Over the past twenty years, Rebecca Ihrie, PhD has focused her research on the programs that govern brain development, and how these precise molecular instructions are disrupted in neurodevelopmental disorders. In 2012, she began collaborating with Dr. Kevin Ess to understand the origins, features, and possible treatments for neurological symptoms in TSC. Together, their groups have studied animal models, patient-derived stem cells, and epilepsy tissues to identify timepoints and cell types in the growing brain that are strongly affected by TSC1 or TSC2 mutations. In these systems, they have deployed advanced techniques that measure protein activity in millions of individual cells, together with data science tools that pinpoint rare and unexpected cell populations like those seen in patient tubers and SEGAs. Her ultimate goal is to produce science that enables precisely tailored treatments, reducing toxicity while deploying therapies at times in human development when they are likely to be the most effective. Currently, the Ihrie and Ess groups are building on recent research findings indicating that TSC2 mutations change how the instructions within the genome are executed by developing brain cells – leading to improperly maturing neurons early in development.
Dr. Ihrie served as co-chair for the 2021 and 2023 International Research Conferences on TSC & LAM and continues to be actively engaged with the Biosample Repository /Natural History Database and regional family focused events such as Step Forward to Cure TSC. She highlights interactions between all the passionate and engaged members of the TSC community – patients, families, scientists, clinicians, and pharmaceutical companies – as a very special feature of the conference and a powerful motivator for the scientists in her group.
Dr. Ihrie credits seed funding from the TSC Alliance Research Grants Program with launching her laboratory. “The TSC Alliance grant program supports a critical time in the career of research scientists – when they have just become independent and are planning the direction of their lab for the decades to come. These research grants help young faculty devote their time to TSC research and build the portfolio of data that’s essential for obtaining long term resources from the DOW, NIH, and other sources, so we can continue making new discoveries with the ultimate goal of developing new options for people with TSC.”
Help the TSC Alliance accelerate TSC research by donating to the 50 Forward Fund!