Understanding how metabolism affects brain development in Down syndrome
Official title: Nuclear-Metabolic Interplay in Down syndrome
Funded at University of California, San Diego · NIH-11137615 · Data updated 2026-11-12
This study is looking at how the way our cells use energy affects brain development in people with Down syndrome, using special cells from humans and mice to find out how these processes might help improve brain function and support better outcomes for those with the condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Diego NIH-funded |
| Lab location | 1 site (La Jolla, United States) |
| Project start | July 15, 2024 |
| Project end | April 30, 2029 |
| Funding year | 2025 |
| Award (this year) | $656,942 |
| NIH project number | 5R01HD115635-02 |
| Project ID | NIH-11137615 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with Down syndrome, particularly those experiencing cognitive or developmental challenges.
✕Less likely to help
Patients without Down syndrome or those who do not exhibit neurodevelopmental issues may not benefit from this research.
What this research studies
This research investigates the relationship between cellular metabolism and brain development in individuals with Down syndrome (DS). By using human stem cell and mouse models, the study aims to explore how metabolic processes influence the proliferation and differentiation of neural progenitor cells, which are crucial for proper brain function. The researchers will focus on three key metabolic pathways: glycolysis, lipid/cholesterol metabolism, and histone acetylation. The goal is to uncover the mechanisms that lead to neurodevelopmental challenges in DS and identify potential therapeutic strategies to improve outcomes for affected individuals.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that improve brain development and cognitive function in individuals with Down syndrome.
How similar studies have gone: Previous research has shown promising results in understanding metabolic influences on neurodevelopment, suggesting that this approach could yield valuable insights.
Where this research is happening
-
University of California, San Diego
La Jolla, United States Active
Researchers
- Principal investigator: Meharena, Hiruy Sibhatu — University of California, San Diego
- Study coordinator: Meharena, Hiruy Sibhatu
Related research
Other NIH-funded projects on the same topics.
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Exploring how Down syndrome affects optic nerve health in kids
A study using a mouse model to understand why optic nerve problems are common in children with Down syndrome and how to prevent them.
-
Executive Function Enhancement for Young Children with Down Syndrome
A caregiver-guided program for kids with Down syndrome aged up to 11 to strengthen their thinking skills during early childhood.
-
Silencing an Extra Chromosome to Help Down Syndrome and Related Conditions
A patient-friendly plan to use a gene-based approach to quiet an extra chromosome in cells and a mouse model to reduce disease-related effects in Down syndrome and other chromosomal imbalance disorders.
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Infant Down Syndrome Brain and Behavior Study
A study of infants with Down syndrome to collect brain imaging and developmental data, creating a large, shared resource to understand how autism and other factors relate to development.
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DS-ARC: Smartphone-based cognitive check for people with Down syndrome at risk for Alzheimer’s
A smartphone-based cognitive test is being developed and tested for people with Down syndrome who may develop Alzheimer’s disease, to track changes quietly in daily life.
-
Immune and NGF factors in Alzheimer’s for adults with Down syndrome
This grant studies why people with Down syndrome develop Alzheimer’s disease by looking at immune signals and nerve growth factor problems.
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.