How genes on the X chromosome affect brain function and Alzheimer's in Down Syndrome
Official title: The contribution of X-chromosome-linked genes to cellular phenotypes and AD-related pathology in Down Syndrome
Funded at Boston University Medical Campus · NIH-10747411 · Data updated 2026-11-12
This study is looking at how certain genes on the X chromosome affect brain cells in people with Down Syndrome and their link to early Alzheimer's Disease, using special lab-grown brain cells to better understand these connections and how they might impact thinking and memory.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston University Medical Campus NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | December 1, 2022 |
| Project end | November 30, 2025 |
| Funding year | 2024 |
| Award (this year) | $206,250 |
| NIH project number | 5R21AG080269-02 |
| Project ID | NIH-10747411 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals with Down Syndrome, particularly those experiencing cognitive challenges or early signs of Alzheimer's Disease.
✕Less likely to help
Patients without Down Syndrome or those who do not exhibit cognitive disabilities may not benefit from this research.
What this research studies
This research investigates the role of X-chromosome-linked genes in the brain cells of individuals with Down Syndrome (DS) and their connection to early onset Alzheimer's Disease (AD). By using induced pluripotent stem cells (iPSCs) derived from individuals with DS, the researchers create brain-like structures to study gene expression differences. They aim to understand how these genetic factors contribute to cognitive disabilities and the development of AD-related pathology. The study employs advanced techniques like single-cell RNA sequencing to analyze the cellular changes in trisomic brain cells compared to normal cells.
Why it matters
Potential benefit: If successful, this research could lead to new insights into the genetic factors that contribute to cognitive disabilities and Alzheimer's Disease in individuals with Down Syndrome, potentially guiding future therapies.
How similar studies have gone: While the specific approach of this research is novel, previous studies have shown success in using stem cells to investigate genetic contributions to neurodegenerative diseases.
Where this research is happening
-
Boston University Medical Campus
Boston, United States Active
Researchers
- Principal investigator: Zeldich, Ella — Boston University Medical Campus
- Study coordinator: Zeldich, Ella
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.
-
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.