X-linked adrenoleukodystrophy (X-ALD) is a debilitating disease caused by mutations in the ABCD1 gene. Approximately 30% of affected boys develop the progressive ...

Dominika's one-day-old daughter Emilia is part of the screening programme The entire genetic code of up to 100,000 newborn ...

Most discussion of gene and cell therapy costs focuses on increasing manufacturing efficiency but reducing costs can only go ...

This multidisciplinary standardized approach to evaluating infants who have positive results on newborn screening may serve as a model for other states as they begin the process of screening for ...

population-based newborn study for metachromatic leukodystrophy recently published in the New England Journal of Medicine LONDON and BOSTON, Oct. 23, 2024 (GLOBE NEWSWIRE) -- Orchard Therapeutics ...

Vogler, C.A., Soper, B.W. Attenuation of murine lysosomal storage disease by allogeneic neonatal bone marrow transplantation ... ameliorates CNS disease in the murine model of globoid-cell ...

Screening newborn babies for these rare diseases ... has a rare genetic disorder called early juvenile Metachromatic Leukodystrophy (MLD), which is part of the new screening test.