Predicting Fragile X Syndrome severity with new long-read sequencing markers
Official title: Leveraging Long-Read Sequencing to Predict Disease Severity in Fragile X Syndrome
Funded at Cincinnati Childrens Hosp Med Ctr · NIH-11312781 · Data updated 2026-11-12
A small R21 study will explore genetic and molecular markers from long-read sequencing to help forecast how severely Fragile X affects a patient.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Cincinnati Childrens Hosp Med Ctr NIH-funded |
| Lab location | 1 site (Cincinnati, United States) |
| Project start | September 1, 2026 |
| Project end | August 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $445,500 |
| NIH project number | 1R21HD118656-01A1 |
| Project ID | NIH-11312781 on NIH RePORTER |
Who could benefit from this research
✓Could help
Individuals with Fragile X Syndrome or related autism spectrum presentations who are assessed for disease severity.
✕Less likely to help
Patients whose condition does not correlate with the studied biomarkers or who do not meet assay requirements may not benefit.
What this research studies
This project aims to find early, reliable markers that correlate with how severely Fragile X Syndrome presents in individuals. Researchers will develop and test sensitive genetic and molecular assays and see how well these markers predict disease outcomes. The goal is to move toward personalized approaches rather than a one-size-fits-all treatment by identifying predictors of severity. The study builds on a recently optimized assay that detects FMRP levels in blood to inform prognosis. If successful, these markers could guide earlier and more tailored therapies for patients and families.
Why it matters
Potential benefit: If successful, patients could receive more personalized care plans aligned with their likely disease trajectory.
How similar studies have gone: Previous work has shown promise with blood-based FMRP detection, but this project tests new long-read sequencing markers for severity prediction.
Where this research is happening
-
Cincinnati Childrens Hosp Med Ctr
Cincinnati, United States Active
Researchers
- Principal investigator: Erickson, Craig — Cincinnati Childrens Hosp Med Ctr
- Study coordinator: Erickson, Craig
Related research
Other NIH-funded projects on the same topics.
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Understanding Fragile X Syndrome: How it progresses and affects daily life
A long-term study using existing Fragile X data to map how the condition changes over time in children and young adults, including how autism, race, and location influence outcomes.
-
Sleep and mood links in Fragile X Syndrome
A short, patient-friendly study to understand how sleep problems relate to mood and depressive symptoms in people with Fragile X–linked autism.
-
Connecting 3D genome misfolding to gene silencing in Fragile X syndrome
A study in people with Fragile X syndrome focuses on how 3D genome folding errors may turn off important genes, contributing to the condition’s features.
-
Cortical circuit problems in Fragile X mice and people
Researchers are studying how brain circuits go awry in Fragile X syndrome by comparing mice and people to understand why certain brain rhythms and responses are altered.
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Brain biology in fragile X syndrome: how brain signals unfold and vary in patients
This grant supports research to understand brain signals and why symptoms vary in people with fragile X syndrome, aiming to translate findings into better care.
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Brain research on Fragile X Syndrome to improve therapies
A multi-year program studies brain function and differences in Fragile X Syndrome to help develop better treatments for people with FXS.
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.