A5021582536- Peptidase Inhibition and Analysis
- Neuroendocrine Tumor Research Advances
- Cancer Genomics and Diagnostics
- Neuropeptides and Animal Physiology
- Genomics and Rare Diseases
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Lung Cancer Research Studies
- Genomics and Chromatin Dynamics
- Genomic variations and chromosomal abnormalities
- Ubiquitin and proteasome pathways
- COVID-19 and healthcare impacts
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Cancer-related gene regulation
- T-cell and B-cell Immunology
- Glioma Diagnosis and Treatment
- Protease and Inhibitor Mechanisms
- RNA modifications and cancer
- Antifungal resistance and susceptibility
- Histone Deacetylase Inhibitors Research
- Complementary and Alternative Medicine Studies
- Neonatal Respiratory Health Research
- Acupuncture Treatment Research Studies
- Psychosomatic Disorders and Their Treatments
- Autism Spectrum Disorder Research
- Telemedicine and Telehealth Implementation
Children's National
2021-2025
National Human Genome Research Institute
2023-2024
Yale University
1992-2023
National Institutes of Health
2023
Case Western Reserve University
2012-2017
University School
2012-2017
University of Southern California
2014
Children's Cancer Center
2014
Baylor College of Medicine
2013-2014
Institute of Cancer Research
2014
Bronchiolitis obliterans with organizing pneumonia (BOOP) is a distinct clinical pathologic syndrome. Most patients experience good response to therapy, and death from progressive BOOP uncommon. This report describes the features, etiologic factors, findings, outcome of 10 rapidly that was characterized by severe respiratory failure. The major manifestations were dyspnea, cough, fever, crackles on chest examination, hypoxemia at rest. Underlying conditions or exposures included...
Abstract In addition to mutations in genes, aberrant enhancer element activity at non-coding regions of the genome is a key driver tumorigenesis. Here, we perform epigenomic profiling cohort more than forty genetically diverse human colorectal cancer (CRC) specimens. Using normal colonic crypt epithelium as comparator, identify enhancers with recurrently gained or lost across CRC Of highly activated CRC, most are constituents super enhancers, occupied by AP-1 and cohesin complex members,...
Human cancers are driven by the acquisition of somatic mutations. Separating driving mutations from those that random consequences general genomic instability remains a challenge. New sequencing technology makes it possible to detect present in only minority cells heterogeneous tumor population. We sought leverage power ultra-deep study various levels heterogeneity serial recurrences single glioblastoma multiforme patient. Our goal was gain insight into temporal succession DNA base-level...
Variant calling is hindered in segmental duplications by sequence homology. We developed Paraphase, a HiFi-based informatics method that resolves highly similar genes phasing all haplotypes of paralogous together. applied Paraphase to 160 long (>10 kb) duplication regions across the human genome with high (>99%) similarity, encoding 316 genes. Analysis five ancestral populations revealed variable copy numbers these regions. identified 23 paralog groups exceptionally low within-group...
ABSTRACT Objective To conduct a retrospective analysis comparing traditional human-based consenting to an automated chat-based process. Materials and Methods We developed new consent using our IRB-approved forms. leveraged previously platform (Gia®, or “Genetic Information Assistant”) deliver the chat content candidate participants. The included information about study, educational information, quiz assess understanding. analyzed 144 families referred study during 6-month time period. A...
Abstract Objective We implemented a chatbot consent tool to shift the time burden from study staff in support of national genomics research study. Materials and Methods created an Institutional Review Board-approved script for automated chat-based consent. compared data prospective participants who used or had traditional conversations with staff. Results Chat-based consent, completed on user’s schedule, was shorter than conversation. This did not lead significant change affirmative...
Idiopathic diffuse hyperplasia of pulmonary neuroendocrine cells (IDHPNC) is a clinicopathological entity characterized by involving distal bronchi and bronchioles. The pathogenesis this syndrome remains unknown. hyperplastic (NE) contain multiple neuropeptides, including the bombesinlike peptides (BLP), which are likely important in disorder stimulating proliferation fibroblasts paracrine fashion NE themselves an autocrine manner. Neutral endopeptidase (NEP) cell-surface enzyme that...
Although familial susceptibility to glioma is known, the genetic basis for this remains unidentified in majority of glioma-specific families. An alternative approach identifying such genes examine cancer pedigrees, which include as one several phenotypes, determine whether common chromosomal modifications might account aggregation and other cancers. Germline rearrangements 146 families (from Gliogene Consortium; http://www.gliogene.org/) were examined using multiplex ligation-dependent probe...
We evaluated the diagnostic yield using genome-slice panel reanalysis in clinical setting an automated phenotype/gene ranking system. analyzed whole genome sequencing (WGS) data produced from clinically ordered panels built as bioinformatic slices for 16 diverse, undiagnosed cases referred to Pediatric Mendelian Genomics Research Center, NHGRI-funded GREGoR Consortium site. Genome-wide was performed Moon™, a machine-learning-based tool variant prioritization. In five out of cases, we...
Chronic granulomatous disease (CGD) patients are highly susceptible to invasive aspergillosis and might benefit from aspergillus-specific T cell immunotherapy, which has shown promise in treating those with known defects such as haematopoietic stem transplant (HSCT) recipients. But whether contribute increased risks for aspergillus infection CGD is unclear. Hence, we set out characterize the response CGD. In murine models showed that CD4(+) responses were unimpaired: frequencies even...
Abstract In an era of increasing technology and interaction with the patient bedside, we explore role relocating bedside from hospital to home using telemedicine. The COVID‐19 pandemic pushed telemedicine small pilot programs widespread practice at unprecedented rate. With rapid implementation telemedicine, it is important consider how create a telehealth system that provides both good care for patients families while maintaining excellent education environment trainees all levels. To this...
The use of hematopoietic support for patients receiving high-dose chemotherapy has increased over the past 10 years. Various quality controls are performed on cells, including microbiologic cultures. There is considerable expense associated with serial cultures at different times during collection, processing, and cells. We reviewed all bone marrow harvests leukaphereses a 17 month period. Of 227 harvests, 16 were positive, but only 3 (1.3%) repeat positives same organism after processing or...
Neutral endopeptidase (NEP) is a cell surface enzyme found in normal human lung and which hydrolyzes small bioactive peptides, some of act as growth factors for malignant airway epithelial cells. Expression NEP varies widely tissue from different individuals. often expressed at low or undetectable levels both small-cell non-small–cell cancer, inhibits the cancer lines. Variation expression could be factor susceptibility to cancer. We hypothesized that measured bronchoalveolar lavage fluid...
Developmental delays are common in pediatric patients, but clinical features predictive of genetic vs idiopathic neurodevelopmental disorders unclear. First presentation rare (RGNDs) often nonspecific, which leads to diagnosis. RGNDs represent a large percentage diseases can present initially during developmental screening the primary care setting. This project aimed elucidate relationship between outcomes and eventual evaluation.