New ways to detect mosaic chromosome changes

Novel methods for detection of mosaic chromosomal alterations

NIH-funded research University of Pennsylvania · NIH-11184492

This project develops lab and computer methods to find large chromosome changes that can appear in blood, kidney, and other tissues, especially in aging-related diseases.

Quick facts

Grant typeR21 grant
Study typeNIH-funded research
Funding institutionUniversity of Pennsylvania NIH-funded
Lab location1 site (Philadelphia, United States)
Project IDNIH-11184492 on NIH RePORTER

What this research studies

Researchers will combine single-cell sequencing and ATAC-seq lab methods with new computational algorithms to find mosaic chromosomal alterations (mCA) that exist in only a small fraction of cells. They will apply these methods to blood and kidney samples and explore whether mCA are present in other non-cancer tissues. The team will also work on locating mCA within tissue slices to understand where altered cells sit in the organ. By focusing on non-clonal and hard-to-detect events, the project aims to uncover chromosome changes missed by cancer-focused tools.

Who could benefit from this research

Good fit: Ideal candidates would be adults who can provide blood or kidney tissue samples, especially older adults or people with kidney, heart, or related conditions.

Not a fit: People without available tissue samples or whose conditions are unrelated to mosaic chromosomal alterations are unlikely to benefit directly from this project.

Why it matters

Potential benefit: If successful, these methods could make it easier to detect hidden chromosome changes that contribute to aging, kidney disease, heart disease, and cancer, helping guide future diagnosis and research.

How similar studies have performed: Previous work has successfully detected mCA in blood and more recently in kidney using single-cell sequencing, but applying tailored lab assays and algorithms to non-cancer tissues is a newer approach.

Where this research is happening

Philadelphia, 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.
Last reviewed 2026-06-09 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.