Rare Disease

5 articles published between February 25, 2026 and October 18, 2026.

Covered in Policy, Science and Global Health.

FDA opens a public docket on a new rare-disease drug framework

The Fit-for-Purpose Rare Disease Framework Initiative launches with a 28 October public meeting and a request for comments. The FDA wants to tailor its review to very small patient populations.

3 min read

WHAT THE STUDY ACTUALLY SAYS

A New York study added genome sequencing to newborn screening. 3.7% screened positive

GUARDIAN offered parents of 4,000 babies a genomic screen for 156 treatable conditions on top of the standard heel-prick. Most said yes, and sequencing worked in 99.6% of cases.

3 min read

ANALYSIS

Qatar, 428,881 newborns into a metabolic screen, is piloting a genomic one

The country's blood-spot programme has run since 2003 and reaches nearly every baby. A pilot adds genomic sequencing — where a study of Qatari genomes suggests the biggest gains lie.

3 min read

WHAT THE STUDY ACTUALLY SAYS

In a 322-patient MENA study, most granulomatous disease was recessively inherited

Chronic granulomatous disease is usually X-linked in Western cohorts. A multicentre Middle East and North Africa registry found the opposite pattern, alongside late diagnosis and a median survival of 8.5 years.

3 min read

EXPLAINER

FDA proposes approving individualised gene therapies without a randomised trial

The draft Plausible Mechanism Framework would let a well-supported mechanism of action carry weight where patient populations are too small for randomisation. It is open for comment for 60 days.

5 min read

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