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 Fabry disease.
Fabry Disease is a rare X-linked genetic disorder caused by a mutation in the gene GLA that impairs the efficient breakdown of fatty acids, or lipids in the cell. This mutation on the X chromosome results in the buildup of fat in the body’s cells, causing issues in the kidney, heart, and nervous system. Females tend to have a variable course of Fabry disease with some experiencing severe symptoms while others experience less severe symptoms than males or none at all. The most common symptoms in females affected by Fabry disease are neuropathic pain, angiokeratoma (a type of skin finding), proteinuria (high levels of protein in urine), buildup in the cornea of the eyes, and cardiac disease. Additionally, 10% of females experience renal failure and need dialysis.
Today, we are joined by Dawn Laney, MS, CGC, CCRC. Dawn is a genetic counselor, instructor, researcher, director of the Emory Genetic Clinical Trials Center, and program leader of the Emory Lysosomal Storage Disease Center at Emory University in the Department of Human Genetics. Dawn received her master’s degree in medical genetics from the Sarah Lawrence College in 1999. She received her certification from the American Board of Genetic Counseling in 2002. Since joining the Emory Division of Medical Genetics in 2002, Dawn has been involved in follow-up of abnormal metabolic newborn screening for the state of Georgia, development and management of a genetic infusion center, and lysosomal storage disease clinical care and research. She is currently the program leader for the Emory Lysosomal Storage disease center and the director of the Emory Genetic Clinical Trials Center. She serves on the Emory biomedical IRB committee. Dawn is the instructor for the Developmental Biology and Human Malformation course at Emory University.
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
