Eunice Kennedy Shriver National Institute of Child Health and Human Development (NIH), USA

2015

  • A new strategy to identify the genetic causes of isolated CDH
  • Advanced neuroimaging in pediatric spinal cord injury
  • Application of an efficient drug repurposing platform to identify treatments for Cornelia de Lange syndrome
  • Brain and behavior in individuals with intersex conditions
  • Combination strategies to enhance therapy for ph-like b-all
  • Decidual T cells in immune-mediated pregnancy loss
  • Delineating ephrin-b2 mechanisms in morphogenesis of the foregut
  • Development of a reliable and standardized molecular assay for fragile x protein
  • Diabetic pregnancies and gastrulation
  • Disialyl oligosaccharides as necrotizing enterocolitis therapeutics
  • Early diagnosis of neonatal infections using urine metabolomics
  • Effects of social gaze training on brain and behavior in fragile x syndrome
  • FMR1 premutation phenotypes in population-based & clinically-ascertained samples
  • Folic acid, parental mutation rates and the risk for neural tube defects
  • Genetics of hypoplastic left heart syndrome
  • Identifying molecular and cellular deficits in a human model of myelin disease
  • Improved live attenuated brucella vaccines to reduce human diseases
  • Investigating an etiological role of line-1 retrotransposition in birth defects
  • Leptin molecular regulatory mechanisms that prevent growth hormone deficiency
  • Mechanisms of cognitive deficits in dystroglycanopathies
  • Mechanisms of inflammation in cystic fibrosis and potential for reversibility
  • Microbleeds as a marker of radiation-induced brain injury in pediatric patients
  • Molecular mechanisms of intellectual disability
  • Multi-center trial of augmented sensory feedback in children with dyskinetic cp
  • Newborn screening for Mucopolysaccharidosis (mps1) pilot study
  • Non-respiratory biomarkers to diagnose and monitor response in pediatric TB
  • Novel dried blood spot mass spectrometry functional assays for lysosomal acid lipase and n-acetylgalactosamine-sulfate sulfatases for use in newborn screening
  • On-demand releasing nano-vcr for effective neuroblastoma therapy
  • Personalized whole body staging for children with cancer: a solution to the conundrum of long-term side effects from ct and pet/ct scans
  • Preterm infant susceptibility to NEC due to early intestinal microbiome function
  • Rare disease research training program
  • Regulation of primordial follicle formation and oocyte survival
  • Replisome dynamics in m tuberculosis_linking persistence to genetic resistance
  • Stimulus-driven cortical circuit deficits in a mouse model of angelman syndrome
  • Sudden infant death syndrome (SIDS) risk reduction in northern tier American and Alaskan communities safe sleep outreach project
  • Targeting system XC- for the treatment of the autism spectrum disorder subpopulations, fragile x syndrome and Phelan-mcdermid syndrome
  • The development of number processing and attention in infancy
  • The mechanism of Rett syndrome rescue by astrocytes
  • The role of srgap2 in vertebrate gastrulation and neural tube closure
  • Transcriptional control of epithelial behaviors that drive mammalian neural tube closure

2014

  • 7-dehydrocholesterol-derived oxysterols in SLOS: role and therapy
  • A cognitive test battery for intellectual disabilities (website)
  • Antiretroviral therapy in Aicardi Goutieres syndrome
  • Apnea index as an outcome measure of igf-1 treatment in Rett syndrome (website)
  • Barriers to continued provision of human milk for black mothers of vlbw infants (website)
  • Behavioral inflexibility in IDD outcome measurement
  • Biologic roles of novel axonal guidance genes in isolated GnRH deficiency (website)
  • Birth defects: moebius syndrome and related facial weakness disorders (website)
  • Brittle bone disorders consortium of the rare disease clinical research network
  • Cbpr initiative in reducing infant mortality in american indian communities (website)
  • Cell-specific role of nf-kb in necrotizing enterocolitis (website)
  • Characterization of cardiac mitochondrial dna in donors with down syndrome (website)
  • Characterizing a conditional transgenic mouse model of FSHD (website)
  • Chemical genetic dissection of hipk4-dependent hedgehog pathway activation (website)
  • Collaborative network study of airway microbiome and host responses in pediatric respiratory failure
  • Collaborative research to validate biomarkers of pediatric ARDS
  • Conditional genetics rescue of Angelman syndrome (website)
  • Creating a myelomeningocele exome variant map (website)
  • Cross-species multi-modal neuroimaging to investigate gaba physiology in Fragile X syndrome (website)
  • Defining the neurodevelopmental role of the dnab2/zc3h14 rna binding protein (website)
  • Development of a pediatric exoskeleton for gait rehabilitation (website)
  • Development of nanofludarabine for pediatric leukemia using LCP nanotechnology (website)
  • Developmental pathophysiology of synapses in a mouse model of fragile x syndrome (website)
  • Dual use therapeutics for cryptosporidiosis, toxoplasmosis, and neosporosis (website)
  • Drug delivery method for sudden sensorineural hearing loss
  • Gene imprinting and obesity, a new pig model (website)
  • Generations in families talking safe sleep (website)
  • Genetic screening and therapies for nemaline myopathies (website)
  • Genomic integrity of the x chromosome and ovary-specific autosomal gene (website)
  • Health and wellness in turner syndrome in the 21st century (website)
  • Hedgehog treatment of down syndrome: establishing mechanisms (website)
  • Human biospeciman repository – historical collections (website)
  • Human biospecimen repository (website)
  • Image-guided planning system for skull correction in children with craniosynostos (website)
  • Impact of immune changes of pregnancy on tuberculosis (website)
  • Improving participation in vector control campaigns (website)
  • Insulin and androgen interactions in the infertility of obesity (website)
  • Long-term outcomes in children with positional plagiocephaly/brachycephaly (website)
  • Manipulating cgmp pathway to impact vascular development in neonatal BPD and ROP (website)
  • Mechanism by which foxo1 regulates somatotrope differentiation and/or function (website)
  • Modulation of neonatal alveolar macrophage by CFTR mutation (website)
  • New toolkit for imaging and controlling early ciliogenesis
  • Newborn screening Pompe pilot study (website)
  • Nipbl haploinsufficiency in Cornelia de Lange Syndrome (website)
  • Novel approaches for correcting respiratory insufficiency in Pompe disease (website)
  • Phenotyping embryonic lethal knockout mice with neural crest and neural defects (website)
  • Predictive informatics monitoring in the neonatal intensive care unit (website)
  • Preventing hyperphagia in Prader Willi syndrome using an oligonucleotide (website)
  • Preclinical preparation for the boston retinal implant device
  • Probe identification by HTS for plasmodium falciparum hexokinase (website)
  • Prospective meta-analysis of oxygen saturation trials in preterm infants
  • Risk and protective factors for immune health in pediatric cancer (website)
  • Sedation strategy and cognitive outcome after critical illness in early childhood (website)
  • Single cell mapping of developmental trajectories underlying health and disease
  • Sleep-wake disturbances and physical and psychological health in adolescents with (website)
  • Technology development for rapid detection and diagnosis of metabolic disorders (website)
  • The fetal-umbilical connection: role of hypoblast/visceral endoderm (website)
  • The impact of vitamin b12 deficiency on nuclear de novo thymidylate biosynthesis (website)
  • Therapeutic potential for Prader-Willi syndrome (website)
  • Viral co-infections in cerebral malaria: preparing for clinical trials (website)

2013

  • A Bioresorbable Splint for Treating Tracheomalacia (website)
  • A Nonhuman Primate Model of Fragile X Associated Primary Ovarian Insufficiency (website)
  • An Animal Model for Human Heart-Hand Syndromes (website)
  • Analysis of MEF2 in Cortical Connectivity and Autism-Associated Behaviors (website)
  • Bridging Pediatric and Adult Biomarkers of Graft-Versus-Host-Disease (website)
  • Comparative Efficacy of Phenylbutyrate vs. Benzoate in Urea Cycle Disorders (website)
  • CYP 450-mediated CBF Dysregulation and Neurotoxicity in Pediatric Cardiac Arrest (website)
  • Detection of S-(2-succino)cysteine (2SC) as a Biomarker of Mitochondrial Disease (website)
  • Developmental regulation of neural stem cell elimination (website)
  • Direct and Quantitative Proteomic Approaches in Xenopus (website)
  • Effects of Strength Training on Bulbar Function in Amyotrophic Lateral Sclerosis (website)
  • Enhancing Safe Sleep Practices of Urban Low-Income Mothers (website)
  • Expressive Language Sampling as an Outcome Measure (website)
  • FMR 1-SLS: Improving Fragile X diagnosis using amplification-free single locus ta (website)
  • Fragile X pre-mutation and ovarian insufficiency (website)
  • Genetic regulation of ovariole development in Drosophila (website)
  • Impact Of Motor Connectivity On Efficacy Of Hand Therapy In Congenital Hemiplegia (website)
  • Internet Based System for Managing Obesity in Children with Disabilities (website)
  • Intra-pulmonary aerosol delivery for intubated pediatric patients (website)
  • Iron Deficiency and Neural Tube Defects (website)
  • Mechanisms underlying Paxillin-mediated amelioration of muscle degeneration (website)
  • MIND Institute Intellectual and Developmental Disabilities Research Center (website)
  • Modulation of Neonatal Hyperoxic Lung Injury by the Aryl Hydrocarbon Receptor (website)
  • Molecular Mechanisms of Primary Microcephaly (website)
  • Motor Planning in Children with Cerebral Palsy (website)
  • Multi-modal Treatment of Fragile X Syndrome: From Cell to Child (website)
  • Nested case-control study of maternal herpes viruses in relation to gastroschisis (website)
  • Newborn Screening Translational Research Network (NBSTRN) (website)
  • Novel Probes for Studying Treatment of CNS-based Lysosomal Storage Diseases (website)
  • Novel RF Coils and k-t Space Imaging for Neonatal Chest MRI within NICUs (website)
  • Nuclear-retained long noncoding RNAs (website)
  • Peptide Immunoaffinity enriched LC-MRM-MS analysis for Cystinosis/Wilson disease (website)
  • Perinatal Assessment of At-Risk Populations (website)
  • Protein Modifications and Unfolded Protein Response in Diabetic Embryopathy (website)
  • Reversing BDNF Impairments in Rett Mice with TRPC Channel Activators (website)
  • Sedation Strategy and Cognitive Outcome after Critical Illness in Early Childhood (website)
  • Smith-Lemli-Opitz syndrome and Inborn Errors of Cholesterol Synthesis (website)
  • Stress, Parenting and Cognitive Function in Children with Sickle Cell Disease (website)
  • Testing Direct Effects of Soy Daidzein on Fragile X Phenotypes (website)
  • The CCS: A Treatment Outcome Measure for Individuals with Severe ID (website)
  • The humoral immune response to recombinant enzyme in mucopolysaccharidosis I (website)
  • Understanding severe disruptive behaviors in adolescents with fragile X syndrome (website)
  • Use of a Fragile X premutation knock-in mouse to study FXPOI (website)
  • Using Community Participation to Improve the Health System in South India (website)

 

2012

  • 7-Dehydrocholesterol-derived oxysterols in SLOS: role and therapy (website)
  • Acute vs. Delayed Iron: Effect on Red Cell Iron Incorporation in Severe Malaria (website)
  • Add Health: A Genotype and Phenotype Resource for the Global Scientific Community (website)
  • Antiviral prophylaxis to prevent perinatal transmission of HBV in Thailand (website)
  • AWARD OF BABY HUG FOLLOW UP STUDY II CLINICAL SITE (website)
  • BABY HUG FOLLOW-UP STUDY II (website)
  • BABY HUG FOLLOW-UP STUDY II – UTSW (website)
  • BABY HUG FOLLOW-UP STUDY II ) (website)
  • BABY HUG FOLLOW-UP STUDY II: SUNY CLINICAL SITE (website)
  • BABYHUG FOLLOW-UP STUDY II (website)
  • Balance and Posture in Adults with Cerebral Palsy (website)
  • BASE FUNDING NHLBI (1/10/2012 – 12/31/2016) BABY HUG FOLLOW-UP STUDY II – CLIN (website)
  • Body Composition and Energy Utilization in Spinal Muscular Atrophy (website)
  • Computer-based Speech Practice for Dysarthria: A Preliminary Investigation (website)
  • Decisional Capacity and Informed Consent in Fragile X Syndrome (website)
  • Determining Prevalence of Acute Bilirubin Encephalopathy in Developing Countries (website)
  • Early Biomarkers of Autism Spectrum Disorders in infants with Tuberous Sclerosis (website)
  • Errors and AEs in the setting of neonatal surgery performed in the NICU (website)
  • Exploration of the Role of Porcupine in Chick Neural Development (website)
  • Exploring the impact of care network structure on medication safety and errors (website)
  • Familial vertical talus exome sequencing (website)
  • Function of Mesendoderm in Closure of the Anterior Neural Tube (website)
  • GABA System Alterations and Fragile X Syndrome (website)
  • Genetic Regulation of Valproic Acid Teratogenicity (website)
  • Genomic Basis of Premature Ovarian Insufficiency (website)
  • Glutamine Transporters SNAT1 and SNAT2 in Rett Syndrome Microglia (website)
  • GPR30 Mediated-Estrogen Action on Ovarian Physiology and Ovarian Cancer (website)
  • H3Africa Kidney Disease Research Network (website)
  • iMHere: A Novel mHealth for Enhanced Wellness (website)
  • Improving TB Diagnosis in Children with and without HIV in Kenya (website)
  • Infant Oral Feeding Device for Use in Neonatal Intensive Care Units (website)
  • Infant Sleep Environment Monitoring System (SEMS) for SIDS (website)
  • Insulin and Androgen Interactions in the Infertility of Obesity (website)
  • LSDs: A Pilot NBS and Examination of the Associated Ethical Legal & Social Issues (website)
  • Maternal, Clinician & Hospital Factors in Breastmilk for Premature Infants (website)
  • Mechanisms of mitochondrial folate metabolism in neural tube closure (website)
  • Mechanisms of Motor Skill Learning in the Fragile X Mouse Model (website)
  • Mechanisms of Valproic Acid-Induced Neurodevelopmental and Behavioral Defects (website)
  • Metabolic Studies in Disorders of Branch Chain Amino Acid Metabolism (website)
  • Metachromatic Leukodystrophy Enzyme Drug Development (website)
  • Neonatal EEG Monitor (website)
  • New Directions in Biology and Disease of Skeletal Muscle (website)
  • Newborn screening translational research network coord ctr (website)
  • Nichd international & domestic pediatric & maternal hiv studies coordinating ctr (website)
  • Non-invasive neonatal respiration monitor (website)
  • Novel technologies in newborn screening (website)
  • Ospac evaluation support for pediatric studies (website)
  • Pharmacokinetics of Anti-tuberculosis and Antiretroviral Drugs in Children (website)
  • Pre-Clinical Development of a Fetal Micropacemaker (website)
  • Primordial germ cell differentiation and the initiation of testicular cancer (website)
  • Vertebrate Animal Models of Cornelia de Lange Syndrome (website)
  • A Drosophila Model for Cornelia de Lange Syndrome (website)
  • R&D- Medical: Biomedical (Applied Research/Exploratory Development) (website)
  • Rapid detection of neonatal sepsis (website)
  • Rare Genetic Variants as Novel Causes of Idiopathic or Syndromic Short Stature (website)
  • Risk and Protective Factors for Immune Health in Pediatric Cancer (website)
  • Shared Decision Making In Pediatric Chronic Conditions: Biologics in IBD and JIA (website)
  • Sids Risk Reduction In Northern Native American Communities (website)
  • Sleep and Circadian Rhythms in Tuberous Sclerosis Complex (website)
  • Social Media And Risk-reduction Training for Infant Care Practices (SMART) (website)
  • TGF-BETA Signaling in Myometrial Development and Function (website)
  • Tracking Neurodegeneration In Early Wolfram Syndrome (website)
  • Wireless Novel MicroEEG for Neonatal Apnea and Community Neurological Network (website)

 

2011

  •  A Follow-up of Children Enrolled in the Management of Myelomeningocele Study (website)
  • A longitudinal study of parent-child collaboration in CF and type 1 diabetes (website)
  • An automated microfluidic platform for high-throughput newborn SCID screening (website)
  • Azithromycin to prevent BPD in ureaplasma-infected preterms (website)
  • Cellular regulation of Sodium-activated Ion Channels (website)
  • Computerized Cognitive Rehabilitation in Children after Severe Malaria (website)
  • Definition of chromosomal abnormalities by next generation sequencing (website)
  • Efficacy of flupirtine for treatment of neonatal hypoxic-ischemic encephalopathy (website)
  • Enabling use of blood spot cards for accurate high throughput Fragile X screening (website)
  • FMR1 CGG Repeats in Primary Ovarian Insufficiency Women vs. 2 Comparison Groups (website)
  • Genetic Basis of Syndromic and Non-Syndromic Congential Heart Defects (website)
  • Genetic Testing for Huntington Disease in At Risk Adolescents and Young Adults (website)
  • Hyperandrogenism and Insulin Resistance in the Ontogeny of PCOS (website)
  • Inborn Errors of Metabolism Collaborative: Defining the Natural History of Inborn (website)
  • Integrated Eye and Head Tracking for People with Severe Disabilities (website)
  • Investigation Of Protocadherin-10 In Mef2- And Fmrp-Mediated Synapse Elimination (website)
  • Low Cost Monitoring Strategy to Optimize Tuberculosis Treatment in Children (website)
  • Mississippi Sids African American Outreach Project (website)
  • Model Studies for FSHD Biomarkers (website)
  • Molecular Mechanisms of Adverse Metabolic Events by Asparaginase (website)
  • MRI-Based Method for Quantifying CMRO2 in Humans (website)
  • Neurogenesis: Career Development Plan in the Genetic and Modeling of Microcephaly (website)
  • Newborn Screening and Biomarkers for Mucopolysaccharidoses (website)
  • Newborn screening for identification & prospective followup of infants with SMA (website)
  • Non-Invasive Detection of Fetal Aneuploidy by Next-Generation DNA Sequencing (website)
  • Noninvasive prenatal diagnosis using targeted DNA capture and sequencing (website)
  • Optimal dosing of 1st line antituberculosis and antiretroviral drugs in children (website)
  • Pharmacogenetic Determinants of Vincristine Toxicity and Response (website)
  • Pharmacokinetics and toxicity of 2nd line anti-tb drugs in hiv-infected children (website)
  • Pilot newborn screening project for identification and prospective followup of in (website)
  • Pulmonary Blood Flow in Lung Development and Congenital Diaphragmatic Hernia (website)
  • Regulation of UBE3A genomic imprinting by tissue-specific alternative splicing (website)
  • Role of endocytosis by the neural crest in cardio-craniofacial development (website)
  • Role of FMRP and FXR1 in neural stem cells during neocortical development (website)
  • Role of Perinatal Neuronal Stem Cells in Tuber Formation (website)
  • Role of TET Proteins in ES Cell Pluripotency and Function (website)
  • Selection of drug resistant malaria parasites (website)
  • Sids Risk Reduction In Native American Populations (website)
  • Small Molecule Modulators of the Glutamate Transporter for Treatment of ALS (website)
  • Targeting SHP2 Phosphatase for Hematologic Malignancies in Noonan Syndrome (website)
  • Targeting SHP2 phosphatase for treatment/prevention of hematologic malignancies i (website)
  • The Nucleocytoskeleton in Progeria and Aging (website)
  • The role of astrocytes in Rett syndrome (website)
  • Transcriptional Networks Regulating Luminal Environment in the Epididymis (website)
  • Translating an Adult Ventilator Computer Protocol to Pediatric Critical Care (website)
  • Triazine-based compounds to promote regeneration in optic neuropathies (website)

2010

  • Antimalarial Pharmacology in HIV Coinfected Children and Pregnant Women in Uganda (website)
  • Brainstem GABAergic Neuron Development and Function (website)
  • Branched Chain FA and Gut Development (website)
  • Cell-specific role of NF-KB in necrotizing enterocolitis (website)
  • Characterization of autonomic dysfunction in Rett syndrome & other MECP2 disorders (website)
  • Comprehensive Assessment of the Impact of Illness and Disability in Children (website)
  • Cooperative lead development program for treatment of spinal muscular atrophy (website)
  • Developmental & Molecular Mechanisms Employed by Chato, a KRAB Zinc Finger Protein (website)
  • Establishment of a phenotypical model of adverse outcomes associated with ART (website)
  • Experience-Dependent Redeployment of MeCP2 Across the Mouse Genome (website)
  • Functional circuit disorders of sensory cortex in ASD and RTT (website)
  • Gene Therapy for Neurodegenerative Lysosomal Storage Diseases (website)
  • Graves’ Disease Therapy Risks to Mother and Fetus (website)
  • Human Milk Factor Protection in Neonatal Necrotizing Enterocolitis (website)
  • Identification of Novel Loci Interacting with the Kallmann Syndrome Gene Kal-1 (website)
  • Impact of TB on Outcome of HIV in Pregnant Women (website)
  • Impact of the P479L Variant in CPT1A on Infant Mortality in Alaska (website)
  • Improving the Self-Efficacy of African American Parents in Infant Supine Sleep (website)
  • In Vivo Function of Neuronal Activity-Induced MeCP2 phosphorylation (website)
  • Intermittent Hypoxia and Retinopathy of prematurity (website)
  • Intravenous Magnesium for Sickle Cell Vasoocclusive Crisis (website)
  • Investigating the pathogenesis of CoQ10 deficiencies (website)
  • Mitochondrial Gene Therapy (website)
  • Molecular Pathogenesis and Treatment of MNGIE (website)
  • Motor impairments in Huntington’s disease: mechanisms and outcome measures (website)
  • Neurobiology of MeCP2 in adult neurogenesis (website)
  • Novel Ubiquitin Dependent Pathways Regulating Neural Tube Closure and Placentation (website)
  • Oral tolerance in enzyme replacement therapy of Morquio A disease (website)
  • Overcoming Immune Barriers to Gene Correction for Duchenne Muscular Dystrophy (website)
  • PAAR4Kids-Pharmacogenomics of Anticancer Agents Research in Children (website)
  • Pediatric Pharmacogenomics and Personalized Medicine (website)
  • Pharmacologic treatment of mitochondrial complex I dysfunction in C. elegans (website)
  • Plasma Membrane Repair Mechanisms in Placental Trophoblasts (website)
  • Regulation of Fetal Ovarian Development by GATA4 (website)
  • Regulation Of Synapse Elimination By FMRP (website)
  • Regulators of Centriole Duplication and Structure (website)
  • Retinoid-Related Genes in Diaphragm and Cardiac Development (website)
  • Risk Factors for Osteoporosis in Children & Adolescents with Myelomeningocele (website)
  • Role of Damage Response in Bone Marrow Failure in Fanconi Anemia (website)
  • Safety/Feasibility of Autologous Mononuclear Bone Marrow Cells in Stroke Patients (website)
  • SLOS and Neuronal Oxidative Stress (website)
  • Technologies for Mapping Interspersed AGG Sequences in the FMR1 Gene (website)
  • The effects of polyparasitism on vaccine response (website)
  • The Neural Organization of Quantitative Concepts in Early Childhood (website)
  • The Roles of FGF9 and FGF18 in Skeletal Development (website)
  • Therapy for Spinal Muscular Atrophy (website)
  • Tobacco Policies, Prenatal Smoking, and Infant & Child Outcomes (website)
  • Zebrafish model of Peters-plus syndrome (website)