Boston Children's Hospital is monitoring the developing situation with lead contamination in some Boston Public Schools. Please contact your primary care physician if you have any concerns about your child.
Boston Children’s Hospital está monitoreando la situación de la contaminación por plomo en algunas escuelas públicas de Boston. Por favor, póngase en contacto con su médico primario si usted tiene alguna preocupación acerca de su hijo.
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The Neurogenetics Program at Boston Children's provides an innovative approach to genetic disorders of the nervous system with a unique combination of specialized clinical care and dedicated basic science and translational research.
Boston Children's neurogenetics team of physicians, nurses, and genetic counselors provide specialty clinics tailored to the individual needs of the unique patients we serve. Our researchers work diligently to study areas of neurogenetics that will directly contribute to our understanding of these diseases and help us continually improve the clinical care we are able to provide.
The physicians who are involved with the clinics within the Neurogenetics Program all devote their time to clinical and/or translational research.
CDKL5 Clinic (Heather Olson, MD)
The CDKL5 Center of Excellence at Boston Children’s brings together a multispecialty team dedicated to the care and evaluation of children with CDKL5 disorder, a genetic epilepsy syndrome and neurodevelopmental disorder. We collaborate closely with the International Foundation for CDKL5 Research (IFCR).
Mitochondrial Program (Irina Anselm, MD)
Within the Mitochondrial Program we offer an experimental medication, dichloroacetate (DCA), to patients whose mitochondrial disease has caused lactic acidosis, a condition in which there is too much lactate in the blood and spinal fluid. Children’s is one of only a few institutions in the United States where the use of DCA is approved.
The Engle Laboratory (Elizabeth Engle, MD)
The Engle lab is dedicated to study of genetic eye movement disorders which can cause both visual impairment and cosmetic differences. Through this research, the lab has identified and characterized a variety of different eye movement disorders and discovered the genes that cause them. The lab combines clinical, genetic, and molecular biological approaches to the study of these disorders.
The Sahin Laboratory (Mustafa Sahin, MD, PhD)
The Sahin lab is dedicated to understanding the neurological complications, such as seizures, autism, and intellectual disability, which are found in Tuberous Sclerosis (TSC), a genetic condition. Currently, while many children with TSC develop these neurologic complications, the cause is not fully understood. The Sahin lab also focuses on spinal muscular atrophy (SMA) which is a neurogenetic disorder caused by a dysfunctional SMN protein. Dr. Sahin is focusing on the role of SMN protein in the working of the nervous system to gain a better understanding of this disease.
Pediatric Neuromuscular Clinical Research (PNCR) Network (Basil Darras, MD)
This project, funded by the SMA Foundation, seeks to develop the necessary tools and facilities for efficient phase I and II clinical trials in patients with spinal muscular atrophy (SMA). These trials will be aimed at testing candidate drugs and using innovative clinical trial designs to minimize study duration and sample size. These initial studies aim to improve the quality of clinical trials for patients and SMA and maximize the research that is able to be performed for these patients.
Neurofibromatosis Clinical Trials Consortium (Nicole Ullrich, MD)
Boston Children’s Hospital is one of nine sites in the United States that is a part of this consortium. Dr. Ullrich and the rest of the team at BCH work with other physicians and researchers across the country to develop new therapies and treatments for patients with a condition called Neurofibromatosis type 1 (NF1). There are currently three clinical trials taking place at Boston Children’s aimed at treating different symptoms of NF1.
Epilepsy Genetics (Annapurna Poduri, MD)
The Epilepsy Phenome/Genome Project (EPGP) is an international consortium that has come together with the aim of identifying the underlying genetic basis of epilepsy to help shape the future of clinical care for individuals with epilepsy. Dr. Poduri and the Epilepsy Genetics Program also work on a variety of other projects aimed at gene discovery for various types of childhood epilepsy, including a project for Ohtahara syndrome.
Core Repository for Neurological Disorders (Elizabeth Engle, MD)
The Repository Core for Neurological Disorders is a database of medical information and biological samples, such as a blood or saliva sample. We are collecting medical information and samples from children and their families for scientists who will study these disorders in the future. The goal of the research is to increase our understanding of neurological conditions, specifically their causes and treatments.
The future of pediatrics will be forged by thinking differently, breaking paradigms and joining together in a shared vision of tackling the toughest challenges before us.”