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Rebecca Ahrens-Nicklas, MD, PhD
PRINCIPLE INVESTIGATOR
Dr. Rebecca Ahrens-Nicklas is an Assistant Professor of Pediatrics in the Division of Human Genetics and Metabolism at The Children’s Hospital of Philadelphia (CHOP) and the University of Pennsylvania. After completing MD/PhD training in Physiology and Biophysics, she pursued clinical training in Pediatrics, Clinical Genetics, and Metabolism. She cares for children with rare diseases, with a special interest in neurometabolic disorders. Her research laboratory focuses both on gene discovery and elucidating the pathologic mechanisms underlying rare diseases to guide therapy development. She also partners with advocacy groups to conduct natural history and biomarker studies to promote clinical trial readiness for these rare conditions.
Meet The Team
Janaki Chezhian, MS
LAB MANAGER
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Janaki wears two hats in the Ahrens-Nicklas Lab at CHOP, she's a Research Tech and Lab Manager. Janaki has a history of working with animal models to understand disease correlation and has a keen interest in studying the genetics of neurometabolic diseases. Janaki is the glue that holds the lab together, making sure everything runs smoothly like clockwork. She's the friendly face and helping hand behind the scenes!
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Prior to CHOP- Janaki graduated this past year with a Master's in Genetics, Genomics and Bioinformatics from State University of New York, Buffalo. Her previous research, published in Diabetes Care (DOI: 10.2337/db23-0430), focused on dissecting the roles of both nuclear and mitochondrial genomes within a chimeric mouse model for Type-1 diabetes.
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Outside lab, Janaki likes reading, travelling and exploring new cuisines.
Paige McVeigh
ANIMAL SPECIALIST
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Paige has been at CHOP for several years within a few departments. Paige has an extensive knowledge of husbandry and veterinary medicine of various species from mice to non-human primates. She spends most of her time in the facility caring for our mice, overseeing and maintaining the colony.
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Paige has a background ranging from Hematology to Gene Therapy.
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In her spare time, Paige enjoys camping and hiking with her little family.
Livia Sertori Finoti, PhD
RESEARCH ASSOCIATE I
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Livia is a Research Associate with research interest focuses on cell and molecular biology, particularly associated induced pluripotent stem cell and CRISPR/Cas9 mediated genome editing applied to rare diseases.
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Livia has major in Dentistry (2009) by the Sao Paulo State University (UNESP), Master’s Degree (MSc, 2012) and Doctorate (PhD, 2015) degree in Periodontics with part of the degree held at UPenn Dental as part of the “Sandwich - PDSE Exchange”). Livia started at CHOP as a Post-Doc Fellow in 2016 transitioning to a full-time position as Research Specialist A, a Research Associate at the CHOP Center of Applied Genomics, and transitioned to our lab in 2022
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Outside the lab Livia likes to read books, and hang out with her family, Keith, Atticus and baby Benjamin.
Jeet Singh, PhD
RESEARCH ASSOCIATE I
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Jeet is currently focused on understanding rare genetic diseases in children causing progressive neurodegeneration and intellectual disability. He currently works on Voltage Sensitive Dye Imaging (VSDI) on multiple mouse models in the lab to investigate network dynamic changes.
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Dr. Singh took his postdoctoral training at University of Bergen, Norway (2018-2021), working on role of synaptic and cellular mechanisms within specific microcircuits in the rat retina. Dr Singh finished his PhD from the Leibniz Institute for Neurobiology, Magdeburg, Germany where he studied the role of the extracellular matrix and its receptors in synaptic plasticity and learning. Prior to PhD he worked as Project Assistant at National Brain Research Centre, Delhi, India on Learning and Memory Project (2010-2011).
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Jeet likes spending time with his family, going hiking, and chatting with friends.
POSTDOCTORAL
Tomoki Nomakuchi MD, PhD
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Tomoki is a research and clinical fellow who graduated from the Combined Pediatrics/Medical Genetics Residency Program at CHOP in 2022. His research interests include discovering novel gene-disease relationships, and contribution of rare genetic variants to common conditions such as autism. He utilizes stem cell models as well as datasets from biobanks with genomic data to investigate these questions. Tomoki is also an attending physician at CHOP and spends some of his time taking care of children with rare genetic disorders.
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Tomoki graduated from Hofstra University with a B.S. in Biology and Biochemistry, before completing MD/PhD training at Stony Brook University. He completed his PhD thesis work with Dr. Adrian Krainer at Cold Spring Harbor Laboratory, where he investigated the novel use of antisense oligonucleotide technology for treatment of rare genetic disorders.
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Tomoki’s Hobbies include his Cats (Bibi, 7yrs, female, brown tabby, 15lbs and Mugwort, 4yrs, female, tortoiseshell, 8lbs ), Running, and Brazilian jiu jitsu
Megan Gautier, PhD
POSTDOCTORAL
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Megan is a postdoctoral research fellow in the Neurodevelopmental Disabilities (NDD) training program. She is interested in the molecular mechanisms of neurodegeneration, with a particular focus on progressive pediatric disorders. In the Ahrens-Nicklas lab, Megan is assessing the efficacy of novel gene therapies in several mouse models of phenylketonuria (PKU).
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Megan received a B.A. in Biochemistry from New College of Florida. She earned her M.S. and Ph.D. from the NYU School of Medicine, studying Pathobiology and Neuroscience, respectively. Her thesis research was conducted in the lab of Dr. Stephen Ginsberg at the Nathan Kline Institute for Psychiatric Research, studying endosomal defects and cholinergic neuron degeneration in a mouse model of Down syndrome.
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Outside of lab, Megan enjoys exploring the city with her friends and playing video games with her cats. An avid metalhead, she spends far too much time and money going to shows and festivals.
Vi Pham
GRADUATE STUDENT GTV
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Vi is interested in understanding the disease pathology of and developing new gene therapy approaches for a rare lysosomal storage disorder, Multiple Sulfatase Deficiency (MSD). Vi's thesis project focuses on developing ex vivo gene therapy with hematopoietic stem cell transplant for MSD, and she has worked closely with patient and family foundations to support this work.
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Prior to Penn, Vi graduated from Hamilton College with a B.A. in Neuroscience and minors in Art and Linguistics (so liberal arts of her).
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Outside of the lab, Vi loves all things food and hanging out with her friends.
Brianna Disanza
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Brianna is a Neuroscience PhD Student under NGG at the University of Pennsylvania Perelman School of Medicine. Since joining the Ahrens-Nicklas Lab, she studies rare pediatric-onset genes in neurodegenerative disorders to understand the mechanisms underlying these newly identified pathways in adult-onset conditions. Her main project is investigating the role of Branched Chain Amino Acid Transaminase-1 (BCAT1) as a novel candidate gene and therapeutic target in pediatric neurodegeneration by utilizing a combinatorial approach of iPSC gene editing, animal models, and multi-omics to assess the impact of BCAA metabolic dysfunction on neurodevelopment.
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Brianna received a B.A. in Human Biology with a concentration in Neuroscience from the University of Virginia in 2017. She then accepted a fellowship at the National Institutes of Health (NIH/NINDS) under Dr. Avindra Nath researching Human Endogenous Retrovirus K (HERV-K) HML-2 in HIV-1, Amyotrophic Lateral Sclerosis (ALS), and neurodevelopmental tumors. During that time, Brianna distinguished the genetic profile of HERV-K in atypical teratoid/rhabdoid tumors and studied the function of ERV proteins in ALS at various stages of iPSC-iMN differentiation to establish a mechanism of neurotoxicity.
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In her free time, Brianna enjoys gardening, discovering new cooking recipes, and spending time at her family’s farm.
GRADUATE STUDENT NGG
Eden Teferedegn, PhD
POSTDOCTORAL
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Eden is a Postdoctoral Fellow in the Human Genetics Division of the Department of Pediatrics. In the Ahrens-Nicklas Lab, she focuses on profiling miRNA in both health and disease. Her primary goal is to propose miRNA as a therapeutic option for neurodegenerative disorders. Eden employs a combined approach, utilizing both computational and wet lab methods, to identify candidate miRNA that target genes implicated in neurodegenerative diseases
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Eden earned her Bachelor's and master’s degrees in biology and medical Physiology from Jimma University. She later obtained her PhD from Ege University, during which she conducted research on prion genetics both during her doctoral program and thereafter
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Eden enjoys watching movies, traveling, and trying new food.
Amanda Kuhs
CONSULTANT
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As our previous lab manager and organizational powerhouse, Amanda consults for the lab, managing orders, budgets, and keeping the wheels of the lab greased virtually. She previously performed animal husbandry for the lab, working on multiple projects.
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Amanda enjoys spending time with her kids at her sunny home in California.
Maggie Cassidy
GRADUATE STUDENT G&E
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Maggie is a PhD Student in the Cell and Molecular Biology PhD Program (G&E) at the UPenn Perelman School of Medicine. She is co-mentored between the Ahrens-Nicklas and Cristancho Labs at CHOP. She is broadly interested in the effect of metabolic dysfunction on epigenetics, in the context of both injury (prenatal hypoxia) and inborn errors of metabolism (including Multiple Sulfatase Disorder, or MSD
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Maggie graduated from Vanderbilt University in 2020 with a B.A. in Neuroscience and went on to work as a postbaccalaureate fellow at the National Institutes of Health.
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In her free time, Maggie enjoys trivia night, walking along the Schuylkill, and searching for the best cheesesteak in Philadelphia.
Devin Burris
GRADUATE STUDENT GTV
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Devin is a PhD Student in the Gene Therapy and Vaccines Program under Cell and Molecular Biology at the UPenn Perelman School of Medicine. She is focusing on CLN3 Disease, a Juvenile Dementia and Lysosomal Storage Disease. Devin aims to utilize therapeutic approaches like gene therapy and gene editing informed by circuit and molecular-level perturbations.
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Devin graduated from the University of Central Florida with a B.S. in Biomedical Sciences. Devin previously completed research projects on “Zombie Ant Fungus” Ophiocordyceps genetics at UCF with Dr. Charissa de Bekker and characterizing mutations in DNMT3A associated with Tatton Brown Rahman Syndrome and Dwarfism at WASHU in Saint Louis Missouri with Dr. Harrison Gabel.
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Outside the lab Devin likes to oil paint, explore new music, and make her friends hang out with her
Stephanie Blackwood
GRADUATE STUDENT GTV
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Stephanie is a PhD student in Gene Therapy and Vaccines under the Cell and Molecular Biology Program at the UPenn Perelman School of Medicine. She is interested in studying Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD), a rare inherited metabolic disorder. Her current research focuses on understanding its pathology and developing an MCADD in vivo gene editing therapy.
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Stephanie graduated from Carnegie Mellon University with a B.S in Biological Sciences and Psychology and a minor in biomedical engineering. She completed an honors thesis project studying the gene regulatory networks involved in starfish larval development. She then spent two years at the Broad Institute as a research associate, using zebrafish as a model to investigate novel methods of treating infectious disease.
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Stephanie’s hobbies include reading books, spending time with her cats, eating sweet treats, and trying new restaurants with her friends.
Sabrina Santos
POST-BACC STUDENT
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Sabrina is a postbaccalaureate student in the PennPREP program. She is interested in becoming a physician-scientist. She is focusing on aiding in projects using iPSC cell models to establish genetic relationships with neurodevelopmental disorder phenotypes.
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Sabrina just graduated with a degree in Cellular Molecular Biology from the University of Puerto Rico. There she performed research focused on behavioral neuroscience delving into her own project which characterized the therapeutic role of endocannabinoid system activation in neuroinflammatory induced anxiety-like and depressive-like behaviors in rats. Sabrina has had the opportunity of attending diverse summer programs directed to the neuroscientific field and now she has joined our lab to research genetic markers associated with neurodevelopmental disorder phenotypes.
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In her free time, Sabrina enjoys taking dance, acting and improv classes. She loves going to the beach, traveling, exercising and spending time with family. Sabrina is also a foodie and is always down for coffee.
Fun fact: Sabrina learned how to ride a unicycle in circus camp.
Sangeetha Bhuyan
UNDERGRAD STUDENT
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Sangeetha Bhuyan is a second-year undergraduate student at UPenn studying Biology on the Pre-med track. She has worked with the Ahrens-Nicklas lab since September 2022. Currently, she is working on EEG implant surgeries for various projects.
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Outside of school and the lab, Sangeetha is on Penn's premier female South Asian fusion dance team, PENNaach. She also enjoys volunteering with the Netter Center Educational Pipeline program, singing, and spending time with her family and friends.
Corey He
UNDERGRAD STUDENT
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Corey is a second-year undergraduate at the University of Pennsylvania studying biology and economics with a concentration in healthcare management. He mainly works on projects related to mouse brain histology, IF, and cloning.
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Outside of school and the lab, he enjoys going to the gym, playing the piano, and getting a good night's sleep.
Fun fact: he's a self taught magician...
Lab Alumni
Aaron Hall – Technician
Owen Kane - Technician
Jing Xu, Ph.D.- Postdoctoral Fellow
Amanda Kuhs - Lab Manager
Youseff Jakher, M.S.- CRISSP Scholar / Master’s student
Sophie Siemsgluess - CRISSP Scholar
Richard Chung - Undergraduate student
Emily Tsai - CRISSP Scholar
Supta Das - CRISSP Scholar
Nate Philip - Summer undergraduate student
Saul Cortez-Alvarado - Master’s student
Laura Ohl, Ph.D. - Ph.D. student / Post Doctoral Researcher
Divya Nair, M.D. MPH - Postdoctoral Researcher
Tegan Thurston - PREP Scholar / Post-Bacc
Grace Fagan - 2024 CRISSP Scholar