How genes on the X chromosome affect brain function and Alzheimer's in Down Syndrome
The contribution of X-chromosome-linked genes to cellular phenotypes and AD-related pathology in Down Syndrome
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 ID | NIH-10747411 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with Down Syndrome, particularly those experiencing cognitive challenges or early signs of Alzheimer's Disease.
Not a fit: Patients without Down Syndrome or those who do not exhibit cognitive disabilities may not benefit from this research.
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 performed: 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, United States
- Boston University Medical Campus — Boston, United States (Active)
Researchers
- Principal investigator: Zeldich, Ella — Boston University Medical Campus
- Study coordinator: Zeldich, Ella
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 below.