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Taeyeon Bae

59 posts
News of the Week

[October 6, 2022] News of the Week

Rare disease diagnostics & researchThe Rady Children’s Institute for Genomic Medicine announced a collaboration with PlumCare RWE to expand its rWGS-based newborn screening program in…

News of the Week

[September 29, 2022] News of the Week

Rare disease diagnostics & researchResearchers at the University of Pennsylvania and the University of Florida are developing an AI algorithm to calculate the risk for rare…

News of the Week

[September 22, 2022] News of the Week

Rare disease diagnostics & researchCystinosis is a rare disease with fatal complications from abnormal cystine accumulation. Researchers at UC Santa Cruz, Stanford University, and the University…

Insights

Global rare disease diagnosis cooperation using ClinVar

What is ClinVar?ClinVar is a public database operated by the U.S.A. National Institutes of Health (N.I.H.), in which information about variants…

News of the Week

[September 15, 2022] News of the Week

Rare disease diagnostics & researchAlthough ACMG recommends that pediatric patients with specific symptoms undergo exome or genome sequencing tests as the first test, it still takes…

News of the Week

[September 8, 2022] News of the Week

Rare disease diagnostics & researchOxford Nanopore Technologies and Al Jalila Children's Specialty Hospital (AJCH) have launched a pilot program to diagnose undiagnosed rare disease patients. Through…

News of the Week

[September 1, 2022] News of the Week

Rare disease diagnostics & researchFive research groups collaborated to analyze 150,000 people’s genetics, including patients with autism spectrum disorder (ASD), developmental delay, and schizophrenia.…

News of the Week

[August 26, 2022] News of the Week

Rare disease diagnostics & researchIn addition to the primary finding, which provides the results suitable for the purpose of the test, the results of the genetic…

News of the Week

[August 18, 2022] News of the Week

Rare disease diagnostics & researchIn the UK, children with developmental delays or intellectual disabilities are recommended to have an early Whole Exome or Whole Genome test.…

News of the Week

[August 11, 2022] News of the Week

Rare disease diagnostics & researchHealx's CEO wrote in Forbes that AI will play an important role in the discovery of rare disease drugs. Dr. Tim Guilliams…

News of the Week

[August 4, 2022] News of the Week

Rare disease diagnostics & researchResearchers have used a new imaging technique to differentiate retinal lesions caused by Vitelliform Macular Dystrophy(VMD) by genetic variants. Differences in…

News of the Week

[July 28, 2022] News of the Week

Rare disease diagnostics & researchThe American College of Physicians(ACP) has issued a position paper that physicians should consider the benefits and harms of genetic testing…

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