Children's Mercy Kansas City has achieved a significant advancement toward the treatment of rare genetic diseases through the ...
A new study shows that long-read sequencing has the potential to improve the rate of diagnosis while reducing the time to diagnosis from years to days -- in a single test and at a much lower cost.
Study highlights use of techniques such as long-read genome sequencing, optical genome mapping, and RNA sequencing for rare ...
The “heel prick test” routinely offered to all newborns in Victoria is being expanded from Wednesday to include screening for ...
The gene mutation was isolated in a family in northern Italy where under half of the relations developed the disease. View on ...
On December 17, 2024, the Department of Health & Human Services, Office of Inspector General (HHS-OIG) issued its second favorable advisory ...
Asher Cantrell, diagnosed with SMARD 1, has received experimental gene therapy after social media support and is currently ...
‘The message I want to convey is that by investing in research, health and education we can improve people’s lives. Eric ...
The “heel prick test” routinely offered to all newborns in Victoria is being expanded from Wednesday to include screening for ...
GlobalData on MSN1d
First patient dosed in Phase Ib Pompe disease trialThe Phase Ib trial is set to test a gene therapy designed to target a rare disorder that causes muscle and respiratory failure.
Haliza Md Kasim’s eyes widened. Despite having gone through this before with her first son, Yusof, and despite the doctors ...
In this blog, Nadezhda Feliz, Genomics Data Scientist, shares her motivation for working in rare conditions research.
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