Auts2 is a newly discovered key neurodevelopmental gene. Mutations in the Auts2 locus cause autism, epilepsy, and mental retardation in humans, but little is known about the function of this gene or its role during neurodevelopment. The Stubbs lab is analyzing the role of AUTS2 in differentiation of neurons in culture to ask what the function of AUTS2 is in normal neurodevelopment. The lab is utilizing a unique translocation mutant called 16Gso which displays epileptic and autistic-like behaviors resulting from a reduction in AUTS2 expression to examine how AUTS2 disruption can lead to abnormal neurodevelopment.
History Annie is a native Nashvillian who started her research career at Vanderbilt University, where she earned her Bachelors of Arts in Neuroscience and Theatre. During her time as an undergraduate, she worked in the Center for Human Genetics, where she investigated the role of heavy-metal processing in autism by screening patients and families for polymorphisms in heavy-metal transport genes. Additionally, she worked on projects investigating the role of glutathione during oxidative injury through site-directed mutagenesis of the gamma-glutamylcysteine gene, and performed large-scale screening of patient populations for polymorphisms in urea cycle genes.
She joined the UIUC Neuroscience Program and Medical Scholars program in 2009, and is working toward her M.D. and Ph.D. Upon completion of her degrees in 2018, she plans to pursue a career as a physician-scientist specializing in Pediatric Neurology, and she intends to continue her research in developmental neuroscience.
Current Project Annie is investigating the role of newly discovered neurodevelopmental gene, Auts2, in abnormal neurodevelopment. Mutations in the Auts2 locus cause autism, epilepsy, and mental retardation in humans, but little is known about the function of this gene or its role during neurodevelopment. She is analyzing the role of AUTS2 in differentiation of neurons in culture to ask what the function of AUTS2 is in normal neurodevelopment. As well, Annie utilizes a unique translocation mutant called 16Gso which displays epilepsy and autistic-like behaviors resulting from a reduction in AUTS2 expression to how AUTS2 disruption can lead to abnormal neurodevelopment.
Annie also works on the Simons Project, investigating the genetic pathways underlying evolutionarily conserved social behaviors, such as aggression and maternal caring, through RNA-sequencing and protein expression analysis of mouse brain after acute social stimuli.
Past Projects Annie began her work in the Stubbs lab studying the role of Pax6 alternative transcripts in development of the eye through histological analysis of the 1Gso translocation mutant.
Elso, C; Lu, X; Weisner, PA; Thompson, HL; Skinner, A; Carver, E; Stubbs, L (2013). A reciprocal translocation dissects roles of Pax6 alternative promoters and upstream regulatory elements in the development of pancreas, brain, and eye. Genesis, 51:9, 630-646.
Le, TM; Magarik, JA; Cunningham, GR, Weisner, A et al (2008). gamma-Glutamylcysteine co-migrates at the peak typically assigned to L-aspartate in ion-exchange chromatography-based amino acid analysis. Molecular Genetics and Metabolism, 93:3, 255-255.
Outside the Lab Annie is the Grants Director of Champaign-Urbana’s only free charitable clinic, Avicenna Community Health Center, and manages a team of 12 graduate, medical, undergraduate student, and faculty volunteers to secure funding for the clinic. She also has twice organized the Illinois Summer Neuroscience Institute, a weeklong research program for undergraduates from underrepresented groups who are interested in pursuing a career in Neuroscience research. She has taught the Medical College’s Cell and Tissue Biology laboratory course since Fall of 2012, and last year ranked in the top 10% of all University instructors, as rated by her students.
In her free time, Annie is an avid powerlifter, cyclist, and climber. She loves to garden and to cook, and teaches healthy cooking classes at the Common Ground Food Co-op. She also volunteers with several organizations for special needs children in town, including taking students on the Swann School’s nature walks, volunteering for the Challenger softball league, and teaching at the CIRCLE Academy.