDDs) are caused by abnormal development of molecular and synaptic 
networks in the brain and are characterized by developmental behavioral deficits with clear social and cognitive 
impairments. Approximately 15% of children in the United States ages 3 to 17 years are affected by NDDs which 
include autism spectrum disorders (ASD), attention-deficit hyperactivity disorder (ADHD), epilepsy, intellectual 
disability (ID), hearing impairments, visual/motor impairments, among others. Interestingly, NDDs, in particular 
ASD and ID, are also marked by a number of memory-related deficits, such as face identity recognition, working 
memory, and episodic memory. Nevertheless, the link between genes, memory phenotypes, and NDDs is poorly 
understood. This project focuses on the function of the NDD risk gene, IL1RAPL2, in human iPSC-derived 
excitatory neurons and in ASD-like and memory behaviors using a newly developed mouse model. We 
hypothesize that IL1RAPL2 plays a key role in neurodevelopmental disorders and memory phenotypes by 
regulating synapse development on cortical excitatory neurons. Aim 1 will take advantage of human IPSC- 
derived deep layer excitatory neurons with IL1RAPL2 loss-of-function (LoF) to understand its function in the 
transcriptomic landscapes, in regulation of dendritic arborization and spine density, and in neuronal excitability 
and synaptic transmission. Aim 2 will take advantage of a new mouse model with a global Il1rapl2 LoF to mimic 
LoF mutations in humans, that will enable an understanding of its role in NDDs and memory related behaviors. 
The NIH COBRE in Neurodevelopment and Its Disorders (CNDD) will provide an ideal environment, critical 
resources and Cores, and career development opportunities to enable the successful transition of Dr. Berto to 
an established, independent investigator at MUSC. Moreover, the proposed studies, and approaches employed, 
are important and highly relevant to the mission and theme of the CNDD, and the Project data will prepare Dr. 
Berto for a future competitive R01 application.

## Key facts

- **NIH application ID:** 10814768
- **Project number:** 5P20GM148302-02
- **Recipient organization:** MEDICAL UNIVERSITY OF SOUTH CAROLINA
- **Principal Investigator:** Stefano Berto
- **Activity code:** P20 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $125,833
- **Award type:** 5
- **Project period:** 2023-04-01 → 2024-09-19

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10814768

## Citation

> US National Institutes of Health, RePORTER application 10814768, Project 4: Berto (5P20GM148302-02). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10814768. Licensed CC0.

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