Kimberly Goodspeed, MD

At-Large Director (2024-27), Clinical & Translational Council Chair

I am a Child Neurologist and Neurodevelopmental Disabilities specialist and recently transitioned to a Medical Director position with Ultragenyx to focus full time on genetic therapy development for neurological disorders.

In my previous position, I was an Assistant Professor in the UT Southwestern Department of Pediatrics Division of Neurology, where I primarily conducted clinical and translational research in rare genetic neurodevelopmental disorders, including SLC6A1-Related Neurodevelopmental Disorder (SLC6A1-NDD). Throughout my tenure at UTSW, I have had the distinction of being a Rare Disease Clinical Research Network scholar, NeuroNEXT Early-Stage Investigator Fellow,a UTSW Dedman Family Endowed Scholar in Clinical Care, and KL2 Scholar. I have conducted many phenotyping studies of rare diseases including a natural history and biomarker discovery study of Phelan-McDermid Syndrome, a retrospective case series on Pitt-Hopkins Syndrome, a remote cross-sectional study of Congenital Disorders of Glycosylation type SRD5A3, and a comprehensive cross-sectional study of aspartylglucosaminuria (AGU), which included evaluation of auditory/visual evoked potentials and identified a novel imaging biomarker using MR Spectroscopy.

Most recently, I was the PI of a prospective natural history study of SLC6A1-NDD that was developing an EEG biomarker and exploring the use of MR Spectroscopy to measure brain GABA levels. With my transition to Ultragenyx, I will be working on the antisense-oligonucleotide program for Angelman syndrome, which has delivered promising results in the early phase clinical trials. The new generation of therapies challenge how we approach clinical trial design now, but also require innovations in manufacturing, access, and delivery as products attain regulatory approvals.