Scientific Advisory Board

Kristin Grimsrud
CHAMP1 Research Foundation
Dr. Kristin Grimsrud is an Assistant Clinical Professor in the Department of Pathology and Laboratory Medicine in the School of Medicine at the University of California Davis (UCD). Additionally she is the Associate Director of Vivaria and Veterinary Care at the UCD Mouse Biology Program (MBP). Prior to this role she obtained a DVM, PhD in Pharmacology and Toxicology, completed a residency in Laboratory Animal Medicine, a fellowship in clinical pharmacology and a postdoc in cardiothoracic surgery with an emphasis in regenerative medicine in large animal models. Her current role at the MBP includes serving on a number of NIH consortium grants including the Knockout Mouse Project, the Mutant Mouse Resource and Research Center and the Mouse Phenotyping Program. She has additional research focus of developing and analyzing precision animal models based on human patient variants, with a specific interest in the CHAMP1 gene. Her personal research interests focuses on characterizing individual variation in drug pharmacokinetics in special populations, specifically burn and pediatric patients. She has a currently funded K01 and Shriner’s Hospital for Children grant to investigate the impact of pharmacogenetics on opioid metabolism and efficacy.
Steve Traynelis
GRIN2B Foundation
Dr. Stephen Traynelis is a Professor of Pharmacology and Chemical Biology at the Emory University School of Medicine in Atlanta, GA. He received a BS from West Virginia University in Chemistry (1984, summa cum laude) and a Ph.D. in Pharmacology from the University of North Carolina (1988). He completed postdoctoral fellowships at University College London and the Salk Institute. Dr. Traynelis is an AAAS Fellow, former editor-in-chief of Molecular Pharmacology, recipient of a NIH Javits Award and R35 Research Program Award, and a co-author on over 200 peer-reviewed papers, book chapters, and invited commentaries. Dr Traynelis is a co-inventor on 6 US patents. Dr. Traynelis has made numerous seminal discoveries about the fundamental properties of glutamate receptors, especially NMDA receptors. More recently, he has developed multiple first-in-class series of subtype-selective NMDA receptor allosteric modulators that possess therapeutic potential for the treatment of ischemic brain injury, schizophrenia, Parkinson’s Disease, epilepsy and other disorders. This led to the founding of NeurOp Inc and the development of neuroprotective agents, one of which is currently being evaluated in clinical trials. Dr. Traynelis’ efforts to understand the functional consequences of genetic variation in glutamate receptor genes (GRIN, GRIA, GRIK, GRID) in healthy individuals and neurological patients have provided new insights into receptor function and genetic risk factors. These efforts led to the founding of a new Center at Emory that bridges the gap between genetic information on receptor variants and their functional and pharmacological consequences, laying the groundwork for precision medicine and the evaluation of novel treatment paradigms.

Edwin Oh
Foundation for USP7 Related Diseases
Dr. Edwin Oh received his Ph.D. in Neuroscience from the University of Michigan in 2008. Following a postdoctoral fellowship at Johns Hopkins University, he served as an Assistant Professor in the Department of Neurology at Duke University. Dr. Oh is currently an Associate Professor in the School of Medicine and the Nevada Institute of Personalized Medicine. The primary questions that drive Dr. Oh’s research program are 1) what are the genetic and structural variants that contribute to human health and disease, 2) how do we interpret such variation to improve the cellular and molecular diagnosis of genetic diseases, and 3) how do we enable the development of therapeutic paradigms. To address these questions, Dr. Oh utilizes a variety of molecular and genomic technologies and animal modeling systems that include next generation sequencing platforms and mouse and zebrafish mutant models.

Ane Korff
Project Yellow Brick Road Foundation
Dr. Korff is a Staff Scientist at St. Jude Children’s Research Hospital. She completed her doctoral studies in neuropharmacology at North-West University in South Africa. Dr. Korff’s interests include translational and basic research (biomarkers, models) on neurodegenerative diseases including Parkinson's disease, Alzheimer's disease and Amyotrophic lateral sclerosis, as well as neurodevelopmental disorders including Bain type of X‐linked syndromic mental retardation (HNRNPH2).

Richard McKenney
Dr. McKenney has a long-standing research interest in the cytoskeleton, and in particular the motor proteins that utilize the cytoskeleton as tracks for intracellular transport. He pursued graduate research focused on the mechanochemical regulation of the microtubule motor cytoplasmic dynein at Columbia University in the lab of Dr. Richard Vallee, who discovered the motor protein cytoplasmic dynein. His work was the first to describe how two regulatory proteins, LIS1 and NudE, are able to modulate dynein’s motor output, transforming it from a weak to a persistent motor. In the lab of Dr. Ron Vale at UCSF Dr. McKenney studied how dynein organizes microtubule networks, how it is activated and linked to cargo through the dynactin complex and adapter proteins, and how its motor activity is directly influenced by post-translational modification of the microtubule track itself. Currently, his lab studies how cells internally organize using molecular motor proteins using a filament system for transport (kinesins and dyneins). His lab combines advanced molecular biology, biochemistry and single-molecule TIRF microscopy to address these problems.
Joe Buxbaum
CureSHANK Foundation
Joseph D. Buxbaum, PhD is a Professor of Psychiatry, Genetics and Genomic Sciences, and Neuroscience, and serves as the Director of the Seaver Autism Center for Research and Treatment, and is Vice Chair for Research and Mentoring of the Department of Psychiatry. Dr. Buxbaum is a renowned molecular neuroscientist whose research aims to understand the molecular and genetic basis of autism spectrum disorder and associated neurodevelopmental disorders, with the goal of developing novel therapeutics. Dr. Buxbaum is a founder and communicating Principal Investigator of the Autism Sequencing Consortium, currently analyzing whole exome sequencing from 38,000 individuals to identify ASD genes. In addition, his lab has numerous human stem cell lines ongoing and has characterized more than a dozen rodent models for ASD and associated disorders. Dr. Buxbaum received his BSc in Math and Biology from Touro College, and his MSc and PhD in Neurobiology from the Weizmann Institute of Science in Israel. Dr. Buxbaum completed a Postdoctoral Fellowship in Molecular and Cellular Neuroscience at the Rockefeller University. Dr. Buxbaum was elected to the National Academy of Medicine in 2015 and was elected a fellow of the International Society for Autism Research in 2019.

Jennifer Fish
SATB2 Gene Foundation
Dr. Jennifer Fish is an Assistant Professor at the University of Massachusetts Lowell (UML), where she teaches Developmental Biology and Comparative Vertebrate Embryology. Prior to arriving at UML, she trained at King’s College London and the University of California San Francisco. Dr. Fish has been researching the roles of SATB2in development since 2008 using animal models of disease. Her research involves in vivo assays (in the mouse model system) and in vitro studies on osteoblasts (bone cells) and neurons. Additionally, through involvement in the SATB2 Foundation, Dr. Fish’s lab is using SAS patient-derived induced pluripotent stem cells to further investigate disease mechanisms and treatments.

Stephan Sanders
FamiliesSCN2A Foundation
Dr. Sanders trained as a pediatric physician in the UK before undertaking a PhD and postdoctoral research position at Yale. He is now an Assistant Professor at UCSF in the Department of Psychiatry. His research focuses on using genomics and bioinformatics to understand the etiology of developmental disorders, such as Autism Spectrum Disorder (ASD), using these methods to identify many candidate genes for ASD. His lab has helped understand the role of SCN2A mutations in human disorders. In collaboration with Dr. Kevin Bender, he showed that loss-of-function variants that reduce neuronal excitability lead to ASD and developmental delay, while gain-of-function variants that increase neuronal excitability lead to infantile seizures (Ben-Shalom et al. Biological Psychiatry 2017). The loss-of-function mutations also impact back-propagation of the action potential and synaptic plasticity (Spratt et al. BioRxiv 2018), potentially opening an avenue to future therapeutics, as discussed in the review written in collaboration with the SCN2A family group and numerous researchers (Sanders et al. Trends in Neuroscience 2018).Dr. Sanders is the Director of the Psychiatry Department Bioinformatics Core (PsychCore) at UCSF, a member of the SPARK medical genetics committee, the Autism Science Foundation Scientific Advisory Board, and an Assistant Editor for the Journal of Neurodevelopmental Disorders.

Rocío Acuna Hidalgo
SETBP1 Society
Rocío Acuña Hidalgo, MD/Ph.D. is a medical doctor and human geneticist based in Berlin, Germany. Her expertise lies in bringing together Next Generation Sequencing (such as exome sequencing) and molecular biology to unravel the molecular mechanisms of mutations that lead to human disease. Rocío completed her Ph.D. at Radboud University Medical Center, where she studied the molecular effects of SETBP1 mutations in Schinzel-Giedion syndrome using a combination of in silico and in vitro models. She did postdoctoral research at the Max Planck Institute for Molecular Genetics in Berlin, working on novel technologies to improve the diagnosis of patients with genetic disorders. She then co-founded Nostos Genomics, a company combining software and molecular biology approaches to improve the diagnosis of patients with genetic diseases. She currently serves as the Chief Technological Officer at Nostos Genomics.
Steven Gray
SLC6A1 Connect
Dr. Steven Gray earned his Ph.D. in molecular biology from Vanderbilt University in 2006, and performed a postdoctoral fellowship focusing on gene therapy in the laboratory of Jude Samulski at UNC Chapel Hill. He is currently an Associate Professor in the Department of Pediatrics at the University of Texas Southwestern Medical Center. Dr. Gray’s core expertise is in AAV gene therapy vector engineering, followed by optimizing approaches to deliver a gene to the nervous system. His major focus is in AAV vector development to develop vectors tailored to serve specific clinical and research applications involving the nervous system. His research focus has also included preclinical studies to apply these reagents toward the development of treatments for neurological diseases. Currently these include preclinical studies for Rett Syndrome, Giant Axonal Neuropathy (GAN), Tay-Sachs, Krabbe, AGU, and Batten Disease, and have expanded into human clinical studies to test a gene therapy approach for GAN. Dr. Gray has published over 50 peer-reviewed papers in journals such as New England Journal of Medicine, Molecular Therapy, Nature Biotechnology, Gene Therapy, and The Proceedings of the National Academy of Sciences. He also has 3 pending patents. His research is funded by the National Institute for Neurological Disorders and Stroke, as well as numerous large and small research foundations. Dr. Gray was recently recognized with the 2016 Healthcare Hero award by the Triangle Business Journal, and his work on GAN was featured in a story by the CBS National Evening News in 2015.

Jing-Qiong (Katty) Kang, MD, PhD
Member At Large

Dr. Jing-Qiong (Katty) Kang is a physician scientist by training and now an associate professor in the Vanderbilt University Department of Neurology. She is also a faculty member in Vanderbilt Brain Institute, Vanderbilt Kennedy Center and Pharmacology at Vanderbilt University School of Medicine. Dr. Kang received her MD/PhD degree from Tongji Medical University, China, and is a neurologist specialized in epilepsy. Prior to that, she worked at Tongji Hospital. She joined Department of Neurology at in the Wayne State University in August 2001 to study neurodegeneration before she joined Dr. Robert Macdonald’s lab at Vanderbilt University Medical Center in 2003.

Dr. Kang has been invited to present her work in multiple institutes and conferences nationally and internationally. Most recently, she has spoken at American Epilepsy Meeting (AES), Fukuoka University Medical School, Case Western Reserve University, Beijing Tiantan Neurosurgery Summit. She has been the chair for Basic Mechanisms and Neuroscience symposium at the AES meeting from 2015-2018. Dr. Kang is an award recipient of Citizens United for Research in Epilepsy (CURE), (formerly known as IDEA-League), Dravet syndrome foundation (DSF) and National Institute of Neurological Disorders and Stroke (NINDS) and SLC6A1 Connect.

Dr. Kang’s current research centers around using cell models including patient derived induced pluripotent stem cells (iPSCs) and genetically modified mouse models to understand the role of GABAA receptors and GABA transporters in normal development and diseased conditions especially epilepsy and treatment development. Her lab has partnered with industries to develop treatment options and translate the lab discoveries to patient care for these rare brain diseases.

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