[Dec 2, 2021] News of the Week
The UK’s 100,000 Genomes Project is a national initiative funded by the National Institute for Health Research (NIHR) and National Health Service (NHS) to…
In what cases would it be better to conduct WES-based genetic testing for the diagnosis of rare diseases?
Recently, various test methods using NGS technology (Panel Sequencing, WES, and WGS) are being utilized to diagnose rare genetic diseases. The test method is generally selected…
[Nov 25, 2021] News of the Week
Rare disease groups have urged state governments to maintain and extend medical deregulations during the COVID-19 pandemic. Rare disease patients have been spending a lot of…
[Nov 18, 2021] News of the Week
Through the symposium held by Takeda Pharmaceuticals Korea on the diagnosis and treatment of Fabry and Gaucher diseases, various experts and a genetic diagnostics company participated…
[Nov 11, 2021] News of the Week
Takeda Pharmaceutical has proposed policy reforms to improve the diagnosis and management of rare diseases [Takeda Official Website] Takeda Pharmaceuticals has proposed policy reforms to the…
[Nov 04, 2021] News of the Week
Illumina, Israel Ministry of Health to Pilot Genome Sequencing for Diagnosing Critically Ill Infants [Genomeweb] Illumina and Israel's Ministry of Health have announced that they will…
[Oct 29, 2021] News of the Week
New Rare Disease Risk Loci Uncovered With 23andMe Participant Data [Genomeweb] 23andMe presented research on rare disorders at the ASHG 2021 Virtual Annual Meeting. The study…
Genomic Study Revealing Among Diverse Populations with Inherited Retinal Disease
Genomic Study Revealing Among Diverse Populations with Inherited Retinal DiseaseA study by the University of California San Diego and Shiley Eye Institute at UC San Diego…
FDA approves Takeda's Exkivity with Thermo Fisher CDx for EGFR exon20 insertion-positive NSCLC
On September 16, the FDA approved Takeda’s Exkivity (mobocertinib) as a treatment for NSCLCs (non-small cell lung cancers) with exon20 insertion variants in the EGFR…