Principal Investigator. CV
Jim received his undergraduate degree in Biology and English Literature (Honors) from Binghamton University in upstate New York. He carried out his graduate work with Dr. Richard Myers in the Department of Genetics at Stanford University, where he contributed to the Human Genome Project and characterized the evolutionary history of protocadherin cluster genes in vertebrates. He received his Ph.D. in 2004. He did his postdoctoral work in Dr. Edward Rubin's lab at the Lawrence Berkeley National Laboratory and the U.S. Department of Energy Joint Genome Institute. At Berkeley, Jim developed methods to sequence and analyze ancient genomic DNA, providing the first insight into the Neanderthal genome. He also pioneered the discovery and analysis of uniquely human genetic changes that altered developmental gene regulation during human evolution. Jim joined the Yale Genetics faculty in 2007. He is currently Professor of Genetics, with secondary appointments in Ecology and Evolutionary Biology and Neuroscience. He is also a member of the Kavli Institute for Neuroscience, the Yale Stem Cell Center, and Executive Director for Genome Sciences at the Yale Center for Genome Analysis. Jim was also named a NOMIS Foundation researcher in 2020.
Lab Manager
María recently joined the lab after graduating as a Biologist in 2017 from the National Autonomous University of Mexico (UNAM), where she focused her research in Molecular Genetics and Biochemistry. In the Noonan Lab, María is interested in understanding how changes in gene regulation can lead to autism spectrum disorder.
Associate Research Scientist
Martina is a physician scientist with a particular interest in autism and other neuropsychiatric disorders.
During her medical training (Marburg University), she developed a mouse model of REM sleep behavior disorder, a precursor of Parkinson’s disease, at Harvard University. Fascinated by the possibility to study neuropsychiatric disorders at an early stage, she switched her focus to developmental neuroscience.
Martina’s goal is to map the spatiotemporal expression and determine the function of autism risk genes (CHD8, CHD2, POGZ) during critical periods of cortical development using cellular and animal models.
Martina is currently supported by the German Research Foundation (DFG). She will start her residency in Psychiatry at Yale this fall.
Associate Research Scientist
Severin is interested in species-specific adaptations with a focus on gene regulation as its cause. Studying gene regulatory innovation in human brain development, he uses a Massively Parallel Reporter Assay (MPRA) to query the effects of human-specific substitutions on regulatory function in human neural stem cells, the main proliferative cell type of the developing brain. He integrates the results with large scale genomic data that he analyzes with both traditional statistics and machine learning approaches.
Severin did his undergraduate studies at the University of Heidelberg, Germany, and Uppsala University, Sweden, and earned a PhD in evolutionary genetics from Uppsala University in 2015. He joined the lab in 2016 and is supported by a fellowship from the German Research Council (DFG).
Personal website: http://severinevo.github.io/
Graduate student
Kristi joined the Noonan Lab in 2016. She is leveraging single-cell transcriptome analysis to study at high cellular and anatomical resolution how disruptions to specific genes during brain development play a role in autism spectrum disorder. As a part of this work, she has developed new approaches to effectively visualize and interpret single-cell expression data, helping to provide insight into complex biological systems across various disciplines and applications.
Kristi completed her undergraduate studies at the University of California, Berkeley where she earned a degree in molecular and cell biology and minored in education. She is interested in data visualization, teaching biology and bioinformatics, and video games.
Kristi is supported by an NSF Graduate Research Fellowship.
Graduate Student
Before entering the Noonan lab in 2021, Matheo studied genetics and computational math at Arizona State University. Through the development and usage of state-of-the-art computational techniques, he aims to identify how sequence changes in the genome lead to evolutionary innovation and how subsequent gene regulatory changes in the human lineage have led to phenotypic novelty.
Matheo is supported by an NSF Graduate Research Fellowship.
Assistant Professor of Psychiatry, Columbia University
Rebecca is a physician-scientist with a special interest in autism spectrum disorders. She conducted work on the mechanistic basis of pediatric acute promelocytic leukemia (APL) and infection-induced preterm labor prior to joining the Medical Scientist Training Program at the Albert Einstein College of Medicine. There she completed her thesis with Dr. David Fidock examining the molecular genetic mechanisms of malaria var gene expression and pathogenesis. The development of molecular and genetic tools to elucidate the mechanisms of pediatric disease pathology was highly rewarding, and these experiences motivated her current research goals. On the clinical wards, she found the psychiatric care of children and adolescents to be very gratifying, particularly the impact of developmental disorders on physical and mental health. This contributed to her desire to better understand genetic factors contributing to ASD, and resulted in a review of the genetics of ASD with Isabelle Rapin, M.D., a pioneering figure in pediatric neurology. She entered the Solnit Integrated Adult and Child Psychiatry Research Training Program at the Yale University Child Study Center to simultaneously complete clinical training in adult and child psychiatry while also engaged in academic research. Rebecca is now Assistant Professor of Psychiatry at Columbia University and continues to collaborate with the Noonan lab. Rebecca is also a SFARI Bridge to Independence Fellow.
Postdoc
Marybeth is interested in the genetic underpinnings of brain evolution and development. Her interest in this topic was sparked as an undergraduate at Mount Holyoke College, where she studied biology with a focus on organismal evolution. She then joined the lab of Dr. Rahul Kanadia at the University of Connecticut to study the minor spliceosome, a highly conserved RNA splicing complex linked to multiple neurodevelopmental disorders. In her thesis work, Marybeth established the role of the minor spliceosome in regulating cortical development using a mouse model. As a post-doc in the Noonan lab, her research focuses on parsing the genetics of cortical expansion in human evolution. She is developing humanized mouse models to study the impact of regulatory elements with uniquely human activity on gene expression and cortical development. Using these mouse models, Marybeth aims to link human-specific genetic changes to uniquely human features of cortical development.
Graduate student
Mark is a Ph.D. student in the Department of Genetics who joined the lab in 2018 after graduating from the University of South Florida in 2017. He is interested in human-specific regulatory divergence in the developing brain, and his project addresses the genetic and regulatory pathways that have been selected for through evolution that underlie the human expansion of the neocortex.
Mark is supported by an NSF Graduate Research Fellowship.
Undergraduate Student
Britt is an undergraduate studying Molecular Biophysics and Biochemistry who joined the lab in early 2018. She is interested in the genetic basis of autism. Her project involves using a mouse model to map the expression of autism risk gene CHD8 throughout cortical development. Britt will start her PhD studies at Columbia this fall.
Graduate student
Emily is interested in the genetics of species differences. After studying biology at Haverford College with a focus on molecular biology and evolution, Emily joined the lab of Dr. Gustavo Aguirre at the University of Pennsylvania where she studied canine genetic diversity and the molecular pathogenesis of inherited retinal diseases. As a graduate student in the Noonan lab, Emily’s research focuses on the genetics of human biological uniqueness. She developed “humanized” mouse models using CRISPR-mediated interspecies sequence conversion to study regulatory elements that have gained a function on the human lineage. Using humanized mouse models, Emily is connecting human-specific sequence composition to uniquely human aspects of embryonic development.
Emily defended her thesis in 2019 and is now a postdoc in Elaine Ostrander’s lab at NIH.
Graduate student
Acadia studied genetics and molecular biology at Northwestern University before joining the Noonan lab in 2016. She is interested in how changes in gene regulation can facilitate the evolution of species-specific features. She works with a humanized mouse model in which a region of the mouse genome has been replaced with its human counterpart, an enhancer active during brain development. Using this model, she aims to characterize aspects of embryonic development that are affected by humanization.
Acadia is supported by an NSF Graduate Research Fellowship.
Graduate Student
Atreyo studied Physics and Biology (Genetics) at the University of Chicago before joining the Noonan lab in 2021. He is interested in finding regulatory regions which govern the function of genes essential in brain development, and is also working to extend the lab’s CRISPR-based screens from 2D cell cultures to 3D organoids. Aside from the time spent in lab, Atreyo is an avid chess and tennis player and loves taking short jogs or walks to explore New Haven’s parks and apizza hubs.
Lab Lab
Sophie is a Labrador Retriever/Vizsla mix (mostly Vizsla) who visits the Noonan Lab when the team needs a break from their hard work (or when Jim’s wife Laura is out of town). She was born in Houston, TX and adopted as a rescue dog in 2012. When she is not at the lab, she is helping kids with anxiety issues, learning differences and developmental disorders. And chasing squirrels.
Graduate student
Evan’s interest in the brain and development goes back to his first college seminar course “Your Brain: A Work in Progress”. He studied biochemistry and molecular biology as an undergraduate at Allegheny College and later became involved in the genetics of neurodevelopment. His post-baccalaureate research contributed to the identification of genes associated with autism spectrum disorder in the lab of Gerard Schellenberg at the University of Pennsylvania. In the Noonan lab his research focuses on the characterization of human embryonic brain enhancers, which are regions of the genome that control when and where a gene is expressed. He utilizes a high-throughput genome editing approach to delete or ‘knock-out’ thousands of enhancer regions of the genome in parallel. The aim of his research is to identify a subset of critical enhancers that contribute to cortical development and evolution by modifying neural stem cell proliferation.
Evan defended his thesis in 2019 and is now a postdoc in Neville Sanjana’s lab at NYU & the New York Genome Center.
Alumni 2007-2018
Postdocs and Associate Research Scientists
Justin Cotney, Ph.D. 2009-2015. K99 Pathway to Independence Award. Current Position: Associate Professor, Department of Genetics and Genome Sciences, UConn Health
Jun Yin, Ph.D. 2012-2015. Current Position: Director of Bioinformatics, Sanford Burnham Prebys Medical Discovery Institute Cancer Center
Deena Emera, Ph.D. 2012-2017. NIH NRSA Postdoctoral Fellowship. Current Position: Senior Scientist, Center for Reproductive Longevity and Equality, Buck Institute
Wei Niu, Ph.D. 2013-2016. Current Position: Research Scientist, University of Michigan
Sunghee Oh, Ph.D. 2009-2011. Current Position: Faculty, Department of Computer Science and Statistics, Jeju National University, Korea
Graduate Students
Laura DeMare, PhD. 2008-2013. Thesis title: “A cohesin-mediated chromatin interactome during embryonic limb development.” Awards and Honors: Carolyn Slayman Prize for Outstanding Ph.D. Thesis in Genetics. Current Position: Product Manager, 10x Genomics
Jing Leng, Ph.D. 2009-2014. Thesis title: “Studying the evolution of gene regulation using next-generation sequencing: computational methods and data integration.” Current Position: Bioinformatics Scientist, Illumina Inc.
Steven K. Reilly, Ph.D. 2010-2015. Thesis title: “Evolutionary changes in promoter and enhancer activity during human corticogenesis.” Awards and Honors: NSF Graduate Research Fellowship; Carolyn Slayman Prize for Outstanding Ph.D. Thesis in Genetics. Current Position: Assistant Professor, Department of Genetics, Yale School of Medicine (incoming September 2021)
Richard Sarro, Ph.D. 2012-2017. Thesis title: “Topologically directed disruption of a developmental enhancer through genome engineering.” Current Position: Senior Consultant, Simon-Kucher & Partners
Jake Gockley, Ph.D. 2013-2017. Thesis title: “Investigations into the genetic foundations of sex bias in Autism Spectrum Disorders and evolution of non-coding regulatory elements.” Current Position: Research Scientist, Sage Bionetworks
Postgraduate and Undergraduate Students
Sarah Abdallah, BS, MD. Honors thesis student, 2013-2014. Thesis title: “Identifying target genes of the autism-implicated transcription factor NFIA.” Current Position: 1st Year Resident, Albert J. Solnit Integrated Adult and Child & Adolescent Psychiatry Program, Yale Child Study Center (Tom Fernandez, Research Mentor)