Each month, our Carrier Connections program features a different X-linked condition with the goal to increase awareness and education of X-linked conditions and how they impact females. This month, we are featuring Pelizaeus-Merzbacher disease.
Pelizaeus-Merzbacher disease (PMD) is a rare X-linked condition affecting the brain and spinal cord caused by mutations on the PLP1 gene. It is a type of leukodystrophy, which means it involves abnormal development of white matter in the brain. Since PMD is an X-linked disease, carriers have a 50% chance of passing the condition onto their children. Additionally, some carriers may experience neurological symptoms, particularly if they have a nonsense or null mutation.
Today, we are joined by Dr. Grace Hobson. Dr. Hobson’s research is aimed at understanding molecular mechanisms in PMD that will allow the development of rational treatments and ultimately a cure. During her career, she received grants from the National Institutes of Health, the PMD Foundation, the Kylan Hunter Foundation, and the Carson Scott Suter Foundation to fund this work. Dr. Hobson’s contact with families, genetic counselors, and physicians through her molecular diagnostics work has allowed her to refer families to the PMD Foundation for information and support. Dr. Hobson has participated in meetings, symposia, workshops and family conferences on PMD. In addition, she helped to organize the family meeting in 2000 that launched the PMD Foundation. She also hosted symposia for PMD families and researchers at the Alfred I. duPont Hospital for Children in 2003, 2009, and 2013, and a Virtual PMD Symposium in 2020.
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
