Autosomal Dominant Leukodystrophy

Autosomal Dominant Leukodystrophy (ADLD) is a rare fatal, adult-onset demyelinating disorder that presents in the 4th or 5th decade of life. ADLD patients experience significant disability during the course of the disease and usually survive for only ~10-15 years after the onset of symptoms.  No treatment exists for this fatal disease, representing an urgent and unmet clinical need. ADLD is caused by a duplication of the lamin B1 gene, resulting in increased LMNB1 protein expression and the appearance of nuclear abnormalities. We have developed methodology to quantify those abnormalities by high content analysis with the ultimate goal to perform a high-throughput screen for modifiers of Lamin B1 expression and associated changes in nuclear structure.