In an exciting opportunity to showcase their development in the field, six Keck Graduate Institute (KGI) School of Pharmacy and Health Sciences students contributed articles in the fourth annual Rare Neurological Disease Special Report released earlier in March.
Ilona Kravtsova, PharmD ’19, and Jennifer Nguyen, PharmD ’20, conducted an interview with Marshall Summar, who is the chairman of the National Organization for Rare Disorders (NORD) Board of Directors and director of the Rare Disease Institute at Children’s National Health System.
Russle Benson, PharmD ’19, and Vivek Banapur, PharmD ’21, provided an update on pharmacotherapy for epileptic encephalopathies. Jae Chang, PharmD ’19, covered the topic of new therapies and testing for rare neuromuscular diseases.
Also, Caroline Kim, PharmD ’18, collaborated with KGI Professor of Clinical Sciences and NORD Chief Scientific Officer Ronald DeBellis for a report on workable methods of gene therapy.
Excerpts from the four articles are included below. The full text can be viewed on the Neurology Reviews website.
Page 31A Conversation with Marshall Summar, MDIlona Kravtsova and Jenifer Nguyen
Excerpt: “Dr. Summar believes that physicians who specialize in rare diseases are closer to their patients than physicians are in any other medical specialty. They must work very closely with patients’ families, and it is the patients who are the driving force behind the processes of study and care.”
Page 38Update on Pharmacotherapy for Epileptic EncephalopathiesRussle Benson and Vivek BanapurExcerpt: “As understanding of these disorders grows, novel therapeutic targets are constantly being sought out. As genetic causes of epileptic encephalopathies are discovered, gene therapy and gene-editing technology, such as CRISPR/Cas9, may provide powerful new treatment options.”
Page 56Update on New Therapies and Testing for Rare Neuromuscular DiseasesJae ChangExcerpt: “The emergence of promising modes of therapy, such as gene therapy, coupled with the rapidly growing number of pharmaceutical companies entering the rare disease sector, has made the past year one of excitement and promise in the field of rare neuromuscular diseases.”
Page 66‘Hunting’ for Workable Methods of Gene TherapyCaroline Kim and Ronald J. DeBellis, PharmDExcerpt: “Huntington’s disease is particularly appropriate for gene therapy that targets DNA and RNA to modulate protein expression. Molecular therapies have demonstrated accelerating progress for this neurologic disease, and researchers are looking ahead in anticipation that scientific advancement will bring promising novel trials that show improvements in the delivery and distribution of genetic treatments via the central nervous system.”