COMBINED BRAIN - Key Persons
Job Titles:
- Staff Scientist at St. Jude Children 's Research Hospital
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).
Job Titles:
- Member at Large
- Professor of Population Health Sciences
Dr. Reeve is a Professor of Population Health Sciences and Pediatrics within the Duke University School of Medicine where he directs the Center for Health Measurement. He is an internationally-recognized psychometrician whose work focuses on the quality of care for patients of all ages with chronic diseases. Dr. Reeve's areas of expertise are in developing patient-reported questionnaires using qualitative and quantitative methodologies and the integration of patient-reported data in research and healthcare delivery to inform decision-making. From 2000 to 2010, Dr. Reeve served as Program Director of the NIH's National Cancer Institute where he was integral in developing their Patient-Reported Outcomes Measurement Information System (PROMIS) initiative and oversaw a program of health-related quality of life research. From 2010-2017, he served as Professor of Health Policy and Management at the Gillings School of Public Health at the University of North Carolina at Chapel Hill where he successfully secured NIH and PCORI funding to design and validate PRO measures. Currently, Dr. Reeve is PI on an NIH-funded longitudinal study to validate PROMIS measures in children with sickle cell disease, asthma, nephrotic syndrome and cancer and another for children with cancer, rheumatic disease, or inflammatory bowel disease. Also, he is PI on a NIH-funded study to design and validate a system (i.e., PRO-CTCAE) for children to self-report symptom toxicities experienced while undergoing cancer treatment.
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.
Dr. Jennifer Bain is a child neurologist at Columbia University. She is an assistant professor of neurology in the Division of Child Neurology. Dr. Bain sees patients in her practice with neurodevelopmental disabilities, including developmental delays, intellectual disability and autism spectrum disorders. She enjoys integrating current research in her clinical practice and studying the genetic findings associated with children's diseases.
Job Titles:
- Assistant Professor at the University of Massachusetts Lowell
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.
Job Titles:
- Physician
- Scientist
- 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), Dravet.org (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.
Job Titles:
- Assistant Clinical Professor
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.
Leena Mewasingh is a consultant pediatric neurologist in the UK since 2005. She works at Imperial College Healthcare NHS Trust in West London since 2007 and also holds an honorary senior lecturer post at Imperial College. Her main clinical interests are childhood epilepsies, neuroinflammatory disorders and is fascinated by the complex interplay between genetics and various neurological disorders. She has seen an increasing understanding of previously less well understood neurological and complex neurodevelopmental disorders thanks to the advances in clinical genetics and in genotype-phenotype correlation for some of these conditions. She has been involved in recruiting patients for the 100,000 genomes project in the NHS.
Job Titles:
- Professor of Pharmacology and Chemical Biology at the Emory University School of Medicine
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.
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.
Dr. Zarate obtained his Medical degree from the Universidad Industrial de Santander in Colombia. He completed a residency in Pediatric Human Genetics at Cincinnati Children's Hospital. After working at the Greenwood Genetic Center as an Assistant Clinical Geneticist, Dr. Zarate joined Arkansas Children's Hospital in 2013 as faculty. Dr. Zarate participates in the evaluation and treatment of individuals of all ages with birth defects, intellectual disabilities and other genetic disorders. He is also involved with teaching medical students, residents, and genetic counseling students. Areas of particular interest include connective tissue disorders and craniofacial anomalies. Dr. Zarate is certified by the American Board of Medical Genetics (2009) and the American Board of Pediatrics (2008). He is a Fellow of the American College of Medical Genetics and an active member of the American Society of Human Genetics, the American Medical Association, and the American Academy of Pediatrics.
Elizabeth Berry-Kravis MD, PhD is a Professor of Pediatrics, Neurological Sciences, and Biochemistry at Rush University Medical Center in Chicago. She established the Fragile X Clinic and Research Program in 1991, through which she provides care to over 600 patients with fragile X syndrome (FXS). She has studied medical issues, epilepsy and psychopharmacology in FXS, and has been a leader in translational research in FXS including development of outcome measures and biomarkers, natural history studies, newborn screening, and particularly clinical trials of new targeted treatments in FXS, for which she has been PI or Co-PI of 16 trials, both industry and investigator sponsored. Her laboratory studies the cellular role of fragile X mental retardation protein (FMRP), relationship between FMRP and clinical function, and optimization of genetic testing methods. More recently she has expanded clinical and translational work to other neurodevelopmental disorders including autism spectrum disorders, and single gene models of ASD in addition to FXS, including Phelan McDermid syndrome, Rett syndrome and Angelman syndrome. She also is working on translational research in rare neurogenetic disorders including Niemann-Pick type C, Battens disease, pantothenate kinase-associated neurodegeneration, and creatine transporter deficiency. She is on Advisory and/or Review Boards for the FRAXA Research Foundation and the National Fragile X Foundation, the Phelan McDermid Syndrome Foundation and Angelman Syndrome Foundation. She has received the NFXF Jarrett Cole Clinical Award, FRAXA Champion Award, NFXF William and Enid Rosen Research Award, March of Dimes Jonas Salk Research Award, American Academy of Neurology Sidney Carter Award in Child Neurology and John Merck Fund Sparkplug Award.
Ingo Helbig, MD, is a pediatric neurologist in the Division of Neurology at Children's Hospital of Philadelphia. Dr. Helbig went to medical school in Heidelberg and Mannheim, Germany, and Lexington, Kentucky, USA. He trained at the Epilepsy Research Centre, Melbourne, Australia, and was Assistant Professor at the Department of Neuropediatics, Kiel, Germany. Between 2011 and 2015, he co-headed the EuroEPINOMICS-RES Consortium, the European counterpart of the NIH-funded Epi4K consortium involved in collaborative genomic studies to identify genes for human epilepsies. He was part of the Genetics Commission of the International League Against Epilepsy (ILAE) from 2014-2017 and currently leads the Epilepsiome Task Force of the ILAE Genetics Commission, which aims at increasing genetic literacy in the epilepsy community. After heading the epilepsy genetics group at the University of Kiel, Germany, he transferred to the Children's Hospital of Philadelphia (CHOP) in 2014 and became faculty in the Division of Neurology in July 2017. The main focus of his prior work was to understand how genetic changes lead to severe epilepsies in both children and adults, contributing to several new gene findings in the field in the last seven years including GRIN2A, CHD2, KCNA2, HCN1, and DNM1. Dr. Helbig uses clinical and research expertise to curate epilepsy-related genes in variants within his leadership role of the Epilepsy Clinical Domain Working Group.
Jane Larkindale, DPhil, is the Executive Director for both the Duchenne Regulatory Sciences Consortium (D-RSC) and the Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP) at the Critical Path Institute in Tucson, Arizona. Larkindale was a key leader in launching RDCA-DAP in September 2019. She launched D-RSC in 2005 and has been its leader since inception. She is a molecular biologist by training, having completed her D.Phil. (Ph.D.) in the department of plant sciences at Oxford University in 2001, which she attended on a Rhodes Scholarship. In the laboratory, she did research in areas as diverse as molecular biology, biochemistry, genomics, plant science, medical physics, marine biology, and industrial chemistry. In the course of this research, she published numerous original research papers and review articles in several disciplines. Her experience in drug development and neuromuscular diseases started at the Muscular Dystrophy Association, an international non-profit covering over forty neuromuscular diseases, where she ended as Vice President for Research. Dr. Larkindale was instrumental in the start-up of MDA Venture Philanthropy (MDA's drug development arm), which invested in 21 drug development projects, of which 10 entered clinical trials, and several of which have been licensed by large pharmaceutical companies. After leaving MDA, Dr. Larkindale started a consulting company in the area of drug development for rare neuromuscular diseases and worked for the Friedreich's Ataxia Research Alliance, developing biomarker and patient reported outcomes programs and working on a new patient registry.
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.
Julie Eisengart, PhD, LP, is a pediatric neuropsychologist who specializes in complex medical care, pre and post M Health Fairview Voyager Pediatric Specialty Clinic. Her research interests explore natural histories and treatment outcomes of rare diseases involving the central nervous system and lysosomal storage disorders. Dr. Eisengart is also an assistant professor in the Department of Pediatrics and faculty member in the Division of Clinical Behavioral Neuroscience and Center for Neurobehavioral Development at the University of Minnesota Medical School.
Kim Goodspeed is a pediatric neurologist. She is an Assistant Professor and the Dedman Family Scholar in Clinical Care in the Department of Pediatrics at UTSW. Dr. Goodspeed went to Medical School at UT Health Science Center at Houston, and completed residencies in Pediatrics and Neurodevelopmental Disabilities at UT Southwestern/Children's Medical Center. Dr. Goodspeed has won many awards. She has published studies on Pitt-Hopkins and is actively working on studies of SLC6A1-related disorders.
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.
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.
I am a pediatric neurologist at Boston Children's Hospital specializing in neurogenetics. My 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. Most recently, my work has focused on determining neuroimaging correlates of cognition and behavior in Phelan-McDermid Syndrome and Tuberous Sclerosis Complex, two developmental synaptopathies associated with a high prevalence of autism and intellectual disability. At Boston Children's Hospital, I provide care to children in a variety of neurodevelopmental and neurogenetics clinics. I take part in the Developmental Neurogenetics Program, which specializes in the diagnosis and management of genetic disorders associated with neurodevelopmental disabilities. Within this program, I help see patients in our multidisciplinary Phelan-McDermid Syndrome Clinic and PTEN Clinic, whose goals include optimizing long-term neurodevelopmental outcomes and coordinating specialty care across multiple disciplines. I also evaluate and treat patients in our Cerebral Palsy Diagnostic Program, which strives to diagnose genetic disorders presenting as cerebral palsy. Dr. Srivastava serves as an expert for the Department of Neurology for Boston Children's Hospital Precision Medicine Service.
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.
Thomas Frazier, Ph.D., joined Autism Speaks in March 2017 as chief science officer. He is responsible for the science portfolio, including grantmaking, the MSSNG genomic research project and the Autism Care Network. As a clinical psychologist, Dr. Frazier has been involved for 15+ years in evaluation, treatment and research focused on individuals with autism. Prior to joining Autism Speaks, he was the director of the Cleveland Clinic Center for Autism and an assistant professor of pediatrics at the Cleveland Clinic Lerner College of Medicine. Over the past decade, Dr. Frazier has published more than 130 peer-reviewed papers and conducted numerous conference presentations. His research has focused on improving autism identification; developing and studying new treatment approaches; creating and refining measures for tracking autism symptoms and quality of life in individuals and families affected by autism; and translational studies of a genetic sub-group of individuals with autism and phosphatase and tensin homolog (PTEN) mutations. Dr. Frazier received his undergraduate degree magna cum laude in psychology from John Carroll University, in University Heights, Ohio, and completed both his master's and doctoral degrees in clinical psychology at Case Western Reserve University. His postgraduate training includes an internship in clinical neuropsychology at Ann Arbor VA Medical Center and one year of fellowship in clinical neuropsychology at The Cleveland Clinic's Department of Psychiatry and Psychology, Section of Neuropsychology. He is based in Cleveland. He and his wife have two children, one of whom has autism.