GRIN2B Foundation is pleased to announce an award of $56,457 to one post-doctoral research effort in its 2019 inaugural research grant initiative to promote scientific understanding of the ultra-rare genetic condition known as GRIN2B-Related Neurodevelopmental Disorder.
The grant is designed to support research in the 2019 funding cycle on changes to the GRIN2B gene, which have been linked to Intellectual Disability and symptoms of Autism in hundreds of children.
The recipient of GRIN2B Foundation’s 2019 research grant is Dr. Caitlin M. Hudac, an Assistant Professor at the University of Alabama for her research project entitled, “Linking Brain and Behavior: A GRIN2B Biomarker.”
Dr. Hudac will link a promising electroencephalography (EEG) based candidate biological indicator (“biomarker”) to clinical behaviors of children with disruptive GRIN2B mutations. EEG biomarkers will aid in the interpretation of GRIN2B function, by capturing real-time pictures of the neural process by which children with GRIN2B mutations think. This candidate biomarker can potentially be used as a clinical outcome assessment. This project will teach us about how brain markers of attention relate to the clinical behaviors observed in children with disruptive GRIN2B mutations. Testing a brain-based biomarker will prepare researchers for clinical trials and other treatment-focused research. To conduct her research, Dr. Hudac will perform EEGs on various research subjects with GRIN2B-Related Neurodevelopmental disorder.
The original scope of this project was to study 10 research subjects. After a rigorous review process, it was determined the project would be more successful with a larger cohort of 25 patients. The team at GRIN2B Foundation worked with Dr. Hudac to modify the proposal for a larger scope and agreed to increase funding from the original grant amount of $40,000 to $56,457.
Dr. Hudac works at the University of Alabama in the Center for Youth Development and Intervention (CYDI) and the Department of Psychology. Her program of research examines how the brain develops from birth through adulthood with a focus on potential areas of divergence associated with neurodevelopmental disorders (e.g., autism spectrum disorder, ASD; intellectual disability, ID).
Read more about Caitlin and her research study here.
Samuel Kwon, GRIN2B Foundation’s Science Director, was instrumental in guiding the GRIN2B Foundation Board of Directors through this inaugural grant cycle.
Kwon says, “Although GRIN2B-Related Neurodevelopmental Disorder is caused by variations in a single gene, multiple brain areas are affected because the product of GRIN2B gene is important for communication between brain cells in several different areas. Developing effective therapeutic interventions has been challenging due to the lack of a reliable indicator that captures an overall state of the brain during a specific behavior. Caitlin Hudac will combine EEG and a sensory processing task in human GRIN2B patients to develop a novel biomarker based on brain activity. Such development will enable a robust clinical outcome assessment and provide a link between behavioral deficits and brain activity in human patients.”
In the near future, Dr. Hudac and GRIN2B Foundation will begin seeking out families who may wish to participate in this study. Potential subjects must be willing to travel to Alabama for the study. Travel stipends will be available. Additionally, GRIN2B Foundation will ask Dr. Hudac to travel to Chicago next Summer for the recently-announced Family Weekend, where she can work with additional research subjects.
If they haven’t already done so, families should register with GRIN2B Foundation’s Contact Registry to ensure they receive all updates on this important study.
GRIN2B Foundation has seen the affected patient community grow from a mere handful to over 300 in the last few years. “This is a very exciting and important time of growth for both our organization and our extended GRIN disorder patient community,” said Liz Marfia-Ash, President of GRIN2B Foundation. “We believe our research grants, combined with our close collaboration between researchers, our patient community and our growing family of GRIN gene disorder patient groups & organizations will be critical to finding treatments and cures.”
This Grant program is only possible thanks to the efforts, integrity and guidance of the following groups, organizations and individuals:
GF Medical Advisory Board & Science Director
Dr. Katherine Roche, NIH
Kristin Goltry, NIH
The International Foundation for CDKL5 Research
“We have worked aggressively to raise awareness and fundraise, and our success is directly attributed to an engaged community of GRIN2B parents, families and friends who have rallied around us. We hope this research study is the first of many we can help foster through our funding program.” – Liz Marfia-Ash