While autosomal dominant leukodystrophy (ADLD) remains a rare, difficult-to-treat genetic disorder, researchers across the globe are collaborating to better understand this disease and develop therapeutic options.
First described in 1984, the genetic defect causing ADLD was not identified until 2006 by Dr. Quasar Padiath at the University of California, San Francisco. Dr. Padiath now leads ADLD studies at the University of Pittsburgh. His lab and others worldwide are unraveling why duplications in the LMNB1 gene lead to myelin loss and nerve damage in ADLD patients.
Notable research groups investigating ADLD are Dr. Alfredo Brusco (in Torino, Italy), Dr. Raili Raininko (in Uppsala, Sweden), Dr. Ying-Hui Fu (in San Francisco, USA), Dr. Pietro Cortelli (in Bologna, Italy), Dr. Nicolas Dupre and Dr. Robert LaForce (Quebec, Canada), Dr. Camilo Toro (Washington DC, USA, and beyond. Some are focused on illuminating disease mechanisms, while others examine clinical aspects like disease progression and patient care. By sharing key learnings across institutes, these teams aim to accelerate treatments.
Several organizations offer genetic testing to confirm ADLD diagnoses and identify family members at risk. While quite rare globally, ADLD patients have been identified across the Americas, Europe, and Asia. If you encounter someone affected by ADLD, please direct them to adld.center to join the patient registry.
Connecting those touched by this rare disorder is critical, as the ADLD community advocates for research and supports newly diagnosed families. By uniting patients, researchers, and clinicians, we hope to turn promise into treatment and provide hope to all facing ADLD.