Research HighlightTaking a deeper look at activated PI3K-delta syndrome

Research HighlightNew causative mutations reported for familial epilepsy

Research HighlightDifferential diagnosis may help spot NINJAs

Research HighlightUnmasking genetic diseases masquerading as cerebral palsy

Research HighlightRapid test pinpoints enzyme-related immune deficiency

Research HighlightModel provides new clues on genetic hearing loss

FeatureMeeting to fast track progress on rare disease research

New Topics

Research HighlightTaking a deeper look at activated PI3K-delta syndrome

Research HighlightNew causative mutations reported for familial epilepsy

Research HighlightDifferential diagnosis may help spot NINJAs

Research HighlightUnmasking genetic diseases masquerading as cerebral palsy

Research HighlightRapid test pinpoints enzyme-related immune deficiency

Research HighlightModel provides new clues on genetic hearing loss

FeatureMeeting to fast track progress on rare disease research

Research HighlightA united effort to tackle Crohn's disease

Research HighlightFinding relief for a severe blistering disease

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