Recessive (inherited) causes of intellectual disability and related neurological disorders
Genetics and Functional Studies of Autosomal Recessive Neurological Disorders
['FUNDING_R01'] · UNIVERSITY OF MARYLAND BALTIMORE · NIH-11136325
This project looks for inherited gene changes that cause intellectual disability and autism and tests how those genes change brain cells.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF MARYLAND BALTIMORE (nih funded) |
| Locations | 1 site (BALTIMORE, UNITED STATES) |
| Trial ID | NIH-11136325 on ClinicalTrials.gov |
What this research studies
Researchers are expanding the list of genes that can cause intellectual disability and autism when inherited in a recessive pattern. They will analyze DNA from affected individuals and families and apply bioinformatics to pinpoint candidate gene variants. Lab experiments will test how those variants alter neuron structure and function using cellular and model-system assays. The work builds on prior resources to link specific genetic changes to disrupted brain development.
Who could benefit from this research
Good fit: Ideal candidates are people with unexplained intellectual disability or autism, especially from families with multiple affected members or consanguineous backgrounds where recessive inheritance is suspected.
Not a fit: People whose conditions are clearly due to non-genetic causes or to dominant/complex genetic mechanisms may not receive direct benefit from this project.
Why it matters
Potential benefit: Could lead to clearer genetic diagnoses and point to biological targets for future treatments or prevention strategies.
How similar studies have performed: Previous gene-discovery and functional studies have successfully identified many causes of intellectual disability, and this project extends those proven methods to find additional genes.
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.
Conditions: Autistic Disorder