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Scientific Advisory Board
The Scientific Advisory Board (SAB) is a group of distinguished researchers and clinicians that have volunteered their time and expertise to support and guide the work of the Foundation. The SAB members bring a wealth of experience in basic, animal, and clinical research and practice, with cross-cutting areas of expertise spanning FOXP1 biology, neuroscience, genetics, bioinformatics, and molecular bases of autism and related neurodevelopmental disorders, among others. With their backgrounds and experience, they help the Foundation prioritize and plan its research activities, network with other research groups working on topics relevant to FOXP1, and connect with other similar advocacy groups. SAB members also share their expertise with the wider FOXP1 community in our monthly virtual meet-ups, parent-research meetings, and other community events. Finally, the Foundation hopes to raise enough money to support FOXP1 research projects, and the SAB will help review and evaluate applications for research funds. The current SAB members are profiled below.
DAVID AMARAL, Ph.D.
Distinguished Professor and Beneto Foundation Endowed Chair at University of California at Davis; Director of the Autism Center of Excellence at M.I.N.D. Institute
David Amaral received a joint Ph.D. in Psychology and Neurobiology from the University of Rochester and then carried out postdoctoral work at Washington University in neuroanatomy. For the last 25 years, his research has been dedicated to understanding the psychological and biological bases of autism spectrum disorder, including postmortem studies of the autistic brain, MRI studies of children with autism spectrum disorder, and efforts to establish nonhuman primate models of autism spectrum disorder. Through his research, David has published over 330 research articles and has co-edited three books. In his present roles, he coordinates a comprehensive and multidisciplinary analysis of children with autism at the MIND Institute called the Autism Phenome Project to define biomedical characteristics of different types of autism. In 2001, Amaral collaborated with Cure Autism Now and NAAR to hold the first International Meeting for Autism Research in San Diego which led to the creation of the International Society for Autism Research (INSAR) and the INSAR conference. David went on to serve as the President of INSAR in 2009 and 2010. In April of 2015, he became Editor-in-Chief of Autism Research, the journal of INSAR. In 2016, he was appointed to the Interagency Autism Coordinating Committee by the US Secretary of Health and Human Services. In 2019, David was elected to the prestigious US National Academy of Medicine. He also holds appointments with the Department of Psychiatry and Behavioral Sciences, Center for Neuroscience, and the California National Primate Research Center.
JACKI CRAWLEY, Ph.D.
Distinguished Professor Emerita, MIND Institute; Department of Psychiatry and Behavioral Sciences, University of California Davis School of Medicine
Jacki Crawley is an internationally recognized behavioral neuroscientist whose recent research focused on genetic mouse models of neurodevelopmental disorders. From 2012 to 2020 she served as the Robert E. Chason Endowed Chair in Translational Research at the MIND Institute, and Professor in the Department of Psychiatry and Behavioral Sciences, University of California Davis School of Medicine, in Sacramento.
Jacki received her B.A. in biology from the University of Pennsylvania, Ph.D. in zoology from the University of Maryland, and conducted postdoctoral research in neuropsychopharmacology at Yale University School of Medicine. As a principal investigator at the National Institute of Mental Health Intramural Research Program in Bethesda, Maryland since 1983, she served as Chief of the Laboratory of Behavioral Neuroscience until moving to the UC Davis MIND Institute in 2012. Her behavioral neuroscience laboratory has employed mouse and rat models of anxiety, depression, schizophrenia, Alzheimer’s, obesity, and neurodevelopmental disorders to understand biological causes and to discover medical treatments. Recent work in her laboratory on genetic mouse models of autism identified GABA-A and GABA-B receptor agonists, and mGluR5 and AMPA receptor modulators, which improved aspects of social interaction and reduced repetitive behaviors. She has published over 275 papers and 110 review articles, served on numerous editorial boards, scientific advisory and grant review committees, received honors including the IBNS Myers Lifetime Achievement Award, IBANGS Distinguished Scientist Award, NIMH Director’s Award, UC Davis Dean’s Award, and chaired the Summer Neuropeptide Conference and AAAS Neuroscience Section. Jacki has also authored , a widely used reference in the biomedical research community.
SIMON FISHER, Ph.D.
Managing Director of the Max Planck Institute for Psycholinguistics and Professor of Language and Genetics at the Donders Institute for Brain, Cognition and Behaviour, in Nijmegen, the Netherlands
Simon E. Fisher is managing director of the Max Planck Institute for Psycholinguistics and Professor of Language and Genetics at the Donders Institute for Brain, Cognition and Behaviour, in Nijmegen, the Netherlands. Following his Natural Sciences degree (Cambridge University), and a doctorate in genetics (Oxford University), Simon carried out postdoctoral research at Oxford’s Wellcome Trust Centre for Human Genetics on genomics of developmental disorders of speech, language, and reading, including discovery of the FOXP2 gene. From 2002-2010, Simon was a Royal Society University Research Fellow and head of his own group at the Wellcome Trust Centre, investigating how language-related genes influence brain development. In 2010 he was appointed by the Max Planck Society to establish a new department at the Nijmegen MPI, devoted to tracing functional links between genetics and language. Simon’s research adopts a multidisciplinary viewpoint, integrating data from genomics, psychology, neuroscience, cellular/developmental biology and evolutionary anthropology.
SHARYL FYFFE-MARICICH, Ph.D.
Vice President of Molecular and Cell Sciences, Research at Ultragenyx Pharmaceutical Inc.
Sharyl Fyffe-Maricich received her Ph.D. in Human and Molecular Genetics from Baylor College of Medicine where her work focused on a neurodevelopmental disorder called Rett Syndrome. Following her postdoctoral training at Case Western Reserve University in Cleveland, Sharyl joined the University of Pittsburgh School of Medicine faculty as a tenure track Assistant Professor of Pediatric Neurology. Her work was supported by the National Multiple Sclerosis Society and NIH R01 funding from the National Institute of Neurological Disorders and Stroke (NINDS). Sharyl joined Ultragenyx in 2016 where she leads a research team focused on the preclinical development of several rare disease programs, including an AAV9 gene therapy for a rare developmental epileptic encephalopathy called CDKL5 deficiency disorder (CDD).
JOZEF GÉCZ, Ph.D.
Professor and Head of the Neurogenetics Research Program at the University of Adelaide Medical School
Jozef Gécz is a Human Geneticist at the Adelaide Medical School, University of Adelaide, Australia. Jozef’s scientific career spans 38 years of competitive research in genetics and biology of neurodisability, from Slovakia, to France and Australia (last 30 years). His focus is in disease gene identification and functional, cellular and molecular characterisation across intellectual disabilities, epilepsies, autisms and more recently cerebral palsies, for better understanding, management and ultimately treatment of these conditions.
RACHEL GROTH, Ph.D.
Vice President of Translational Research at Neuren Pharmaceuticals
Rachel Groth is Vice President of Translational Research at Neuren Pharmaceuticals. She has more than a decade of experience leading drug discovery and early development efforts in industry across diverse therapeutic areas and drug modalities. Before joining Neuren Pharmaceuticals, Rachel held roles of increasing responsibility at Pfizer, Biogen, and BridgeBio. Rachel earned her B.A. in Biology and Neuroscience from Macalester College, her Ph.D. in Neuroscience from the University of Minnesota, and completed her postdoctoral training in Molecular and Cellular Physiology at Stanford University.
JENNIFER KLEIN, M.A.
Research Scientist and Head of Operations and Program Management at Odylia Therapeutics Inc.
Jennifer Klein is a rare disease patient battling Mucolipidosis type lll alpha/beta and a research scientist currently employed at Odylia Therapeutics Inc. as their head of Operations and Program Management. She received her undergraduate degrees in human biology and psychology and her Master’s degree in physiology from North Carolina State University. Upon graduation, she entered the biotech industry, where she expanded the drug discovery pipeline for rare diseases at Collaborations Pharmaceuticals Inc. (CPI) and is currently developing gene therapy products from non-clinical through clinical trials for rare diseases at Odylia Therapeutics.
GENEVIEVE KONOPKA, Ph.D.
Associate Professor of Neuroscience and the Jon Heighten Scholar in Autism Research at UT Southwestern Medical Center
Genevieve Konopka received dual B.S. degrees in Brain and Cognitive Sciences and Biology from MIT and completed her Ph.D. in Neurobiology at Harvard University. The research in the Konopka lab focuses on understanding the molecular pathways important for human brain evolution that are at risk in cognitive disorders such as autism and schizophrenia. Her lab uses a combination of human neurons, animal models, and primate comparative genomics to uncover human-specific, disease-relevant patterns of gene expression. Recent work in her lab integrates gene expression with signatures of neuronal activity in the human brain. Genevieve is the recipient of numerous awards including a NARSAD Young Investigator Award, an NIH Pathway to Independence Award, a Basil O’Connor Scholar Award from the March of Dimes, a Young Investigator Award from the International Society for Autism Research (INSAR), a Kavli Fellow of the National Academy of Sciences, and an Understanding Human Cognition Scholar Award from the James S. McDonnell Foundation.
ANA KOSTIC, Ph.D.
Associate Professor of Psychiatry at the Icahn School of Medicine at Mount Sinai, and the Director of Drug Discovery and Development at the Seaver Autism Center for Research and Treatment
Ana Kostic is a clinical scientist with expertise in drug development, biomarkers, patient selection and stratification. The main focus of her research is to identify potential drug candidates for treatment of autism, design experimental strategies for testing in neuronal cell systems and animal models, as well as to discover and validate molecular biomarkers in autism. Specifically, her group is interested in ADNP, DDX3X, FOXP1, and Phelan-McDermid syndromes, the most common single-gene causes of autism. Prior to joining Mount Sinai, Ana spent eleven years in the biotech/pharmaceutical industry working in various roles across preclinical, clinical and precision medicine at Regeneron Pharmaceuticals and as Senior Director of Translational Medicine at Kiniksa Pharmaceuticals. She received her Ph.D. and postdoctoral training in molecular and cell biology at Columbia University.
EXEQUIEL MEDINA, Ph.D.
Assistant Professor in the Faculty of Chemical and Pharmaceutical Sciences at University of Chile
Exequiel Medina is a biochemist specialized in structural biology of transcription factors and DNA-binding proteins. Exequiel received his Ph.D. in Biochemistry in 2018 at University of Chile, and is now an assistant professor in the Faculty of Chemical and Pharmaceutical Sciences of the same institution. Exequiel is currently studying the role of the protein disorder and macromolecular association in the function of human FOXP1, to understand how important they are for DNA-binding and gene expression regulation. His long-term goal is to use protein biophysics at cellular level to decipher the molecular mechanisms that govern the function of human FOXP transcription factors.
GUDRUN RAPPOLD, Ph.D.
Professor and Chair of Molecular Human Genetics at the Medical Faculty of Heidelberg University and member of the Faculty of Biosciences
After studying biosciences in Heidelberg, Konstanz and at Stanford, Gudrun Rappold completed her doctoral program in 1984 with Thomas Cremer and Friedrich Vogel at the University of Heidelberg on the role of human sex chromosomes. After completing post-doctoral research, she established her own research group at the Institute for Human Genetics in Heidelberg, funded by the Gerhard Hess Program of the German Research Association. The research in Gudrun’s group focused on the molecular mechanisms of genetic developmental disorders, with a special emphasis on neurodevelopmental disorders and the genetic cause of intellectual disability and autism, as well as on the regulation of transcription factors in growth and development. She has published over 200 original papers, 50 reviews and book chapters, a monograph, and multiple patents. She has received several awards and recognitions, including the Gerhard Hess Prize from the German Research Foundation (1989–1994), the award for basic research from the State of Baden-Württemberg (1990) and various prizes for the research performance of employees (1997–2019). She is a member of the Center for Rare Diseases, the Interdisciplinary Center for Neurosciences, the German Center for Cardiovascular Diseases and the CellNetworks Cluster of Excellence, among several other institutional and society memberships.
ANNETTE SCHENCK, Ph.D.
Professor in the Human Genetics Department at the Radboud University Medical Centre in Nijmegen, the Netherlands
Annette Schenck obtained her Ph.D. and an award for the best thesis in 2003, from the University Louis Pasteur, Strasbourg, France, for her work on the molecular basis of Fragile X Syndrome. Her postdoctoral research at the Max Planck Institute for Cell Biology & Genetics in Dresden, Germany, explored the function of a novel endocytic organelle. In 2007, she was awarded a tenure-track research fellowship at Radboud UMC. In 2008 she was tenured, and in 2009 followed her promotion to Associate Professor. Her work in the Drosophila fruit fly as a model for neurodevelopmental disorders has uncovered multiple molecular networks and mechanisms underlying cognition in health and disease. She demonstrated that cognitive deficits in some of these models can be reversed at adult stages and currently pursues several projects aiming to identify pharmacologic or behavioural intervention approaches. Annette also applies Drosophila to improve diagnostics, which has contributed to the validation of >two dozen ID/ASD genes, has generated deep insights into disease pathologies, and provided evidence that Drosophila can contribute to clinical decision making. Some of her current work in this context focuses on the Drosophila FOXP gene with applicability to the genesis of and potential clinical interventions for human FOXP1 syndrome.
She is a past VIDI and Aspasia awardee, founding member of the German Mental Retardation network and the Junior European Drosophila Investigators, member of the International Rare Disease Consortium model organism expert panel, and co-designed or contributed to multiple international consortia. In 2020, Schenck received the most prestigious personal career award from The Netherlands Organisation for Scientific Research, was elected member of the Academia Europaea, and promoted to full Professor.
SIDDHARTH SRIVASTAVA, M.D.
Assistant Professor of Neurology at Harvard Medical School/Boston Children's Hospital
Siddharth Srivastava is a pediatric neurologist at Boston Children's Hospital specializing in neurogenetics. His research involves studying different genetic causes of neurodevelopmental presentations with the goal of developing targeted treatments. At Boston Children's Hospital, he provides care to children in a variety of neurodevelopmental and neurogenetics clinics. He received his B.A. degree in biochemistry from Columbia University and his M.D. degree from Johns Hopkins University School of Medicine. He finished a combined residency in pediatrics and neurodevelopmental disabilities at Johns Hopkins Hospital and the Kennedy Krieger Institute. He completed a fellowship in neurogenetics at Boston Children's Hospital.
CORA TAYLOR, Ph.D.
Assistant Professor and Clinical Psychologist at Geisinger Autism & Developmental Medicine
Cora Taylor has expertise in the diagnostic evaluation of children with a range of developmental concerns. At Geisinger, she conducts research and leads the phenotypic battery selection and administration on a variety of current research protocols at Geisinger, with a focus on the phenotypic characterization of individuals with rare genetic conditions. Cora has experience in engaging families and family-based organizations for rare genetic conditions in research through online participation that is offered internationally to interested patients and families. Prior to joining Geisinger, Cora completed her graduate training at the University of Tennessee, and a research and clinical postdoctoral fellowship at Vanderbilt University.
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