Genetic causes of cerebral palsy in families with multiple affected children
Genomic analysis of the Multiplex, Autozygous Populations in Cerebral Palsy (MAP CP) cohort: a focused approach to a complex disease
Using DNA from families that have more than one child with cerebral palsy to find inherited gene changes that may explain a child's symptoms.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Arizona NIH-funded |
| Lab location | 1 site (Tucson, United States) |
| Project ID | NIH-11319748 on NIH RePORTER |
What this research studies
This project collects blood or tissue samples from families where two or more children have cerebral palsy, especially when relatives share ancestry or parents are related. Researchers will sequence and compare genomes to look for rare, inherited (autosomal recessive) variants that are shared among affected family members. By focusing on multiplex and autozygous families rather than isolated parent-child trios, the team aims to find genetic causes that might be missed by other approaches. When a genetic cause is identified it may be returned to families and could influence medical care, counseling, or future testing plans.
Who could benefit from this research
Good fit: Best suited for families with two or more children diagnosed with cerebral palsy, particularly when parents are related or come from populations with higher rates of consanguinity.
Not a fit: Children whose CP is clearly explained by a known perinatal event such as severe prematurity or a documented perinatal stroke are less likely to receive a new genetic diagnosis from this work.
Why it matters
Potential benefit: A genetic diagnosis could clarify the cause of a child's CP, guide medical decisions, and help with genetic counseling for the family.
How similar studies have performed: Previous genetic sequencing efforts have identified likely genetic causes in a substantial fraction of CP cases and have led to management changes in over 20% of diagnosed families, so this family-focused approach builds on promising prior results.
Where this research is happening
Tucson, United States
- University of Arizona — Tucson, United States (Active)
Researchers
- Principal investigator: Kruer, Michael C — University of Arizona
- Study coordinator: Kruer, Michael C
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.