Inherited (autosomal recessive) causes of developmental and neurological disorders
Genetics and Functional Studies of Autosomal Recessive Neurological Disorders
This project looks for inherited genetic changes that cause intellectual disability and autism and explains how those changes affect brain cells and everyday skills.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Maryland Baltimore NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project ID | NIH-11393491 on NIH RePORTER |
What this research studies
As someone affected by developmental or autistic conditions, this work tries to find gene changes that run in families and can lead to thinking and learning problems. The team uses DNA analysis, computer-based bioinformatics, and lab tests to see how altered genes change neuron structure and function, building on resources from earlier work. They compare patient genetic information with biological experiments in cells or models to connect specific gene variants to symptoms. The goal is to give clearer causes so families can get better diagnoses and researchers can pursue new treatment ideas.
Who could benefit from this research
Good fit: People with unexplained intellectual disability, autism spectrum disorder, or families with suspected autosomal recessive patterns who can provide medical history and genetic samples are the best candidates.
Not a fit: Patients whose conditions are known to be non-genetic or caused by issues unrelated to autosomal recessive gene variants may not directly benefit from this work.
Why it matters
Potential benefit: If successful, this work could give more families precise genetic diagnoses and point to new targets for therapies or prevention.
How similar studies have performed: Previous genetic and functional studies have successfully identified many genes tied to intellectual disability and autism, and this project extends those proven approaches to find additional causes.
Where this research is happening
Baltimore, United States
- University of Maryland Baltimore — Baltimore, United States (Active)
Researchers
- Principal investigator: Riazuddin, Saima — University of Maryland Baltimore
- Study coordinator: Riazuddin, Saima
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.