Identifying genetic causes of rare diseases in children using advanced DNA sequencing
Official title: Long-read genome sequencing for the discovery of highly penetrant variation in rare diseases
Funded at Hudson-Alpha Institute for Biotechnology · NIH-10881397 · Data updated 2026-11-12
This study is looking to find hidden genetic clues that might explain rare brain development disorders in kids by analyzing DNA from 500 affected children and their parents, so families can better understand their child's condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Hudson-Alpha Institute for Biotechnology NIH-funded |
| Lab location | 1 site (Huntsville, United States) |
| Project start | August 16, 2024 |
| Project end | June 30, 2029 |
| Funding year | 2024 |
| Award (this year) | $603,726 |
| NIH project number | 1R01HD112437-01A1 |
| Project ID | NIH-10881397 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children under 11 years old who are affected by rare neurodevelopmental disorders.
✕Less likely to help
Patients who do not have rare genetic disorders or are over the age of 11 may not benefit from this research.
What this research studies
This research aims to enhance the identification of genetic factors contributing to rare diseases, particularly neurodevelopmental disorders in children. By utilizing a cutting-edge DNA sequencing technology called HiFi from Pacific Biosciences, the project will sequence the genomes of 500 affected children and their parents to uncover genetic variants that may have been overlooked by traditional methods. The study will generate detailed genetic maps and analyze the data to pinpoint variants that could be linked to the children's symptoms. If relevant variants are identified, genetic counselors will communicate these findings to the families, providing them with valuable insights into their child's condition.
Why it matters
Potential benefit: If successful, this research could lead to more accurate diagnoses and targeted treatments for children with rare genetic disorders.
How similar studies have gone: Previous research using advanced genome sequencing technologies has shown promise in identifying genetic variants associated with various conditions, suggesting a strong potential for success in this approach.
Where this research is happening
-
Hudson-Alpha Institute for Biotechnology
Huntsville, United States Active
Researchers
- Principal investigator: Cooper, Gregory Michael — Hudson-Alpha Institute for Biotechnology
- Study coordinator: Cooper, Gregory Michael
Related research
Other NIH-funded projects on the same topics.
-
Liver pathobiology from rare liver diseases
A study at UCSF looks at why rare liver conditions cause liver damage, with the aim of finding new ways to diagnose and treat chronic liver disease.
-
Data Management and Coordinating Center support for Rare Diseases Research
A national rare diseases research program is funding a center to manage data and coordinate studies to help improve diagnosis, care, and potential treatments for children with rare conditions.
-
EEG-based drug repurposing for rare CNS diseases
A new approach uses EEG brain signatures to find existing drugs that might help people with rare nervous-system disorders.
-
Ethics of Engaging Patient Groups in Drug Development for Rare Diseases
This grant asks how patient and family groups can ethically help shape rare-disease drug development from idea to market, with input from patients, families, doctors, and researchers.
-
Center for Polyamine Disorders group study of rare metabolic disorders
A research consortium is studying a group of rare metabolic disorders linked to polyamines and aims to understand symptoms, biomarkers, and disease progression to improve care.
-
Encore: speeding up finding new uses for existing drugs to help kids with rare diseases
A big NIH project will test thousands of existing medicines to see if any can help treat rare genetic diseases in children.
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.