[May 19, 2022] News of the Week
Rare disease pharmaceutical industry trendsRocket Pharmaceuticals, Inc. announced the progress of phase 2 clinical trials for Fanconi Anemia treatment and Phase 1 clinical trials for Danaon…
[May 12, 2022] News of the Week
Rare disease pharmaceutical industry trendsThe US Food and Drug Administration's Center for Drug Evaluation and Research (CDER) has announced the Accelerating Rare Disease Cures (ARC) program…
[May 6, 2022] News of the Week
Rare disease pharmaceutical industry trendsThe FDA approved the first treatment for penicillamine-tolerant patients with Wilson's disease. Wilson's disease is a rare genetic disorder in which copper…
[April 28, 2022] News of the Week
Rare disease pharmaceutical industry trendsThe Czech health minister has urged the EU to jointly purchase medicines for rare diseases to lower the price of drugs and…
3billion aims to lead genetic diagnosis in global market
Let’s take a look at the interview article with ‘Korea Biomedical Review’ of 3billion’s CEO Changwon Keum. There are many difficulties in diagnosing rare…
[April 21, 2022] News of the Week
Rare disease pharmaceutical industry trendsU.S FDA designated Aytu BioPharma’s Vascular Ehlers Danlos Syndrome treatment ‘AR101’ as a fast track. The treatment had already been…
[April 14, 2022] News of the Week
Rare disease pharmaceutical industry trendsTakeda and Evozyne signed a $400 million contract to develop gene therapy for rare diseases. If Evozyne's AI and machine learning technology…
[April 7, 2022] News of the Week
Rare disease diagnostics & researchResearchers from the Genomic Answers for Kids (GA4K) project have published a study showing that long-read sequencing technology and machine learning technology…
[March 31, 2022] News of the Week
Rare disease pharmaceutical industry trendsSanofi's first treatment for acid sphingomyelinase deficiency (ASMD), olipudase alfa (Xenpozyme), was approved in Japan. It is expected to be approved in…
[March 24, 2022] News of the Week
Rare disease pharmaceutical industry trendsA treatment for CDKL-5 deficiency (CDD), a rare genetic disorder, has been approved by the FDA. This makes Ztalmy, developed by Marinus…
[March 17, 2022] News of the Week
Rare disease pharmaceutical industry trendsIn collaboration with Scenic Biotech, Roche plans to conduct clinical trials for three rare disease treatments. The three drugs are treatments for…
Can I order a genetic test for a rare disease only based on the diagnostic yield?
Introduction On the website of a company providing genetic testing for rare diseases, you can easily see "increases diagnostic yield by up to 20% compared…