Contributors to Special Report

KGI Students Share Expertise in Rare Neurological Disease Special Report

In an exciting opportunity to showcase their development in the field, six Keck Graduate Institute (KGI) students from the School of Pharmacy and Health Sciences and the Henry E. Riggs School of Applied Life Sciences contributed articles in the fifth annual Rare Neurological Disease Special Report released earlier in March.

Victoria Nguyen, PharmD ’20, and Quinn Levin, PPC ’19, provided an update on directions in treatment for rare epileptic encephalopathies, which are severe neurological disorders that occur in infancy and early childhood. The pair provided a summary of the key features of three rare epileptic encephalopathies—West syndrome, Lennox-Gastaut syndrome, and Dravet syndrome—and a synopsis of existing and emerging treatments.

Two students in one of KGI’s newest programs, the Master of Science in Human Genetics and Genetic Counseling, reported on how far genetic testing in neurology has come, and where it’s headed. Hayley Bottino, MSGC ’20, and Brynna Nguyenton, MSGC ’20, summarized that although whole-exome genome sequencing has not yet hit the clinical scene, whole-exome sequencing is a main component in clinical genetic testing and is a more affordable option.

Jennifer Nguyen, PharmD ’20, and Ilona Kravtsova, PharmD ’19, provided an update on cannabidiol (CBD) in rare epilepsies. Today, a phytocannabinoid derived from Cannabis Sativa (marijuana) carries a U.S. Food and Drug Administration (FDA) indication for treatment-refractory seizures in patients with Dravet syndrome or Lennox-Gastaut syndrome. The duo reported on the circumstances of the FDA approval and use of CBD in the two rare diseases.

KGI Student Contributions in March 2019 Rare Neurological Disease Special Report

Page 7
“How Far Has Genetic Testing in Neurology Come? Where Is It Headed?”
Hayley Bottino and Brynna Nguyenton

Page 52
“Brief Report: Cannabidiol Approved for Treating Rare Epilepsies”
Jennifer Nguyen and Ilona Kravtsova

Page 54
“Rare Epileptic Enchephalopathies: Update on Directions in Treatment”
Victoria Diep Nguyen and Quinn Levin

The full articles can be viewed on the Neurology Reviews website.