A5085628914- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- RNA regulation and disease
- Tryptophan and brain disorders
- RNA and protein synthesis mechanisms
- Metabolism and Genetic Disorders
- Neuroendocrine regulation and behavior
- Genomic variations and chromosomal abnormalities
- Diet and metabolism studies
- Multiple Sclerosis Research Studies
- Polyomavirus and related diseases
- Stress Responses and Cortisol
- Glycogen Storage Diseases and Myoclonus
- RNA modifications and cancer
- Retinal and Optic Conditions
- Global Health and Surgery
- Immunodeficiency and Autoimmune Disorders
- Lanthanide and Transition Metal Complexes
- Anesthesia and Neurotoxicity Research
- Mitochondrial Function and Pathology
- Pharmaceutical studies and practices
- Immune Cell Function and Interaction
- Congenital heart defects research
- Erythrocyte Function and Pathophysiology
- Neuroendocrine Tumor Research Advances
Center for Drug Evaluation and Research
2018-2025
United States Food and Drug Administration
2020-2024
Office of the Director
2016-2023
National Institutes of Health
2015-2023
National Human Genome Research Institute
2015-2021
University of California, Los Angeles
2017
National Institute of Neurological Disorders and Stroke
2017
Johns Hopkins Hospital
2011
University of Maryland, Baltimore
2003-2004
National Institute of Mental Health
1998
The cause of neurodegeneration in progressive forms multiple sclerosis is unknown. We investigated the impact specific neuroinflammatory markers on human neurons to identify potential therapeutic targets for neuroprotection against chronic inflammation. Surface immunocytochemistry directly visualized protease-activated receptor-1 (PAR1) and interleukin-1 (IL-1) receptors postmortem cortex patients with without lesions. Viability cultured was determined after exposure cerebrospinal fluid from...
We describe two unrelated children with de novo variants in the non‐erythrocytic alpha‐II‐spectrin ( SPTAN1 ) gene who have hypoplastic brain structures, intellectual disability, and both fine gross motor impairments. Using agnostic exome sequencing, we identified a nonsense variant creating premature stop codon exon 21 of , second patient an intronic substitution prior to 50 new donor acceptor site. Neither these has been described previously. Although some patients' features are consistent...
Background: Only progressive multifocal leukoencephalopathy (PML) is currently described in the dimethyl fumarate (DMF) prescribing information. Objectives: To describe opportunistic infections (OIs), other than PML, reported association with DMF. Methods: The FDA Adverse Event Reporting System (FAERS) and medical literature were searched. Results: We retrieved 34 cases of serious OIs a causal DMF, including 11 central nervous system (CNS) 23 extra-CNS infections. Six occurred normal...
Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency (MCADD) is an autosomal recessive inherited fatty acid oxidation disorder. In MCADD, mitochondria cannot process medium-chain acids via the β-oxidation pathway because of a lack MCAD. While patients may be asymptomatic during prenatal or immediate postnatal periods, will experience decompensation due to profound hypoglycemia fasting illness with often rapid progression encephalopathy, seizures, coma, death. Newborn screening tests...
Evidence of immune system abnormalities in adult schizophrenia has prompted examination the human leukocyte antigen (HLA) system. Childhood onset offers a unique opportunity to test neurodevelopmental hypotheses schizophrenia, including those which implicate components In present study, class I and II HLA antigens were typed using sequence-specific primers polymerase chain reaction 28 childhood schizophrenics 51 ethnically matched healthy subjects. Groups compared for frequencies reported be...