研究|Overview
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.
波士顿儿童的神经源性学队的医生，护士和遗传辅导员提供针对我们所服务的独特患者的个人需求量身定制的特殊诊所。我们的研究人员努力研究神经源性的地区，直接有助于我们对这些疾病的理解，并帮助我们不断改进我们能够提供的临床护理。
参与神经源性学计划内诊所的医生都将其时间致力于临床和/或翻译研究。
CDKL5诊所（Heather Olson, MD)
波士顿儿童的CDKL5卓越中心汇集了一支多专业团队，致力于CDKL5疾病的儿童进行护理和评估，遗传癫痫综合征和神经发育障碍。我们与国际CDKL5研究基金会密切合作（IFCR）。
Mitochondrial Program（Irina Anselm, MD)
在线粒体计划中，我们提供实验药物，二氯乙酸酯（DCA），对线粒体疾病引起乳酸中毒的患者，一种血液和脊髓液体过多的乳酸的病症。儿童是美国批准使用DCA的少数机构之一。
恩格尔实验室（伊丽莎白恩格尔，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.
Sahin实验室（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.
儿科神经肌肉临床研究（PNCR）网络（Basil Darras，MD）
This project, funded by theSMA Foundation旨在制定脊髓肌萎缩患者的有效阶段I和II临床试验的必要工具和设施。这些试验将旨在测试候选药物，并采用创新的临床试验设计，以最大限度地减少研究持续时间和样本量。这些初步研究旨在提高患者和SMA的临床试验质量，并最大限度地提高这些患者能够进行的研究。
Neurofibromatosis Clinical Trials Consortium（妮可Ullrich，MD）
欧宝彩票平台波士顿儿童医院是美国九个网站之一，这是本联盟的一部分。Ullrich博士和BCH的其他团队与全国各地的其他医生和研究人员合作，为患有神经纤维素病症1（NF1）的病症的患者开发新的疗法和治疗方法。目前，波士顿儿童目前有三项临床试验，旨在治疗NF1的不同症状。
癫痫遗传学（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.
phelan-mcdermid综合征（PMS）
波士顿儿童医院的Phelan McDermid综合征（PMS）诊所结合了专门治疗与Shank3突变和缺失相关的各种并发症的医生的专业知识。Mustafa Sahin，MD，PHD，引导我们的计划并得到支持a team of pediatric specialists in Epilepsy那Genetics那Nephrology, and Ophthalmology as well as our自闭症谱中心。此外，我们的诊所正在参与多中心NIH资助的研究，旨在全面地表征Phelan-McDermid综合征的自然病史（发育突触病联盟）。
PTEN HARTOMO肿瘤综合征（PHTS）
我们在波士顿儿童医院的多学科PTEN HARTOMA肿瘤综合征（PHTS）诊所包括专门治疗儿童的专家医师，与PTEN相关综合征有关的各种并发症。我们的计划由儿童神经科医生带领Mustafa Sahin，MD，PHD那and includes Children's pediatric specialists inDermatology那Endocrinology, Gastroenterology,Genetics和肿瘤学。我们团队的每个成员都有特殊的专业知识，治疗具有PTEN突变的儿童，致力于提供协调和集中的跨学科护理。凭借进一步澄清与PTEN相关综合征的个体的临床护理指南，BCH PHTS诊所正在参与一个旨在全面地表征PTEN HTEN HARTOMO肿瘤综合征的自然历史的多中心研究，并在2017年推出治疗试验（发育突触病联盟）。
The Rett Syndrome Research Program at Boston Children’s Hospital is committed to advancing our understanding of Rett syndrome and MECP2-related disorders by running clinical trials and research studies. We are also developing innovative biomarkers that can be used to assess severity and treatment effectiveness in current and future clinical trials. In our Rett Clinic, we are dedicated to helping children and adults develop to their full potential by providing specialized medical care as well as behavioral and rehabilitative therapies. Our aim is to work with families to choose the best combination of therapies and medication to manage symptoms and to promote an environment ideal for learning and development