Lia BoyleLia is a medical and graduate student at Columbia University Vagelos College of Physicians & Surgeons. Her dissertation work is focused on characterizing KIF1A Associated Neurological Disorder using clinical data, mouse models, and patient-derived cellular disease models.
Anshuman SewdaDr. Sewda is an Associate Research Scientist in the Department of Pediatrics (Division of Molecular Genetics). He studies rare and common inherited and de novo mutations to identify genes and therapeutic targets associated with various congenital anomalies, including congenital heart disease, congenital diaphragmatic hernia, craniosynostosis, and neurodevelopmental disorders.
Carrie WelchCarrie is an Assistant Professor of Medical Science in Pediatrics, Division of Molecular Medicine, at Columbia University Medical Center. Her work focuses on the human genetics of pulmonary hypertension with an emphasis on pediatric-onset disease, as well as a humanized mouse model of cardiomyopathy.
Jennifer BainDr. Bain is an assistant professor of neurology at CUIMC, in the Division of Child Neurology. She focuses on neurological outcomes of children undergoing extracorporeal membrane oxygenation (ECMO), as well as neurodevelopmental disorders such as autism and genetic causes of neurodevelopmental disorders, with a special interest in HNRNPH2-related disorders.
Alexa GeltzeilerAlexa a certified genetic counselor in the Department of Pediatrics at CUIMC. She is a graduate of the Johns Hopkins/NHGRI genetic counseling training program. In addition to seeing patients clinically, her research focuses on the diagnosis and natural history of rare genetic neurodevelopmental disorders.
Amanda J. McPartlandAmanda is a research technician in the Chung Lab. She has a strong research focus in genetic and molecular biology. She assists in the processing of samples from several studies such as the DHREAMS and CARE studies, as well as the sequencing of patient genomes and maintaining primary cell lines from human derived samples. Her research interests center around rare genetic disease as well as possible therapeutics through gene therapy.
Alban C. ZieglerAlban was trained as medical geneticist in France with a special interest in birth defect, hereditary hearing loss, autism spectrum disorder and exome sequencing. His research experience focused on monogenic diseases but also include oligogenic inheritance. He is a research associate in the Chung lab. He works on characterizing the natural history of several rare genetic disorders.
Megan GriffithsDr. Griffiths is a Clinical Instructor in the Department of Pediatrics in the Division of Pediatric Cardiology. She is board certified in pediatrics/pediatric cardiology and is currently doing advanced training in pulmonary hypertension. Her research is in proteomic/metabolomic approaches to understanding pulmonary vascular disease including developing new phenotypes of pulmonary hypertension based on molecular markers. She has been supported as a Pediatric Scientist Development Program Fellow (K12) through the Association of Medical School Pediatric Department Chairs and NICHD.
Rebecca HernanRebecca is a board certified genetic counselor and research coordinator. She works primarily with rare pediatric diseases and birth defects and is the coordinator for the DHREAMS study (Diaphragmatic Hernia Research & Exploration; Advancing Molecular Science). She is a member of the National Society of Genetic Counselors and is a course director for the Columbia University Genetic Counseling Graduate Program.
Vaidehi JabanputraDr. Jabanputra is the Chief Diagnostics Officer at the New York Genome Center and holds an academic appointment as Associate Professor of Pathology & Cell Biology at Columbia University Irving Medical Center. She is also the Medical Director of the Columbia University Precision Genomics Laboratory. She holds Board Qualifications from the American Board of Medical Genetics in Clinical Cytogenetics and Clinical Molecular Genetics and is a fellow of the American Board of Medical Genetics and Genomes. She has more than 15 years of experience in molecular diagnostics
Michael V. ZuccaroMichael is a Postdoctoral Research Scientist. His primary research focus is KIF1A Associated Neurological Disorder (KAND), a neurodegenerative disorder caused by changes in the KIF1A gene. He utilizes genetic animal models and patient-derived cell systems to study the molecular pathogenesis of KAND.
Archana KumarArchana is a graduate student pursuing a Master of Arts in Biotechnology, and am working with the Guardian Study team. I am completing my Masters Thesis on current research in therapies for Duchenne muscular dystrophy.
Vidhu ThakerDr. Thaker is a Pediatric Endocrinologist with research focus on genetic of early childhood obesity. Her team studies children with severe early onset obesity and other endocrine disorders to identify novel genes or novel mutations in known genes. We bring these to the lab to study their function, and stive to identify mechanisms that will allow development of treatment. Dr. Chung is her research mentor and they work together on clinical studies on genetic forms of obesity.
Carli AndrewsCarli is a board certified genetic counselor and is one of the clinical research coordinators for the Congenital Heart Disease Genetic Network Study (CHD-GENES) within the Pediatric Cardiac Genomics Consortium (PCGC). She sees patients within the Columbia Cardiogenetics Program and is currently involved in inpatient care.
Catherine KentrosCatherine is originally from Canada and completed her genetic counseling graduate education at the University of Montreal. She is a CBGC board-certified genetic counselor in the Division of Molecular Genetics. Catherine serves as a research coordinator for the Simons Searchlight study and her areas of research and clinical interest include neurodevelopmental disorders and pediatrics. She speaks English, French, Greek and Spanish.
Randee YoungRandee is a Postdoctoral Research Scientist in the Chung lab. Her research focuses on rare genetic pediatric diseases. She utilizes patient-derived cellular disease models and animal models to study the genetic and molecular mechanisms contributing to neurodevelopmental disorders.
Jiangyuan Hu, PhD, is an Associate Research Scientist with over 20 years of research experience in neuroscience including addiction, depression, epilepsy, pain, synaptogenesis and synaptic plasticity underlying learning and memory. Currently, he is working on the molecular genetic pathogenesis of several human genetic disorders. His research interest focuses on neurodevelopmental genetic disorders. He uses genetic animal models and cellular systems to study synapses to the complex neural circuits and behavior levels to elucidate the mechanisms of neurodevelopmental disorders.
Jiayao is a bioinformatics analyst in Chung lab and Shen lab. He is currently working on sequencing data curation, developing and using bioinformatics tools to analyze NGS data and diving deep into bioinformatics.
Julia is a Senior Genetic Counselor and Clinical Research Coordinator. She practices as a clinical genetic counselor in the Columbia Cardiogenetics Program where she sees patients for a variety of cardiac indications including cardiomyopathy, arrhythmia conditions, sudden death, aortopathies and congenital heart disease. She is the research coordinator for DHREAMS (Diaphragmatic Hernia Research & Exploration; Advancing Molecular Science, http://www.cdhgenetics.com). She is co-chair of the NIH clinical sequencing exploratory research (CSER) genetic counseling working group in which she participates in research examining the ethic, legal and social implications of diagnostic and predictive genomic testing.
Dr. Deng is a research officer. His primary interest is developing and using bioinformatics tools to analyze next-generation sequencing data.
Na Zhu, PhD in bioinformatics, is a postdoctoral research scientist. She works on developing and applying statistics models on the NGS data. Currently she is focusing on the projects of pulmonary arterial hypertension and breast cancers.
Patricia is a research program coordinator with 25 years’ experience in clinical molecular biology. She is the study coordinator for human studies in obesity, diabetes, breast cancer, and spinal muscular atrophy. She has a strong practical and theoretical foundation in molecular biology, with emphasis on DNA, RNA, protein extraction, and primary cell tissue culture from human derived samples.
Priyanka is a clinical research coordinator for the Congenital Anomalies Research Exploration (CARE) study and a board certified genetic counselor. Clinically, she specializes in counseling patients with inherited skeletal dysplasias and cardiac conditions. She is a member of the National Society of Genetic Counselors and is a guest lecturer for the Long Island University Genetic Counseling program.
Dr. Teresa Lee is an Assistant Professor in the Department of Pediatrics in the Division of Pediatric Cardiology. She is board certified in pediatrics, pediatric cardiology (with advanced training in heart failure/transplantation), and clinical genetics. Her fellowship training in pediatric cardiology and heart failure/transplantation was supported by the Ruth L. Kirschstein National Research Service Award. Her research experience includes genetic research studying both monogenic and complex genetic diseases. She has studied the genetics of atherosclerosis using a mouse model, identified single nucleotide polymorphisms as part of the Human Genome Project, and used gene expression microarrays to identify genes related to conotruncal lesions in mice.
In Dr. Wendy Chung’s lab, she is studying the genetics of cardiomyopathy and congenital heart disease using methods of genetic characterization that include next-generation sequencing techniques such as whole exome sequencing and RNA-Seq. Her main research focus under the CTSA/Irving Institute TRANSFORM K12 Award involves the identification of novel genetic causes of infantile cardiomyopathy. Additionally, her research has been supported by The John M. Driscoll, Jr., MD, Children’s Fund, Colin’s Kids, Inc. (The Andrew King Research Award and The Colin Molloy Research Award), and the Babies Heart Fund.
Dr. Volkan Okur is a medical geneticist and is currently a postdoctoral research scientist. He is working on unraveling the genetic etiologies of various neurodevelopmental disorders.
Dr. Xinwei Han is an Associate Research Scientist in the Department of Pediatrics. His research centers on computational analysis of next generation sequencing data to identify disease risk genes. Currently, He is working on the bioinformatic analysis of whole exome sequencing data from the SPARK autism project. His research work also include the integrative analysis of DNA-seq and RNA-seq data to pinpoint risk genes with altered expression profile and the development of machine learning approaches to predict haploinsufficient genes based on epigenetic profiles.
Shen group in Systems Biology