A European-United States joint initiative has carried out a multidisciplinary study on the pathology and genetics of Nuclease Immune Mediated Brain and Lupus-like (NIMBL) disorders. Standardising diagnostics worldwide with novel biomarkers should improve therapeutic efficacy.
NIMBL conditions include the Aicardi-Goutieres syndrome (AGS), retinal vasculopathy with cerebral leukodystrophy (RVCL) and some cases of systemic lupus erythematosus. Collectively, patients with these genetic disorders suffer from low quality of life and high mortality.
Further details: New therapeutic concepts for NIMBL disorders