Child Neurology PERF Shields Grant
The PERF Shields Grant supports translational or clinical research by a child neurologist or developmental pediatrician early in his/her academic career. The selected investigator will receive a $100,000 grant of $50,000 per year for two years. The Shields Grant is supported by the Pediatric Epilepsy Research Foundation (PERF).
- The applicant must be a junior faculty member who has developed clinical research skills and has a plan for further development of that research or has basic science research skills related to child neurology and who has a plan to translate the new knowledge into clinical care for children with neurologic diseases.
- The Shields Grant must have a clinical research /patient care component.
- The applicant is a legal resident of the United States or Canada
- The applicant is a Junior or Active member of the Child Neurology Society.
- Candidates are NOT disqualified if they have received NIH funding.
- A pre-application is no longer required.
The 2018 application period is now closed. The application submission deadline was April 1, 2018. Awardees will be announced in May. Click here for submission procedures.
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Current and Past Grantees
2017 Shields Research Grant Recipient
Melissa Walker MD, PhD
Massachusetts General Hospital
A Novel, Single Blood Draw Test for Mitochondrial Disease
Mitochondria are the energy-producing compartments found in almost every cell. Mitochondrial dysfunction causes a group of often devastating multisystem genetic disorders. Neurologic disease, including epilepsy, developmental delay, hearing loss, vision loss, neuropathy, and myopathy is a common feature of mitochondrial disease. While individual disorders are rare, mitochondrial diseases as a group are estimated to affect 1 in 5,000 live births. Because mutations in over 1200 different genes can cause mitochondrial disorders with many different symptoms, diagnosing these diseases is very difficult; there is no single diagnostic test of mitochondrial function. Currently used techniques require invasive biopsy procedures and highly technical procedures which are performed and interpreted only at select centers. The resultant complexity in diagnosis poses a significant impediment to patient care and research.
Patients report significant stress and increased medical costs resulting from what is often a protracted diagnostic odyssey. Uncertainty in diagnosis additionally limits our ability to develop and test therapies for a group of potentially devastating diseases for which no certified treatment currently exists. A cell-based assay of mitochondrial function that can be performed using tissue obtained by relatively non-invasive techniques at any standard clinical laboratory is therefore needed.
Dr. Walker hypothesizes that blood cells obtained from a routine peripheral venous blood draw can be subjected to metabolic stresses to identify patients with mitochondrial dysfunction. The support provided by the Child Neurology Foundation Shields Grant enables studies of response to metabolic stress in blood cells from patients and healthy controls. Based on observed differences, Dr. Walker aims to development an assay that can be of a simple, broadly implementable readout of this response that can be used to diagnose mitochondrial disease in any standard clinical laboratory.
2016 Shields Research Grant Recipient
Peter Tsai MD, PhD
University of Texas Southwestern Medical Center
Cerebellar-Cortical Circuits in Autism Spectrum Disorders.
Autism is a prevalent disorder that affects nearly 1 in 68 children in the United States. Despite the high prevalence, the underlying causes continue to be poorly understood. Recent studies are emerging, however, that point to an important role for the cerebellum, a part of the brain that until recently had been believed to only have roles in regulating movement and controls of motor function. My lab and others have recently demonstrated that cerebellar dysfunction is sufficient to generate autistic behaviors in autism mouse models. However, how this brain region impacts autism behaviors remains unknown. We hypothesize that the cerebellum regulates autism-related behaviors by coordinating brain circuits mediating these behaviors. The support provided by the Child Neurology Foundation Shields Grant will allow me to investigate the brain circuits regulated by the cerebellum that mediate autistic behaviors in mouse models and to then further investigate whether these circuits are similarly disrupted in children with autism spectrum disorders. We will utilize a number of cutting edge techniques from small animal structural connectivity MRI to targeted modulation of brain circuits in our autism models to not only define these brain circuits but also investigate whether modulation of these circuits can benefit autism behaviors in these models. Concomitantly, we will also investigate the integrity of these circuits in individuals with autism, using publically available imaging from the Autism Brain Imaging and Data Exchange (ABIDE) database. Results obtained from these studies will help me prepare further studies on the underlying etiologies of autism while also providing the foundation for developing clinical studies targeting brain circuits as a potential therapeutic strategy for individuals with autism.
2015 Shields Research Grant Recipient
Patricia Musolino, MD
Massachusetts General Hospital/Harvard Medical School
Brain Endothelial Dysfunction in Adrenoleukodystrophy
Cerebral Adrenoleukodystrophy (CALD) is an inherited devastating disease where inflammatory cells infiltrate the brain and cause progressive degeneration that leads to vegetative state or death in months to years. Unfortunately, current therapies either fail to prevent cerebral disease or carry high toxicity and mortality. The support provided by the Child Neurology Foundation Shields Grant will allow me to study how the gene defect changes brain vessel permeability allowing access of inflammatory cells to the brain using imaging in patients and laboratory tools at the bench. More specifically, the study will probe the effect of the gene (ABCD1) deficiency upon blood brain barrier integrity at both the tissue and molecular level by (1) Applying new MRI tequnique to determine if changes in permeability occur prior to lesion progression in patients with CALD (Aim 1) and; (2) Evaluating in-vitro the effects of lack of ABCD1 upon the barrier function of human brain endothelial cells (Aim 2). If validated by this study, this approach sets forth a successful strategy to: (1) identify which patients are at risk of developing cerebral disease; (2) monitor and improve current treatments and; (4) develop an assay to screen for novel therapeutic targets. Results obtained will also help me to prepare future clinical research studies as well as an application to an NINDS Exploratory Trials R01. My passion for patient care and commitment to rigorous science ensures that my research will embrace new ideas and technologies in a highly interdisciplinary environment.
2014 Shields Research Grant Recipient
Joana Osorio, MD
University of Rochester
Cell-based therapy for Pelizaeus-Merzbacher disease
This research project aims to develop a cell-based treatment strategy for Pelizaeus-Merzbacher disease (PMD), a severe pediatric disorder of myelin caused by mutations in the proteolipid protein gene (PLP1). By transplanting genetically corrected cells from affected patients in a murine model of PMD, I will test their ability to rescue the phenotype and produce normal myelin. I will use induced pluripotent stem cells from patients with duplications and missense mutations in the PLP1 gene, correct the mutations by using gene-editing techniques and subsequently differentiate those to oligodendroglial fate. After intracerebral transplantation in a murine model of PMD, I will evaluate their motor performance and posteriorly the histology of engrafted cells. If this study is successful, it will provide a proof of principle that autologous cell transplantation can be a feasible strategy for treatment of congenital disorders of myelin.
My career goal as a clinician-scientist is to bridge basic research and clinical work in order to establish new treatment strategies for pediatric white matter disorders for which no cure is presently available. The Shields Award represents an important step towards this goal, by supporting my research project that will focus on Pelizaeus-Merzbacher disease (PMD). Success of this pre-clinical study will advance clinical translation of cell-based therapies that can be applied not only to PMD but potentially to other leukodystrophies.
2013 Shields Research Award
Hannah Tully, MD
Seattle Children’s Hospital/Seattle Children’s Research Institute
Pathogenesis and Clinical Implications of Primary Pediatric Hydrocephalus
One in a thousand newborn infants is diagnosed with hydrocephalus before they even leave the hospital, which can leave their families blindsided. My research proposal seeks to address basic questions about hydrocephalus in children: why it happens, how best to treat it, and what it means for a child’s future. There are three parts to my project: First, I will use MRI-based techniques to explore the relationship between the shape of a child’s brain and the way that cerebrospinal fluid and blood flow within and around it. Second, I will collect detailed clinical information about how children with different types of hydrocephalus develop physically and cognitively, and how they respond to various types of surgery. Finally, I will use these results to guide genomic investigations of the factors that give rise to different types of hydrocephalus, and to differences in clinical outcome. The goal of my work is a deeper understanding of why hydrocephalus develops, a better grasp of its clinical implications, and a new sense of how to tailor treatment to each individual child.