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What happens when newborn screening identifies a genetic variant of uncertain significance? Troy Lund and Stephan Kemp discuss the Grey Zone Project and its risk-based framework for interpreting ABCD1 variants in ALD with Dr. James Nurse of the Journal of Inherited Metabolic Diseases — and the broader hurdles of implementing genetic newborn screening.

The Grey Zone Project presented by Stephan Kemp at the 2025 ALD Connect Annual Meeting.

Our collaborator, Dr. Triana Amen (University of Southampton), presented the development of Peroxi_SPY probes for peroxisome live cell imaging and assessment of ABCD1 protein function at the 2025 ALD Connect Annual Meeting.

Lipidomic profiling in plasma revealed that VLCFA-containing lipids strongly correlate with disease severity in both sexes. Presented by Dr. Yorrick Jaspers at the 2024 ALD Connect Annual Meeting.

Dr. Marc Engelen discussed the importance of natural history studies and new insights at the 2024 ALD Connect Annual Meeting.

Dr. Stephan Kemp discusses the Netherlands’ pilot program for sex-specific newborn screening of ALD with Dr. James Nurse of the Journal of Inherited Metabolic Diseases. Topics include the screening process, the rationale behind sex-specific screening, and the pilot’s main findings.