Stephanie Bouley, PhD

Categories: Training Program Attendee
Institution: Dartmouth College
Enrolled: 2022
Enrolled: 2022
Dartmouth College
Dr. Stephanie J. Bouley, Ph.D., is a Research Fellow at Massachusetts General Hospital under the mentorship of Dr. James Walker. She received her Ph.D. in Experimental and Molecular Medicine from Dartmouth College in Hanover, NH. Dr. Bouley is focused on identifying novel therapies to treat neurofibromatosis type 1. Stephanie is originally from Rhode Island where she currently resides with her mom and her dog Daisy. Dr. Bouley is the recipient of a Dorothy and Spiro Latsis Fellowship in Neurofibromatosis Research from Boston Children’s Hospital and is a former CTF Young Investigator awardee. She is also a former Fulbright recipient.
In her free time, Stephanie likes to play role-playing games like Dungeons & Dragons and make dice.

Perturbation of signaling networks to identify novel therapeutic targets in NF1

To address the necessity for new therapeutic targets, we have taken a multipronged approach to identify molecular signatures associated with NF1 loss. Using a panel of pairs of NF1-deficient (NF1-/-) and normal type (NF1-/+) isogenic patient-derived or CRISPR-edited NF1-deficient SCs, we conducted profiling of the activated kinome, total and phosphoproteome, and transcriptome signatures. We have identified several kinases with altered activity, proteins with altered phosphorylation patterns, and genes with altered transcription levels. We performed comparison analyses between two isogenic sets of patient-derived SCs to identify overlapping hits, and in doing so, we were able to refine our list of potential targets. Finally, by combining our data sets we used network analysis to identify pathways with increased activity based on changes between NF1-/- and NF1-/+ SC lines. We hypothesize that further interrogation and perturbation of signaling networks identified as altered between NF1-/- and NF1-/+ cells will reveal novel therapeutic targets for treating NF1-deficient tumors.

Stephanie Bouley, PhD

Enrolled: 2022 Dartmouth College Dr. Stephanie J. Bouley, Ph.D., is...

Rose De Guzman, PhD

Categories: Training Program Attendee
Enrolled: 2021
Institution: University at Albany, NY
Enrolled: 2021
University at Albany, NY

Rose M. De Guzman is a postdoctoral fellow in Dr. Andrea Edlow’s Lab at Massachusetts General Hospital. She received her BS in Nutritional Biochemistry at UC Davis, CA and earned her PhD in Behavioral Neuroscience at University at Albany, NY. Her scientific passions include nutrition, neuroscience, sex differences, pregnancy/postpartum, and child development.

Her PhD dissertation investigated how sexually dimorphic brain regions involved in maternal and stress circuitries change during the postpartum period. Her postdoctoral research studies the impact of maternal immune activation in pregnancy, including maternal obesity and COVID-19 infection, on fetal brain development and behavior. Her long-term goal is to develop personalized therapeutics, guided by patient-level biology.

Outside of lab, she is the founder of Women in Neuroscience and is involved in organizations that empower students, especially those with similar background of being low SES, first-gen college student, and an immigrant. She believes a diverse scientific community broadens scientific innovation. She also enjoys hiking, mountain biking, cooking, and concert/fashion photography.

Placental macrophages and umbilical cord blood mononuclear cells as a proxy cell type of microglia and a model for the impact of maternal COVID-19 on brain microglial activation

In collaboration with Dr. Andrea Edlow and Dr. Roy H. Perlis, we are using personalized microglial-like cellular models derived from cord blood monocytes to investigate the potential impact of maternal SARS-CoV- 2 exposure on fetal and offspring neurodevelopment. This work dovetails nicely with Dr. Edlow’s R01, examining fetal placental macrophages (Hofbauer cells) as a proxy cell type for fetal brain microglia in the setting of maternal obesity. Both projects are based on the premise that maternal inflammation may have deleterious effects on fetal brain macrophages (microglia). Microglia play a key role in modulating synaptic pruning, neurogenesis, phagocytosis of apoptotic cells, and regulation of synaptic plasticity. They can also be critical mediators of neurodevelopmental morbidity in maternal immune activation. To date, there is no biomarker or model for in utero microglial priming and function that might aid in identifying the neonates and children most vulnerable to neurodevelopmental morbidity, given that fetal and infant microglia remain inaccessible.

We will use umbilical cord blood mononuclear cells to reprogram induced microglial cells and to model phagocytic activity of these cells. Dr. Perlis and his laboratory developed and validated an approach for the transdifferentiation of human microglia-like cells from peripheral blood mononuclear cells (PBMCs) and assaying them with isolated synapses (synaptosomes) derived from neural cultures differentiated from induced pluripotent stem cells (iPSCs). For this project, however, the cord blood-based method is more rapid and scalable compared to the iPSC microglia method. This proposed method also enables investigation of epigenetic effects otherwise lost in iPSC generation, in addition to recapitulating morphology, transcriptome, and function of microglia.

Rose De Guzman, PhD

University at Albany, NY

Aeron Small, MD

Categories: Training Program Attendee
Enrolled: 2022
Institution: University of Pennsylvania
Enrolled: 2022
University of Pennsylvania

Aeron Small is a third-year cardiology fellow at the Brigham and Women’s Hospital. He is originally from Chicago, completed medical school and obtained a master’s degree in translational research at the University of Pennsylvania, followed by residency in internal medicine at Yale. For the P&GM T32 fellowship, Aeron is completing a post-doctoral fellowship in Dr. Pradeep Natarajan’s group with a focus on the genetics of valvular heart disease.

In his free time, Aeron enjoys playing jazz guitar and spending time at home with his wife, son, and two cats.

Genomics, Valvular heart disease, Echocardiography

I am broadly interested in the pathobiology of valvular heart disease. During the T32 program, I hope to leverage my interests in genomics and cardiovascular imaging to better elucidate the functional mechanisms underlying calcific aortic valve disease.

Aeron Small, MD

University of Pennsylvania

Justin Tubbs, PhD

Categories: Training Program Attendee
Enrolled: 2022
Institution: The University of Hong Kong
Enrolled: 2022
The University of Hong Kong

Justin Tubbs studied biology and psychology at Virginia Commonwealth University, where my interest in psychiatric genetics was sparked through my work with Drs. Jeanne Savage, Amy Adkins, and Danielle Dick. Afterwards, he completed a post-baccalaureate fellowship at the NCCIH, where he contributed to studies examining the psychological and physiological mechanisms of pain and affective touch. Justin’s PhD studies at The University of Hong Kong with Prof. Pak Sham have focused on developing and applying methods for estimating genetic nurture, as well as identifying genetic risk factors for complex traits including depression and psychosis. Justin is looking forward to the next stage of his journey as a T32 fellow in Dr. Jordan Smoller’s lab.

In his free time, he enjoys traveling, cooking, and music.

Leveraging genomics and big health data to advance precision psychiatry

My proposed research will contribute towards the monumental challenge of translating findings from psychiatric genetics and epidemiology into clinical practice. Building on foundational results from basic research and existing translational attempts, I aim to construct clinically useful predictive models for psychiatric disorders. Specifically, I plan to leverage advances in statistics and machine learning to combine the rich data contained in increasingly large biobanks, including electronic health records, genomics, and neuroimaging. Ideally, these comprehensive models could be employed in the clinic to help classify patients into meaningful subgroups based on treatment-response, symptom presentation, or illness course. Secondarily, these models may provide insights into the underlying biopsychosocial risk factors of common mental health disorders. Ultimately, such models could reduce the global burden of psychiatric disease by improving prevention, intervention, and treatment strategies.

Justin Tubbs, PhD

The University of Hong Kong