Evidence, insights and developments shaping the world of rare diseases
This first edition lands on India's 80th Independence Day.
Professional guidance on handling incidental findings from rare disease genomic testing, an area laboratories currently approach inconsistently.
A position statement on what stability on enzyme replacement therapy should look like, and when a change in management is warranted.
A newly defined disease gene, worth checking against unsolved neurodevelopmental cases on your list.
A review of how genomic data and clinical records are being combined computationally, and where the current limits sit.
Selection criteria for rapid sequencing in critically ill newborns, where the decision to test is time bound.
A cohort large enough to serve as a reference point for expected diagnostic yield in neurodegenerative presentations.
Structural variants remain a recurring reason families stay undiagnosed after standard testing comes back negative.
Four years of real-world data in Niemann-Pick type C, outside the constraints of a trial population.
How responder status is determined in phenylketonuria, a classification that directly shapes long-term management.
Exome sequencing in previously undiagnosed muscular dystrophy families, with novel variants reported.
Approvals, papers and guidance in rare and genetic diseases, each with a short note on why it matters. Sent weekly, read in a few minutes.
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