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)