IFCR’s Medical Scientific Advisory Board
Tim Benke, MD, PhD
Dr. Tim Benke is the Ponzio Family Chair in Neurology Research and Professor of Pediatrics, Pharmacology, Neurology, and Otolaryngology at University of Colorado School of Medicine.
His lab studies the function of synapses, the primary means of communication between neurons in the brain. Discoveries include mechanisms for synaptic changes that are likely associated with learning and memory. Research is directed at discovering how synapses change with development and following seizures. Our results are specifically directed to help prevent and treat the effects of early-life seizures (ELS), which can include autism, learning impairment and epilepsy.
We focus primarily on the hippocampus in rodents using direct observations of synaptic function with field recordings and whole-cell patch clamp measurements of synaptic events in living brain slices. Western-blot techniques and immunohistochemistry are used to probe protein expression and localization. Pharmacological manipulations are added to determine potential therapies. We use in vivo behavioral techniques to further confirm and advance our translational findings back to the bedside.
Outside of the lab, clinical activities and projects in the Neurosciences Institute at Children’s Hospital Colorado run intellectually in parallel. We are interested in determining the molecular basis and natural history of autism, epilepsy and intellectual disability. We focus on Rett syndrome (allMECP2 related disorders), CDKL5 deficiency syndrome, GRIN disorders, infantile spasms and Down syndrome. All of these disorders can be associated with autism, epilepsy and intellectual disability. Additional efforts focus on the diagnosis of neurogenetic disorders in patients with autism, epilepsy and intellectual disability.
Read our Spotlight on Tim Benke.
Kristina Cotter, MS, PhD, CGC
Kristina Cotter is the Research Director at RDMD. She is also a genetic counselor and molecular biologist. Her interests are rare diseases, real-world evidence, therapeutic development, and patient advocacy.
Read our Spotlight on Kristina Cotter.
Helen Leonard, MBChB, MPH
Helen Leonard is a Principal Research Fellow at the Institute, Associate Professor at The University of Western Australia and has been awarded a second NHMRC Senior Research Fellowship.
For twenty years her clinical practice primarily involved the management of children and adults with intellectual disability. Working in this role she saw the major need for epidemiological, clinical and multidisciplinary research in this area. Consequently, she established a population-based intellectual disability database in Western Australia, which, with its linkage to other WA population-based databases, is providing extremely valuable ongoing research output. She is also a member of an exciting and innovative autism registry collaboration, which was established with funding from the NIH as a “virtual and global” Autism Centre of Excellence and which has the infrastructure to undertake pooled analyses of international data comprising over 2.5 million births and nearly 34,000 cases of autism.
In 1992, she set up the internationally unique population-based Australian Rett Syndrome Database and has maintained this register since that time. In 2002, she established the International Rett Syndrome Foundation Phenotype Database, InterRett, and, in 2012, the International CDKL5 Disorder Database.
Helen’s research has mainly centered around child disability but has been broad in scope covering both common and rare conditions and using rigorous epidemiological methods including cohort studies to describe prevalence, incidence, life expectancy and natural history as well as qualitative methods, where applicable, to explore impacts for those affected and their families. She also has an interest in perinatal epidemiology, initially developed because of the association between perinatal factors and the developmental outcomes of the offspring but now expanded to include topics such as preterm birth, stillbirth and interpregnancy intervals, all of which have been investigated using population-based linked data. Her program of research and output remain on an upward trajectory with 286 publications since 1998, including 188 since 2008 and 41 since early 2017. Her articles are well cited (e.g. total citations 6459 with 848 in 2016 (Scopus)) with an h-index of 42.
Alysson R. Muotri, Ph.D
University of California San Diego, School of Medicine
Professor of Pediatrics
Professor of Cellular & Molecular Medicine
Director of the UCSD Stem Cell Program
Dr. Muotri earned a BSc in Biological Sciences from the State University of Campinas in 1995 and a Ph.D. in Genetics in 2001 from University of Sao Paulo, in Brazil. He moved to the Salk Institute as Pew Latin America Fellow in 2002 for a postdoctoral training in the fields of neuroscience and stem cell biology. He has been a Professor at the School of Medicine, University of California in San Diego since late 2008. His research focuses on modeling neurological diseases, such as Autism Spectrum Disorders, using human induced pluripotent stem cells. His lab has developed several techniques to culture human neurons and glia for basic research and drug-screening platforms. He has received several awards, including the prestigious NIH Director’s New Innovator Award, NARSAD, Emerald Foundation Young Investigator Award, Surugadai Award from Tokyo University, Rock Star of Innovation from CONNECT, NIH EUREKA Award among others.
Read our Spotlght on Alysson Muotri.
Rebecca J. Schultz PhD, RN, CPNP
Dr. Schultz received her PhD in Nursing Science from Texas Woman’s University in Houston, Texas and her Master of Science in Nursing from the University of Texas, Graduate School of Biomedical Sciences in Galveston, Texas. She is an Assistant Professor of Pediatric Neurology and Developmental Medicine at Baylor College of Medicine and Pediatric Nurse Practitioner in the Comprehensive Epilepsy Program, Blue Bird Circle Clinic for Pediatric Neurology at Texas Children’s Hospital and Associate Professor at Texas Woman’s University, College of Nursing.
She is a nurse scientist and pediatric nurse practitioner with 30 years’ experience caring for youth with neurological conditions and their families. She was the principal nurse practitioner in the Blue Bird Circle Rett Center from 1988 until 2001 then joined the Comprehensive Epilepsy Program at Texas Children’s Hospital where she has directed the ketogenic diet program for the past 17 years and been a principle investigator or co-investigator in 25 research studies. Her research interests include the psycho-social aspects of epilepsy in youth, efficacy and side effects of the ketogenic diet, and the transition of adolescents with epilepsy from pediatric to adult care. She serves as the medical advisor for the Epilepsy Foundation Houston HRSA grant Strategic Approaches to Improving Access to Quality Health Care for Children and Youth with Epilepsy.
Dr. Schultz’s awards include the 2017 American Epilepsy Society Dreifuss Lecturer, the 2017 Nurse Practitioner Excellence in Child Neurology Nurses award, the Excellence in Nursing Practice Award from Sigma Theta Tau in 2014, Texas Nurses Association Outstanding Nurse of 2008 Award, and the Kiffen Penry Top Scholar award in 2003.
Dr. Schultz is actively involved in the American Epilepsy Society where she served as chair of Professionals in Epilepsy Care and served on the Scientific Program Committee and the Student & Resident Education Subcommittee. She is an active member of the National Epilepsy Foundation of America, Professional Advisory Board, and the Child Neurology Foundation, Transition Project Advisory Committee. Additionally, she serves on the American Academy of Neurology Epilepsy Quality Measure Development Work Group, and the Board of Directors of the Association of Child Neurology Nurses.
Dr. Bernhard Suter, MD
Dr. Suter underwent post-graduate training at Harvard in Developmental Neuroscience at Massachusetts General Hospital. He trained in Child Neurology at Texas Children’s Hospital and Baylor College of Medicine. Currently, he is the Director of the MECP2 Duplication Clinic and the Medical Co-Director of the Blue Bird Circle Rett Center at Texas Children’s Hospital. This Rett Center specializes in the treatment of children with Rett syndrome and related disorders, including CDKL5 syndrome.
He is board-certified in Child Neurology and Epilepsy. He has both basic and clinical translational science experience and has published a number of publications pertaining to epilepsy as well as Rett related disorders. He has a special interest in gait analysis and movement disorders.
He is a scholar of the NIH Rare Diseases Clinical Research Network and is also a co-investigator of the NIH sponsored Rett and related disorders Natural History Study, which includes CDKL5.
Zhaolan (Joe) Zhou, Ph.D.
Dr. Zhou is an Associate Professor of Genetics at the University of Pennsylvania Perelman School of Medicine, and Director of the Preclinical Models Core at the Intellectual and Developmental Disabilities Research Center (IDDRC) at the Children’s Hospital of Philadelphia. After receiving a B.S. in bioengineering from Nankai University and a Ph.D. in molecular and cellular biology from Harvard University, he carried out his postdoctoral training in neuroscience at Harvard Medical School and Children’s Hospital of Boston. His research focuses on understanding the pathophysiology of genetic disorders that impact brain development and function. These include Rett Syndrome and CDKL5 Deficiency with monogenic causes, Asperger Syndrome with complex genetics, and Major Depressive Disorder with environmental insults. As a recipient of the NIH BRAINS award and a Pew Scholar in biomedical sciences, Dr. Zhou has led a research team that developed the first lines of mouse models recapitulating human genetic mutations in Rett Syndrome and CDKL5 Deficiency, and engineered genetically modified mice to interrogate the genetic basis of Asperger Syndrome and environmental stress-related epigenetics in the brain. Through a combination of genetic, genomic, physiological, and behavioral approaches, the Zhou laboratory aims to gain pathophysiological insights into genetic disorders of interest, identify robust and quantitative biomarkers, and uncover new therapeutic avenues to improve treatment for patients.
Read our Spotlight on Zhaolan (Joe) Zhou.