As part of DevSci’s overarching goal to catalyze high-impact collaborations in developmental sciences, our seed fund competition with the Administrative Core strives to target inventive research that synthesizes a transdisciplinary methodology. This year’s grant of $10,000 will go to a project titled “Establishing biomarkers for early diagnosis and prognostication in Sturge-Weber syndrome” submitted by Tracy Gertler (PI), Gemma Carvill (Co-I), and Sarah Chamlin (Co-I).
Sturge-Weber Syndrome is a congenital disorder caused by the GNAQ gene mutation, characterized by a congenital facial birthmark and neurological abnormalities. Children with SWS variably develop seizures and strokes in affected brain tissue, leading to further developmental deficits. However, the severity of this disease is modifiable and, according to the team, directly related to successful prevention of neurologic complications.
The proposals centers upon cfDNA as a novel strategy to noninvasively monitor cell death within affected brain tissue for the purpose of precise use of aspirin and anticonvulsants, and application of newer therapies as they emerge. This study hypothesizes the cell-free DNA of affected brain tissue, defined by pathogenic GNAQ variant detection and methylation pattern, increases in SWS patients at highest risk due to early seizure and stroke. The presence and quantity of cfDNA exhibiting the GNAQ pathogenic variant is a potential biomarker for SWS disease progression. If successful, a cfDNA biomarker of early neurologic injury in a SWS patient may inform early aspirin and anticonvulsant therapies, thereby improving the developmental trajectory for children with SWS.
We are also pleased to name Tracy Gertler as this year’s DevSci Linzer Fellow. These fellowships were created in honor of the vision and leadership of former Northwestern Provost, Daniel Linzer, for his dedication to innovative interdisciplinary collaboration at Northwestern.
“Establishing biomarkers for early diagnosis and prognostication in Sturge-Weber syndrome”
PI: Tracy Gertler, MD PhD, Instructor; Pediatric Neurology, Lurie Children’s Hospital
Co-I: Gemma Carvill, PhD, Assistant Professor; Neurology and Pharmacology, Northwestern University FSM
Co-I: Sarah Chamlin, MD, Associate Professor, Dermatology, Lurie Children’s Hospital