Unusual DNA shapes and how they change the human genome
Non-B DNA and Genome Evolution
['FUNDING_OTHER'] · PENNSYLVANIA STATE UNIVERSITY, THE · NIH-11258913
Researchers are looking at unusual DNA shapes in the human genome to understand why mutations happen and how that may relate to conditions like ALS and cancer.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | PENNSYLVANIA STATE UNIVERSITY, THE (nih funded) |
| Locations | 1 site (UNIVERSITY PARK, UNITED STATES) |
| Trial ID | NIH-11258913 on ClinicalTrials.gov |
What this research studies
The team will use laboratory experiments and computer analyses to study sections of human DNA that can fold into non-standard shapes (for example, G-quadruplexes and Z-DNA). They will observe when and where these non-B DNA structures form in cells, how they respond to stress or different stages of development, and whether their formation leads to more mutations. By comparing patterns across species and human genomic data, the researchers aim to show how these structures have influenced genome evolution and disease risk.
Who could benefit from this research
Good fit: People with ALS, certain cancers, strong family histories of genetic mutations, or those willing to provide blood or tissue samples for genomic research would be the most relevant candidates to participate or contribute.
Not a fit: Patients seeking immediate clinical treatments or those whose conditions are not linked to genetic mutation processes are unlikely to get direct benefit from this basic research in the near term.
Why it matters
Potential benefit: If successful, this work could uncover genetic signals tied to mutation hotspots that help guide future diagnostics or treatments for diseases like ALS and cancer.
How similar studies have performed: Laboratories have previously shown that non-B DNA structures form in cells and can be linked to mutation, but applying those findings to clinical tests or therapies is still early and exploratory.
Where this research is happening
UNIVERSITY PARK, UNITED STATES
- PENNSYLVANIA STATE UNIVERSITY, THE — UNIVERSITY PARK, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: MAKOVA, KATERYNA — PENNSYLVANIA STATE UNIVERSITY, THE
- Study coordinator: MAKOVA, KATERYNA
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.
Conditions: Amyotrophic Lateral Sclerosis Motor Neuron Disease, Cancers