David Stroud
@dstroudlab.bsky.social
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Functional Genomics | Clinical Proteomics | Rare Disease
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Reposted by David Stroud
Reposted by David Stroud
The Guardian
@theguardian.com
· May 23
Blood test developed that could speed up diagnosis of rare diseases in babies
Scientists say new approach means effects of many genetic mutations can be analysed at once and yield results in days
A new blood-based test that could help speed up diagnoses for children born with rare genetic disorders has been developed by researchers in an effort to provide answers – and treatments – sooner.
Rare genetic disorders include a host of conditions, from cystic fibrosis to diseases relating to the mitochondria – the powerhouses of our cells. However, getting a diagnosis can be arduous. Continue reading...
www.theguardian.com
David Stroud
@dstroudlab.bsky.social
· May 23
Cutting the diagnosis journey for children born with rare genetic diseases
Families can wait years for a diagnosis of a rare genetic disorder, but a new test can provide answers in days for a better understanding of the condition and potentially earlier treatment, finds new...
pursuit.unimelb.edu.au