ATTEND: A Newborn Screen Initiative
ATTEND's goal is to achieve rapid identification and confirmation testing across sites and states in order to initiate treatment when children are pre-symptomatic. Once we have accomplished this locally in the state of TN, we will expand our efforts and share training materials and guidelines with collaborating institutions in order to standardize our approach across states. This will help us define best practices and streamline the entire process from screening to treatment...
Our First Fabry Clinic!
On Friday, January 29th we had our first Fabry Clinic at VUMC. Fabry Disease is a rare genetic lysosomal storage disorder that affects the lysosomal enzyme, a-Gal A. Our patients with Fabry can have symptoms that impact the nervous system, heart, and kidneys. Our specialized team consists of a Neurologist (Dr. Kevin Ess), Cardiologist (Dr. Justin Godown), Geneticist (Dr. Thomas Morgan), Genetic Nurse Practitioner (Allison Shields), and Clinical Coordinator (Elizabeth Hinckley). Together our team focuses on the diagnosis and treatment of Fabry...
Featured in January's Pediatrics Staff Newsletter!
Q: So, Pediatric Rare Disease Center, what's your story?
A: The Pediatric Rare Disease Center is a multidisciplinary center comprised of interdisciplinary teams with expertise in neurology, pediatrics, genetics, nephrology, cardiology, and more! Our mission is to provide excellent clinical care and participate in cutting-edge research to help children with rare diseases and their families...