The Grey Zone in ABCD1 Variant Classification
From JIMD Podcasts by Journal of Inherited Metabolic Disease
May 12, 2026 · 33 min
About this episode
The episode discusses the Grey Zone Project and a risk-based framework for interpreting ABCD1 variants in X-linked adrenoleukodystrophy.
Professor Troy Lund and Professor Stephan Kemp discuss the Grey Zone Project and a risk-based framework for interpreting ABCD1 variants in X-linked adrenoleukodystrophy. The episode explores how integrating biochemical, clinical, and longitudinal data may help refine risk stratification and reduce uncertainty in newborn screening. The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked Adrenoleukodystrophy Troy C. Lund, et al https://doi.org/10.1002/jimd.70157
People in this episode
Guests: Professor Troy Lund, Professor Stephan Kemp
Topics covered
- ABCD1 variant classification
- X-linked adrenoleukodystrophy
- risk-based framework
- newborn screening
- biochemical data
- clinical data
- longitudinal data
Keywords
- ABCD1
- X-linked adrenoleukodystrophy
- Grey Zone Project
- risk stratification
- newborn screening
- biochemical data
- clinical data
- longitudinal data
Mentioned in this episode
Organizations: Grey Zone Project, Journal of Inherited Metabolic Disease
Books & works: The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked Adrenoleukodystrophy
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