Boston Children's Hospital has established a genomic sequencing and analysis research initiative to improve clinical care for pediatric rare disease patients. Through the Children's Rare Disease Collaborative (CRDC), the hospital offers CLIA-grade exome and genome sequencing, along with other sequencing types, to patients enrolled in specialized rare disease research studies. The data, consented for broad research use, are harmonized and analyzed with CRDC-supported variant interpretation tools.
View Article and Find Full Text PDFIn the early years of the COVID-19 pandemic, unprecedented public health measures were designed and implemented to mitigate the spread of SARS-CoV-2. On January 26, 2021, US Centers for Disease Control and Prevention (CDC) staff began daily audits of documents of arriving passengers at 18 US international ports of entry to ensure documentation of either a negative predeparture antigen or nucleic acid amplification test result for SARS-CoV-2 or recent recovery from COVID-19. This case study briefly describes the results of those audits.
View Article and Find Full Text PDFBackground: On 20 September 2022, the Ugandan Ministry of Health declared an outbreak of Ebola disease caused by Sudan ebolavirus.
Methods: From 6 October 2022 to 10 January 2023, Centers for Disease Control and Prevention (CDC) staff conducted public health assessments at five US ports of entry for travellers identified as having been in Uganda in the past 21 days. CDC also recommended that state, local and territorial health departments ('health departments') conduct post-arrival monitoring of these travellers.
Laryngoscope Investig Otolaryngol
June 2024
Objective: Studies evaluating genetic sensorineural hearing loss (SNHL) in Hispanic and Latino populations using genomic technologies are lacking. Recent data has shown that Hispanic and Latino children display lower genetic diagnostic rates despite similar prevalence rates of SNHL to their Asian and White counterparts, thus negatively affecting their clinical care. Our objective was to determine the genetic contribution to SNHL in a population of Mexican children undergoing evaluation for cochlear implantation.
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