Researchers at the NRI uncover novel findings to advance neuroscience

Researchers at the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children’s continue to develop innovative ways to unlock the genetic and molecular mysteries behind a number of devastating neurological diseases with the ultimate goal of developing new treatments to improve the quality of life for patients. Their tireless efforts in advancing neuroscience research does not go unnoticed.

New study: Fruit fly study identifies a new link to aortic aneurysms

An interdisciplinary team of researchers in the Bellen Lab at the NRI identified a new gene linked to human aortic aneurysms. By combining genetic studies in the fruit fly, dataset searches and analysis of diseased human aortic tissue, the researchers shed light on mechanisms not previously known to be associated with this disease.

“One of the goals of our lab is to conduct genetic screens in the fruit fly to identify genes that cause neurodevelopmental and neurodegenerative disorders in people,” said Dr. Hugo Bellen, professor of molecular and human genetics and neuroscience at Baylor College of Medicine and an investigator at the Jan and Dan Duncan Neurological Research Institute at Texas Children’s. “We have identified 165 genes, mapped them and cloned them. The gene we studied here, ari-1, is one of these genes.”

Researchers studied the ari-1 gene to investigate a possible connection with the gene parkin, linked to Parkinson’s disease. Working with fruit flies carrying mutations of ari-1, researchers screened the flies’ tissues looking for anomalies, and they found that muscle cells from ari-1 mutants displayed a clustering of nuclei similar to what one would observe in an injured or sick muscle.

Furthermore, the researchers found an interesting connection between the proteins ari-1 and parkin. “We found that the proteins can form complexes with themselves and with each other and that the functions of Ari-1 and Parking overlap to some degree,” Bellen said.

Click here to read the full article about this study published in the journal Developmental Cell.

FDA approves treatment first discovered at Texas Children’s for tuberous sclerosis-related seizures

The Food and Drug Administration (FDA) recently approved a new medication to treat tuberous sclerosis-associated seizures, a treatment that was first discovered at the Gordon and Mary Cain Pediatric Neurology Research Laboratories located in the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital and Baylor College of Medicine.

The FDA’s approval of everolimus addresses a huge unmet need for tuberous sclerosis patients since 60 percent of them are unresponsive to the usual anti-epileptic medications. Click here to read the full article on this breakthrough in the treatment of refractory epilepsy in tuberous sclerosis patients.