The ABCD1 Variant Registry collects and records changes (variants) in the ABCD1 gene, which causes adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN).
Why Adding Your Variant to the ABCD1 Variant Registry Matters
Dr. Stephan Kemp is a Professor at the Amsterdam University Medical Centers (AMC), University of Amsterdam, the Netherlands. With over 20 years of experience in adrenoleukodystrophy (ALD) research and more than 80 scientific publications, Dr. Kemp is a leading expert in the field. In 1999, together with Dr. Hugo Moser, he helped create the ALD database now known as the ABCD1 Variant Registry.
The ABCD1 Variant Registry collects and records changes (variants or mutations) in the ABCD1 gene which is the gene responsible for adrenoleukodystrophy and adrenomyeloneuropathy (AMN). A genetic variant simply means a change in the DNA. Some variants are harmless (benign), while others known as pathogenic variants can cause disease. In ALD, a pathogenic variant in the ABCD1 gene alters how the body processes very long-chain fatty acids, leading to ALD and AMN. For more information, visit The ABCD1 Variant Registry.
Each variant added to the ABCD1 registry helps researchers and clinicians better understand:
- Whether a specific change in the gene causes disease (pathogenic)
- Clinical effects it may have, such as adrenal disease, myeloneuropathy, or cerebral ALD
The strength of this registry lies in collaboration. Diagnostic laboratories, researchers, physicians, and families all contribute information to improve understanding of how different ABCD1 variants affect people.
By sharing your or your family’s ABCD1 variant, you help strengthen this global resource by:
- Enabling faster diagnosis
- Improving genetic counselling
- Supporting better treatment and care for everyone affected by ALD.
If you would like to add your ABCD1 variant to the registry, please contact: Professor Stephan Kemp at s.kemp@amsterdamumc.nl
