Meet the Research Team

Jennifer Bain, MD, PhD, Columba University, NY, Motor testing – CSNK2A1, HIVEP2, MED13L, SETBP1

Jennifer Bain, MD, PhD, is an assistant professor of neurology and pediatrics at Columbia University Medical Center. Dr. Bain completed both M.D. and PhD. as well as general pediatrics residency at Rutgers – New Jersey Medical School in Newark, New Jersey. She then trained in Child Neurology at New York Presbyterian – Columbia University Medical Center in New York City and is a board-certified neurologist with special certification in Child Neurology. Her early research career focused on spinal cord and brain development after injuries such as spinal cord injury and perinatal hypoxic ischemic encephalopathy. She currently works as a physician scientist at Columbia University specializing in general pediatric neurology with expertise in development, behavioral neurology and autism. Her clinical research has focused on studying the genetics of neurodevelopmental disorders including autism and cerebral palsy. She has been working closely with several patient advocacy groups, researchers, and Simons Searchlight to continuously move forward in the understanding of the developing brain.

Karen Chenausky, PhD, CCC-SLP, MGH Institute of Health Professions (MA), Speech/Motor – CSNK2A1, HIVEP2

Karen Chenausky is an assistant professor in the Communication Sciences and Disorders Department at MGH Institute of Health Professions and Instructor in the Neurology Department at Harvard Medical School. She directs the Speech in Autism and Neurodevelopmental Disorders (SPAN) Lab, where she studies speech production and speech perception in children at risk for remaining minimally verbal, with the goal of creating novel treatments to improve communication in these severely-affected children.

Simone Gill, PhD, Boston University (MA), Speech/Motor – CSNK2A1, HIVEP2

Dr. Gill investigates how individuals’ bodies and environmental demands influence walking and motor functioning across the lifespan. She uses a variety of methods to examine how children and adults modify their walking patterns to navigate through the environment. She is particularly interested in understanding how childhood and adult obesity affect the ability to adapt to change. She is a member of the American Occupational Therapy Association, the Obesity Society, the Society for Research in Child Development, the International Society of Developmental Psychobiology, and the American Diabetes Association.

Trina Geye, PhD, Tarleton State University, TX, SETBP1-HD Collaborative Research Study (SCoReS)

Trina has a PhD in Educational Psychology and is also a licensed professional counselor. She is an assistant professor in the Department of Psychological Sciences at Tarleton State University, where her research has focused on bridging academic scholarship with community need and on access for individuals with disabilities. Trina has served on the SETBP1 Society Board of Directors since it’s inception; this partnership as developed into an ongoing collaborative research project with the SETBP1 HD community. Based on the Parent Experience study conducted last year, the team will be working on a community needs assessment and further exploration of the SETBP1 HD phenotype.

Sylvie Goldman, PhD, Columbia (NY), Motor testing – CSNK2A1, HIVEP2, MED13L, SETBP1

Sylvie Goldman is a developmental psychologist at Columbia University Irving Medical Center in the division on Child Neurology. After her degree and training in Clinical Psychology from the Université Libre de Bruxelles, she obtained a PhD in Developmental Psychology from the City University of New York, Graduate Center followed by a postdoctoral position in Child Neurology at Albert Einstein College of Medicine. She currently evaluates toddlers for neurodevelopment disorders with and without genetic etiology and specializes in early identification of autism spectrum disorders with an interest in the girl’s phenotype. She began her research on motor manifestations of autism including video coding of gait and stereotypies under the mentorship of renowned child neurologist Isabelle Rapin at Albert Einstein College of Medicine. In 2015, she participated in a VIP Simons Foundation Family meeting, the results of her study on automated gait analysis in children with 16p11.2 syndrome were published in Journal of Neurodevelopmental Disorders. She has established a collaboration with Dr Adel Ardalan, computer scientist at Princeton and Dr Jennifer Bain, child neurologist at Columbia University to develop remote, ecologically valid and easily accessible quantifiable gait measures for children with Rare Neuro-Developmental Disorders (RNDD).

Caitlin Hudac, PhD, Univ of Alabama/Univ of South Carolina, EEG – CSNK2A1, HIVEP2, MED13L, SETBP1

Caitlin Hudac is an associate professor at the University of South Carolina in the Department of Psychology. Her education started with a B.A. in Human Development at the University of Chicago, continued as a research assistant in labs at Carnegie Mellon University and Yale University, and culminated with a Ph.D. in Developmental Psychology from the University of Nebraska-Lincoln. Her postdoctoral training at the University of Washington is where she began her research relevant to autism genetics with a special focus on using brain responses as part of the deep phenotypic goals of the UW TIGER study. Specifically, she uses electroencephalography (EEG) as a way of measuring attention, language, and social signals to pinpoint unique brain profiles. As part of her lab’s BioGENE Study, she recently completed a continental US “road trip” where she was able to work with over 50 individuals with genetic mutations, including infants, toddlers, children, and adults.

Marissa Mitchel, Geisinger (PA), Speech – MED13L

Marissa Mitchel earned her MS in Communication Sciences & Disorders from Penn State University, where her graduate and clinical work focused on augmentative & alternative communication for individuals with complex communication needs. She currently serves as a clinical research speech-language pathologist at the Geisinger Autism & Developmental Medicine Institute. Her research interests focus on the genetic architecture of motor speech disorders and the characterization of speech and language skills among children with rare genetic conditions.

Andres Moreno De Luca, MD, Geisinger (PA), MRI scan collection – MED13L

Dr. Moreno De Luca is a physician-scientist with clinical expertise in diagnostic neuroradiology and translational research experience in neurogenetics of developmental brain disorders. His research interests include the discovery and characterization of genomic variation in individuals with neurodevelopmental disorders, including cerebral palsy, intellectual disability, autism, and epilepsy, as well as the implementation of genomic data to inform the interpretation of clinical neuroimaging studies (Precision Neuroimaging) to correlate genotype with clinical and neuroimaging phenotypes in a variety of neurodevelopmental disorders.

Angela Morgan, MRCI (Australia), Speech – SETBP1

Dr. Angela Morgan is a speech pathologist and neuroscientist who leads the Speech and Language group at the Murdoch Children’s Research Institute where she is the Dame Elizabeth Blackburn Fellow. She is also Professor-Chair of Speech Pathology and a Dame Kate Campbell Professorial Fellow at the University of Melbourne. Angela has over 25 years of clinical-research experience. Her career has focused on understanding causation, diagnosis and treatment of children with speech and language disorders. Angela leads the NHMRC Centre of Research Excellence in Speech and Language. Angela and team have identified a number of genetic conditions causative for apraxia of speech. Her team have also characterised speech and language in SETBP1-haploinsufficiency disorder.

Nicolo Pini, Columbia University (NY), EEG – CSNK2A1, HIVEP2, MED13L, SETBP1

Nicolo Pini is a Postdoctoral Research Scientist in the Department of Psychiatry at Columbia University Irving Medical Center and at Division of Developmental Neuroscience, New York State Psychiatric Institute. He is a biomedical engineer by training, with expertise in advanced signal processing techniques for the analysis of physiological data (EEG, ECG, respiration, and blood pressure). During his graduate and doctoral training, he began the development of a framework for characterizing physiology in the perinatal period. Building on this work, his current research focuses on the identification of biomarkers to inform longitudinal trajectories of development across the lifespan. He is particularly interested in noninvasive and scalable methodologies to investigate brain development and identify sensitive periods for intervention.

Stephanie Robertson, Tarleton State University, TX, SETBP1-HD Collaborative Research Study (SCoReS)

Stephanie Robertson is an Associate Professor of Psychological Sciences and the founder and director of the Tarleton Center for Child Well-being. She is an active researcher investigating the relationship between mental health diagnoses, personality characteristics, giftedness, and work/educational accessibility. Her current research emphasis is on the intersection of school/work and characteristics of autism. She is also passionate about serving Tarleton students and the community through training and practice. She established the Tarleton Center for Child Well-being as a multidisciplinary behavioral health training clinic, providing internship and clinical research opportunities for graduate students in psychology, counseling, and social work.

Siddharth Srivastava, MD, Boston Children’s Hospital (MA), DNA Methylation – HIVEP2 and SETBP1

Dr. Siddharth Srivastava is a pediatric neurologist at Boston Children’s Hospital specializing in neurogenetics. His research involves studying different genetic causes of neurodevelopmental presentations — such as autism, intellectual disability, cerebral palsy, and developmental regression — using the multimodal approach of gene discovery, cognitive/behavioral phenotyping, and biomarker identification. This approach not only pinpoints possible mechanisms of disease but also delineates appropriate targets for therapy in future clinical trials aimed at improving neurodevelopmental outcomes in these disorders.