[November 24, 2022] News of the Week
Rare disease diagnostics & research 1. At the National Society of Genetic Counselors(NSGC) annual meeting, Fulgent Genetics' Han Chao presented the benefits of parent-initiated newborn screening…
[November 17, 2022] News of the Week
Rare disease diagnostics & research 1. The Korean government announced that it will build a national database for 1 million people from 2024 to 2032 through The…
[November 10, 2022] News of the Week
Rare disease diagnostics & research 1. BC Platforms CEO Tero Silvola announced that Centogene joined the biobank analytics platform BCRquest.com. BC Platforms helps bio companies develop…
[November 03, 2022] News of the Week
Rare disease diagnostics & research 1. 3billion participated in the American Society of Human Genetics (ASHG) Annual Conference, the world's largest human genetics and genomics academic conference.…
[October 27, 2022] News of the Week
Rare disease diagnostics & research 1. Researchers at Korea University in South Korea and the Institute for Basic Science (BIS) have identified the cause of West Syndrome.…
[October 20, 2022] News of the Week
Rare disease diagnostics & research 1. The FDA published guidance on what types of Clinical Decision Support(CDS) software are considered medical devices or exempted from regulation.…
[October 13, 2022] News of the Week
Rare disease diagnostics & research 1. This article introduces the Center for Genomics Interpretation's variant interpretation quality assessment program to help insurers better understand the quality of…
[October 6, 2022] News of the Week
Rare disease diagnostics & research 1. The Rady Children’s Institute for Genomic Medicine announced a collaboration with PlumCare RWE to expand its rWGS-based newborn screening program…
[September 29, 2022] News of the Week
Rare disease diagnostics & research 1. Researchers at the University of Pennsylvania and the University of Florida are developing an AI algorithm to calculate the risk for…
[September 22, 2022] News of the Week
Rare disease diagnostics & research 1. Cystinosis is a rare disease with fatal complications from abnormal cystine accumulation. Researchers at UC Santa Cruz, Stanford University, and the…
[September 15, 2022] News of the Week
Rare disease diagnostics & research 1. Although ACMG recommends that pediatric patients with specific symptoms undergo exome or genome sequencing tests as the first test, it still…
[September 8, 2022] News of the Week
Rare disease diagnostics & research 1. Oxford Nanopore Technologies and Al Jalila Children's Specialty Hospital (AJCH) have launched a pilot program to diagnose undiagnosed rare disease patients.…