Simons Searchlight Family and Research Conference – Speaker and Researcher Information

Baltimore Conference Speakers

Nathan Call, PhD, BCBA-D, Professor of Pediatrics & Associate Division Chief for Autism & Related Disorders, Emory University School of Medicine

Dr. Call is a Professor of Pediatrics and Associate Chief of the Division of Autism & Related Disorders in the Emory University School of Medicine. He has worked at Marcus Autism Center since 2006, where he has held many positions as a clinician and leader of clinical programs. He currently serves as the Director of Clinical Affairs & Interim Vice President for the center. In this role he oversees all clinical activities and works with providers and other center leaders to develop new clinical innovations. Dr. Call has an active research agenda and has published over sixty papers and book chapters on the treatment of challenging behavior exhibited by individuals with autism and related disorders.

Wendy Chung, MD, PhD, Kennedy Family Professor of Pediatrics in Medicine, Columbia University, Director of Clinical Research, SFARI, Simons Foundation

Wendy Chung is director of clinical research at SFARI (Simons Foundation Autism Research Initiative) and the principal investigator of Simons Searchlight and SPARK. She joined the foundation in 2012, after serving on the SFARI’s Scientific Advisory Board. Her role includes managing the research program in individuals with autism and other neurodevelopmental disorders, evaluating opportunities to develop new treatments including medications such as arbaclofen, and developing novel outcome measures to evaluate the efficacy of these treatments. She is involved in identifying novel genes for autism and characterizing the clinical features associated with these novel genes. Chung delivered a TED Talk, “What We Know About Autism.”

Chung earned her undergraduate degree in biochemistry and economics from Cornell University, her M.D. from Cornell University Medical College and her Ph.D. from the Rockefeller University in human genetics. She completed her residency in pediatrics and fellowships in medical and molecular genetics at Columbia University. Chung is also the Kennedy Professor of Pediatrics and Medicine at Columbia University, where she directs the clinical genetics program and performs human genetics research.

Charlotte DiStefano, PhD, Assistant Professor, Psychiatry and Behavioral Sciences, University of Southern California, Children’s Hospital Los Angeles

Dr. Charlotte DiStefano is a clinical psychologist who specializes in neurodevelopmental disorders and related neurogenetic syndromes. She is an Assistant Professor of Psychiatry and Behavioral Sciences at University of Southern California and Children’s Hospital Los Angeles.

After receiving a B.S. in Special Education from New York University and an Ed.M. in Mind Brain and Education from Harvard University, Dr. Charlotte DiStefano received her Ph.D. in Psychological Studies in Education from University of California Los Angeles. She completed her postdoctoral training at the UCLA Center for Autism Research and under the mentorship of

Dr. Shafali Jeste. Before earning her Ph.D., Dr. DiStefano worked as a special education teacher in both New York City and Los Angeles.

Clinically, Dr. DiStefano is the Lead Psychologist for Autism and Neurodevelopmental Services in the Developmental and Behavioral Health Program at Children’s Hospital Los Angeles, where she oversees evaluation and treatment of children with neurodevelopmental disorders.

Dr. DiStefano’s primary research interests are language and cognitive development in children with neurodevelopmental disorders, particularly those who are minimally verbal. Her work has been funded by the Dup15q Syndrome Alliance, Angelman Syndrome Foundation, Autism Speaks and National Institute of Deafness and Communication Disorders.

Tally Foster OTD, OTR/L, BCP, Ability Plus Therapy

Tally Foster is an occupational therapist with 26 years of experience who currently works with children and families of children with physical, sensory, and developmental differences and various complex neurological and medical conditions. Tally has received advanced board certification in Pediatrics from the American Occupational Therapy Association. Her work includes specializing in intensive therapy programs, serving as the director of sensory integration in a private school setting for students with neurological and physical disabilities, and as a contributing faculty member for the post-professional occupational therapy doctoral program at the University of St. Augustine.

Trina Geye, PhD, Assistant Professor of Psychological Sciences, Tarleton State University

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.

Chad E. Grueter, PhD, Associate Professor, University of Iowa, Department of Internal Medicine, Division of Cardiology

Dr. Grueter earned a Ph.D. in Molecular Physiology and Biophysics from Vanderbilt University in 2006. He then spent six years at the University of Texas Southwestern Medical Center as a postdoctoral fellow. His graduate and postdoctoral work focused on molecular regulation in cardiovascular disease. In 2013 he opened his own lab at the University of Iowa. Dr. Grueter has devoted his research efforts to elucidating the role of the Mediator kinase submodule in cardiovascular disease using genetically modified mouse models. Recently, the lab has expanded its’ research approach in collaboration with the MED13L foundation to encompass the physiological and molecular actions of MED13L in development.

Rajneesh Mahajan, MD, Child and Adolescent Psychiatrist, Center for Autism and Related Disorders, Kennedy Krieger Institute

Dr. Mahajan is a child and adolescent psychiatrist at the Center for Autism and Related Disorders at Kennedy Krieger Institute. He is also an Assistant Professor in Psychiatry at Johns Hopkins University School of Medicine. He is board certified in Child, Adolescent and Adult Psychiatry by the American Board of Psychiatry and Neurology. Dr. Mahajan has interest in neurodevelopmental disorders and the evaluation and treatment of co-occurring disorders and problem behaviors.

Alisa Mo, MD, PhD, Child Neurology Fellow, Department of Neurology, Boston Children’s Hospital

Alisa Mo, MD, PhD is a child neurology fellow at Boston Children’s Hospital specializing in the genetics of neurodevelopmental disorders. She received her B.A. degree in biological sciences and mathematics from Cornell University and her M.D. and Ph.D. degrees from Johns Hopkins University School of Medicine. She finished a residency in child neurology at Boston Children’s Hospital in 2022. She has been awarded an NIH Research Education R25 grant and has been investigating the role of somatic mutations in neurodevelopmental disorders in the laboratory of Christopher A. Walsh.

Angela Morgan, Professor-Chair of Speech Pathology and a Dame Kate Campbell Professorial Fellow, University of Melbourne; Speech Pathologist and Neuroscientist, Murdoch Children’s Research Institute

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.

Volkan Okur, MD, FACMG, Assistant Laboratory Director, New York Genome Center

Dr. Okur is a trained clinical (Turkey) and laboratory geneticist (USA). He has experience in clinical, diagnostic, and research fields of human genetics. He has been primarily involved in identification of new gene-disease associations, particularly neurodevelopmental disorders, while working at Columbia University with Dr. Wendy Chung and while completing his fellowship at Baylor College of Medicine. He is now working at New York Genome Center as Assistant Laboratory Director and continuing his research interest in previously identified disorders at Columbia University. His primary research area is delineating the clinical and molecular picture of Okur-Chung Neurodevelopmental Syndrome (OCNDS) and understanding the underlying biological effects of molecular causes that result in OCNDS.

Stephanie Robertson, Associate Professor of Psychological Sciences and Director of the Tarleton Center for Child Well-Being, Tarleton State University

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.

Katie Sacra, Director of Operations and Family Programs, Global Foundation for Peroxisomal Disorders

Katie has over 20 years of experience in healthcare administration and 22 years lived experience as a parent and caregiver to her son, TJ, living with deaf-blindness and multiple disabilities caused by peroxisomal biogenesis disorder-Zellweger spectrum disorder. She currently serves as the Director of Operations and Family Programs for the Global Foundation for Peroxisomal Disorders. Katie is passionate about empowering others through advocacy, family support, and collaborating with patients and families to bridge the gap between the family and professionals. Katie has a unique blend of experiences, including training in leadership, deafblind intervention through East Carolina University, advocacy and lobbying, person-centered planning and facilitation through Perkins School for the Blind, customized employment, communication through touch, calendar systems, special education law, peer support, family engagement, and sibshop facilitation. Originally from Maryland, she currently resides in Myrtle Beach, SC with her husband and son.

Sharon Spurlock, Charting the LifeCourse Ambassador Coach

Sharon Spurlock has worked in support of people with intellectual and developmental disabilities since 1982. She currently serves as Senior Director of Family Support at the St. Louis Arc where she oversees planning and problem solving for the 6,000 individuals and families who reach out for help. Sharon also works as a Charting the LifeCourse Ambassador Coach assisting families and professionals across the country to learn about the LifeCourse framework. She is proud to focus on the person in the context of family in her approach to supporting people to create their good life.

Randy Strich, PhD

Dr. Randy Strich, Ph.D. attended the University of Pennsylvania as an undergraduate and obtained his Ph.D. in Microbiology from the University of Illinois, Urbana studying the biochemistry of DNA replication. As a postdoctoral fellow at the University of Chicago, Dr. Strich investigated the transcriptional control of meiotic genes in budding yeast. It was early in this research Dr. Strich identified the yeast version of MED13 that he began studying in his own laboratory at the Fox Chase Cancer Center in Philadelphia. After his subsequent move to Rowan School of Osteopathic Medicine (formally UMDNJ), he began work on the mammalian version of MED13 including MED13L. His research has centered on the role MED13/MED13L play in multiple cellular pathways including gene transcription and mitochondrial dynamics.

Siddharth Srivastava, MD, Boston Children’s Hospital

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.

Dr. Maggie Wong, DPhil, Language and Genetics Department, Max Planck Institute for Psycholinguistics

I am interested in understanding the genetic network and biological pathways involved in human brain development. During my doctoral studies at the University of Oxford, I studied how impaired dendritic development of Purkinje cells can contribute to the aetiology of late-onset cerebellar degeneration using induced pluripotent stem cell (iPSC)-derived models. After finishing my DPhil studies, I joined the group of Prof. Dr. Simon E. Fisher as a postdoctoral researcher to detangle the neurobiological pathways involved in human speech by studying monogenic speech disorders. My current research aims to delineate how different types of rare genetic variants in the same genetic loci, for example in SETBP1, lead to phenotypic heterogeneity in patients. To do this, I use a combination of different human cellular models including iPSC-derived brain organoids and transcriptomics approaches.

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)

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

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)

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