Transport system of essential materials in brain cells disrupted in certain genetic developmental disorders.
University of Maryland School of Medicine (UMSOM) researchers identified a new gene that may be linked to certain neurodevelopmental disorders and intellectual disabilities. The researchers believe that finding genes involved in certain types of developmental disorders, provide an important first step in determining the cause of these disorders and ultimately in developing potential therapies for treating them.
About 3 percent of the world’s population has intellectual disability. Up to half the cases are due to genetics, however, because many thousands of genes contribute to brain development, it has been difficult to identify the specific cause for each patient.Once the researchers identified the gene, they worked with collaborators to give clinical diagnoses to 10 other families around the world, who had relatives with this condition. The researchers also used zebrafish to show the gene’s role in development and survival, demonstrating its importance in helping the brain’s neurons function properly.
“Our goal is to find as many of these genes required for brain function and take this knowledge back to patients and families to provide a clinically relevant genetic diagnosis,” says Saima Riazuddin, PhD, MPH, MBA, Professor of Otorhinolaryngology-Head & Neck Surgery and Biochemistry & Molecular Biology at UMSOM. Dr. Riazuddin and her team collaborate regularly with several scientists in Pakistan studying a group of 350 families geographically isolated, which as a result has led to inbreeding resulting in genetic disorders such as neurodevelopmental disorder and intellectual disability.
