A5107959936- Metabolism and Genetic Disorders
- Diet and metabolism studies
- Neonatal Health and Biochemistry
- Folate and B Vitamins Research
- Mitochondrial Function and Pathology
- Genomics and Rare Diseases
- Prenatal Screening and Diagnostics
- Amino Acid Enzymes and Metabolism
- Biochemical and Molecular Research
- Pharmacological Effects and Toxicity Studies
- Genetic Syndromes and Imprinting
- Genetics and Neurodevelopmental Disorders
- Epigenetics and DNA Methylation
- Thyroid Disorders and Treatments
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Diabetes and associated disorders
- Congenital heart defects research
- Muscle metabolism and nutrition
- Family and Disability Support Research
- Epilepsy research and treatment
- Neonatal Respiratory Health Research
- Birth, Development, and Health
- Genomic variations and chromosomal abnormalities
- Genetic Neurodegenerative Diseases
- Family Support in Illness
Boston Children's Hospital
2015-2024
Harvard University
2015-2024
Dana-Farber/Boston Children's Cancer and Blood Disorders Center
2018-2024
Institut thématique Génétique, génomique et bioinformatique
2019
Boston Children's Museum
1991-2016
Research Network (United States)
2010-2011
John F. Kennedy Center for the Performing Arts
2010
Rady Children's Hospital-San Diego
2010
Children's Hospital
1999-2010
University of South Florida
2010
When thyroid deficiency occurs simultaneously in a pregnant woman and her fetus, the child's neuropsychological development is adversely affected. Whether developmental problems occur when only mother has hypothyroidism during pregnancy not known.
Genome sequencing is often pivotal in the diagnosis of rare diseases, but many these conditions lack specific treatments. We describe how molecular a rare, fatal neurodegenerative condition led to rational design, testing, and manufacture milasen, splice-modulating antisense oligonucleotide drug tailored particular patient. Proof-of-concept experiments cell lines from patient served as basis for launching an "N-of-1" study milasen within 1 year after first contact with There were no serious...
ContextTandem mass spectrometry now allows newborn screening for more than 20 biochemical genetic disorders. Questions about the effectiveness and risks of expanded disorders need to be answered prior its widespread acceptance as a state-mandated program.ObjectivesTo compare identification by with clinical assess impact on families false-positive result compared normal in program.DesignProspective study involving an inception cohort newly diagnosed children.SettingMassachusetts, Maine,...
Newborn screening programs now identify children with >30 biochemical genetic disorders. False-positive identifications may increase as disorders are added to panels. Concerns arise regarding the potential impact on parental stress, family relationships, and perceptions of child's health.Parents 173 infants false-positive results for a disorder in expanded newborn panel were compared parents 67 normal results. Parents completed an interview that elicited information about demographic...
We studied the effects of maternal phenylketonuria and hyperphenylalaninemia on 53 offspring from untreated pregnancies in 22 mothers who were identified by routine screening umbilical-cord blood. The IQ was significantly correlated with both (r = 0.83, P<0.001) blood phenylalanine level -0.82, P<0.001), but one exception, mental retardation present only when exceeded 1100 μmol per liter (18 mg deciliter). Microcephaly consistently 1200 (20 Congenital heart disease other congenital anomalies...
The greatest opportunity for lifelong impact of genomic sequencing is during the newborn period. "BabySeq Project" a randomized trial that explores medical, behavioral, and economic impacts integrating into care healthy sick newborns.Families newborns are enrolled from Boston Children's Hospital Brigham Women's nurseries, half to receive report includes monogenic disease variants, recessive carrier variants childhood onset or actionable disorders, pharmacogenomic variants. All families...
Angelman syndrome (AS) is a neurodevelopmental disorder caused by deletion on chromosome 15, uniparental disomy, imprinting defect, or UBE3A mutation. It characterized intellectual disability with minimal speech and certain behavioral characteristics. We used standardized measures to characterize the developmental profile analyze genotype-phenotype correlations in AS.The study population consisted of 92 children, between 5 months years age, enrolled Natural History Study. Each participant...
Classic galactosemia is a rare inborn error of carbohydrate metabolism, caused by severe deficiency the enzyme galactose-1-phosphate uridylyltransferase (GALT). A galactose-restricted diet has proven to be very effective treat neonatal life-threatening manifestations and been cornerstone treatment for this disease. However, burdensome complications occur despite lifelong diet. For diseases, patient disease specific registry fundamental monitor lifespan pathology evaluate safety efficacy...
When both the fetus and mother have thyroid deficiency, it can be expected that neuropsychological development will compromised, but is not clear whether similar problems occur when only hypothyroid. This study reviewed thyrotropin (TSH) values in stored sera from >25,000 pregnant women. Forty-seven had serum TSH at or above 99.7th percentile for all women, 15 others levels between 98th 99.6th percentiles as well a low thyroxine level (below 99.7 nmol/liter). The hypothyroid women were...
The purpose of this report is to review the obstetric medical, psychological, and nutritional aspects outcome women offspring enrolled in Maternal Phenylketonuria Study, which was established assess efficacy a phenylalanine (Phe)-restricted diet preventing morbidity associated with disorder.A total 382 hyperphenylalaninemia (HPA) were study completed 572 pregnancies. Outcome measures analyzed chi2, Fisher exact text, analysis variance, t test, Wilcoxon nonparametric multiple logistic...
Purpose: To evaluate whether there were differences in acquisition of research grant support between male and female faculty at eight Harvard Medical School-affiliated institutions. Methods: Data obtained from the participating institutions on all applications submitted by full-time 2001 through 2003. analyzed gender rank applicant, source (federal or nonfederal), funding outcome, amount requested, awarded. Results: 6319 2480 applicants analyzed. Women represented 29% investigators 26%...
Abstract Angelman syndrome (AS) is a neurodevelopmental disorder caused by lack of expression the maternal copy UBE3A . Although “classic” features AS are well described, few large‐scale studies have delineated clinical in AS. We present baseline data from 92 children with molecular diagnosis between 5 and 60 months old who enrolled National Institutes Health Rare Diseases Clinical Research Network Syndrome Natural History Study January 2006 to March 2008. Seventy‐four percent participants...
Duchenne and Becker muscular dystrophy are allelic X-linked disorders causing progressive muscle weakness in males. is caused by absence of dystrophin brain; boys with have a static cognitive impairment mean Full Scale IQ approximately 1 standard deviation below the mean. Less known profile males dystrophy, which associated variable alterations amount or size protein. The aim this study was to describe psychological dystrophy. This prospective cohort study. Clinical data collected included...
Context: Lower neurocognitive development scores at age 2 yr have been reported in association with euthyroid hypothyroxinemia during early pregnancy. Objective: The objective of this study was to further explore Design: This an observational, nested case-control study. Setting: conducted physician offices and prenatal clinics throughout Maine. Study Subjects: Between May 2004 March 2006, TSH measured 5734 women conjunction second-trimester Down syndrome screening. After completion...