How an extra APP gene affects brain growth and Alzheimer’s in Down syndrome

The role of APP in neurogenesis and AD in Down syndrome

NIH-funded research University of Illinois at Chicago · NIH-11297675

This work looks at whether having an extra copy of the APP gene harms brain cell growth and leads to Alzheimer’s changes in people with Down syndrome.

Quick facts

Grant typeR01 grant
Study typeNIH-funded research
Funding institutionUniversity of Illinois at Chicago NIH-funded
Lab location1 site (Chicago, UNITED STATES)
Project IDNIH-11297675 on NIH RePORTER

What this research studies

Researchers are using stem cells from people with Down syndrome to grow tiny brain-like organoids that model early brain development. They use CRISPR gene editing to remove one copy of the APP gene in these cells and compare organoids with and without the extra APP copy. The team will examine neural stem cell proliferation, neuron formation, cortical layering, and early signs of Alzheimer’s pathology such as amyloid accumulation. The aim is to find out if APP overdose drives the neurodevelopmental problems and Alzheimer’s changes seen in Down syndrome.

Who could benefit from this research

Good fit: People with Down syndrome (or their legal guardians) who can provide consent to donate blood or skin samples for iPSC generation would be ideal candidates to contribute samples for this research.

Not a fit: People without Down syndrome or those seeking immediate clinical treatments should not expect direct benefits from this lab-based, preclinical work.

Why it matters

Potential benefit: If successful, this work could point to APP as a target for treatments that prevent or delay Alzheimer’s changes and improve brain development in people with Down syndrome.

How similar studies have performed: Prior cell and organoid research has linked APP to neuronal development and Aβ production, but using CRISPR to remove an APP copy in Down syndrome-derived organoids is relatively new.

Where this research is happening

Chicago, UNITED STATES

Researchers

About this research

  1. This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
  2. Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
  3. For full project details, budget, and progress reports, visit the official NIH RePORTER page below.
Conditions Alzheimer disease dementiaAlzheimer syndrome
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.