KGI Students Contribute Articles for Rare Neurological Disease Special Report

In a prominent display of their knowledge in the field, six Keck Graduate Institute (KGI) students contributed articles in the third annual Rare Neurological Disease Special Report released earlier in March.

The group included five students from KGI’s School of Pharmacy and another from the Postbaccalaureate Premedical Certificate (PPC) program within the School of Applied Life Sciences.

Second-year SOP students Russle Benson and Jae Chang wrote about gene therapy, third-year SOP students Inet Amirian, Maya Maaz, and Stephanie Phan collaborated for a telemedicine article, and PPC student Jonathan Polussa collaborated with UC Davis faculty member Randi Hagerman to cover the topic of fragile X permutation carriers.

Excerpts from the three articles are included below. The full text can be viewed on the Neurology Reviews website.

Page 31
An Overview of the Current Clinical Therapeutic Potential of Gene Therapy
Russle Benson and Jae Chang

Excerpt: “Gene therapy is defined by the FDA as a medical intervention involving the manipulation of genetic materials from living cells. Gene therapy involves delivering a therapeutic gene into the cells of a patient to fix, replace, or remove a disease-causing genetic defect. With recent breakthroughs attracting more excitement and investment to this experimental field of treatment, gene therapy continues to grow as a source of optimism and hope for patients in search of a cure, especially those with rare diseases. To better understand the current state of gene therapy, M. Ian Phillips, PhD, DSc, Director of the Keck Graduate Institute Center for Rare Therapies, was interviewed.”

Page 41
Telemedicine: Benefits for Patients, Providers, and Health Care Institutions
Inet Amirian, Maya Maaz, and Stephanie Phan

Excerpt: “Telemedicine is the use of technology to electronically communicate medical services between health care providers and patients. Telemedicine is growing to include videoconferencing, remote monitoring, mobile health, and telehealth. Telemedicine reduces costs, undoes staff shortages, enables knowledge transfer, and makes medical professionals more accessible. This article focuses on teleneurology as an emerging solution in bridging a gap that renders neurologic care accessible to patients where there are gaps in coverage.”

Page 58
Recent Advances and Treatment for Fragile X Premutation Carriers
Jonathan Polussa and Randi Hagerman, MD

Excerpt: “Although most carriers of the FMR1 premutation (55-200 CGG repeats) have normal cognitive abilities, they are at high risk for psychiatric, medical, and neurologic problems. Sometimes developmental problems can occur in childhood, including ADHD, social deficits, autism spectrum disorder, and anxiety. Diagnosis of the permutation through FMR1 DNA testing is essential to guide treatment of the clinical problems early on, which may postpone or eliminate the onset of the fragile X-associated tremor ataxia syndrome (FXTAS), the neurodegenerative disorder associated with aging of premutation carriers.”