Angelique Bordey, PhD, professor of neurosurgery at Yale School of Medicine, has received the prestigious Scientific Innovations Award from Brain Research Foundation for her research on the disease, tuberous sclerosis complex (TSC). Brain Research Foundation is the oldest brain research organization in the United States and gives out grants to scientists for research on a wide range of neurological disorders, with a focus on “bold” ideas.
“The BRF Scientific Innovations Award is designed to support science that reflects thinking outside the box, creative ideas that might have a great impact but don’t quite fit the way most scientists are thinking about the problem. Conventional funding sources are reluctant to support such ideas because they can be risky,” says Dr. Scott T. Brady, PhD, chair of the Scientific Review Committee of Brain Research Foundation and professor of anatomy and cell biology at University of Chicago, Illinois.
Dr. Bordey’s lab received the award for their ongoing work on understanding TSC, a rare disease that causes brain malformations and tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. The disease can cause seizures and autism in many cases and is poorly understood. Despite accounting for 4-14% of all autism cases, there is currently no treatment for TSC-associated autism.
During their research, they began noticing abnormalities in the number of ribosomes in gene arrays and hypothesized that it could be the key to understanding autism symptoms in patients. After all, elevated levels of proteins is one of the main characteristics associated with the autism symptoms in TSC and ribosomes are the protein synthesis powerhouses of the cell. “Maybe we’re not looking at the starting point,” says Dr. Bordey.
For the BRF grant, Dr. Bordey’s lab proposed to study ribosomal activity using a newly developed mouse model of TSC.
“Dr. Bordey has focused on a common feature of many autism spectrum disorders (ASDs): a failure to refine synaptic connections during development. Asking what mechanisms could be responsible for producing these abnormal connections led her to propose a novel mechanism and a clever way to test that mechanism. New ways of thinking about complex disorders are needed to make progress,” says Dr. Brady.
Earlier last year, Dr. Bordey and her collaborators made major headway into understanding TSC through two papers published in Science Translational Medicine that identified two potential pathways for blocking seizures in patients with TSC. With the additional support from Brain Research Foundation, Dr. Bordey will be able to fund additional research into the autism aspect of the disease.
“It's amazing to be able to embark on a new question with a potential high impact for uncovering the causes of a neurodevelopmental disorder with a high risk of autism,” says Dr. Bordey.