Organizers of UT Southwestern Rare Disease Center of Excellence’s inaugural scientific symposium had one overarching goal in mind – to help build connections.

The half-day event on Sept. 16 included four sessions of presentations by faculty and trainees working in all areas of rare diseases at UT Southwestern. The focus areas included neurology, lipodystrophies, gene therapy, and big-picture topics such as clinical trial and commercialization resources.

Angela Scheuerle, M.D., Professor of Pediatrics and Pathology and Director of the Rare Disease Center, organized the event to share a broad overview of the work underway at UT Southwestern, provide an opportunity to meet others, and present best practices.

“I’ve said for a long time that the most important resource in this business is a colleague,” said Dr. Scheuerle, a pediatric geneticist who provides clinical care at Children’s Health. Dr. Scheuerle led the National Organization for Rare Disorders (NORD) application effort that resulted in UT Southwestern being selected as one of 31 Rare Disease Centers of Excellence in November 2021, a reflection of the Medical Center’s commitment to rare disease research, training, and clinical care throughout an individual’s life span.

She said that increasing awareness of available resources is crucial because it leads to better collaboration and connection among clinicians, which in turn results in faster diagnoses and standardization of care. Collaboration is one of the main goals of all NORD Rare Disease Centers of Excellence.

Rachel Bailey, Ph.D., who has been named Associate Director of the Rare Disease Center at UTSW, presented her research using gene therapy for SLC13A5 deficiency, a severe and rare form of epileptic encephalopathy. Dr. Bailey said she looks forward to working with Dr. Scheuerle to expand awareness of the work happening at UT Southwestern.

Other topics ranged from multidisciplinary care in Duchenne muscular dystrophy and cardinal signs of pediatric dystonia to the molecular genetic basis of severe hypertriglyceridemia in children.

Dr. Scheuerle said she plans to expand the symposium to a full-day event in 2023.