Dedicated to raising awareness of the genetic disorder caused by mutations in the gene Snap25, and working towards finding a cure.
Dr. Baris Alten, MD, PhD
is currently a neurology resident at Massachusetts General Hospital and Brigham & Women’s Hospital combined Neurology Residency Program at Harvard Medical School. After completing his combined MD-PhD (Physician-Scientist Training Program) in 2018 at Hacettepe University, he studied molecular mechanisms of SNAP25 associated developmental and epileptic encephalopathies (SNAP25-DEE) under the supervision of Prof. Ege Kavalali at Vanderbilt University during his postdoctoral fellowship.
By utilizing structural, molecular and electrophysiological methods, his work revealed that structurally clustered mutations within the SNAP25 cause similar functional defects and showed that alterations of spontaneous release are a novel disease mechanism. The detailed investigation of Dr. Alten and his colleagues is considered as an important first step to translate the genetic findings in SNAP25-DEE into personalized therapies for patients suffering from this devastating disease.
is a clinical geneticist and academic researcher from the Institute of Human Genetics, University of Leipzig Medical Center. Dr. Platzer was the co-author of “De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy", published in December 2020. This paper was the first comprehensive description of the phenotypic and genotypic spectrum of SNAP 25 developmental and epileptic encephalopathy (SNAP25-DEE), by reviewing newly identified and previously reported individuals.
Dr. Platzer continues to study and identify new cases worldwide.
is a certified and licensed genetic counselor at Quest Diagnostics, specializing in diagnosing rare diseases through exome sequencing. Prior to joining Quest Diagnostics in 2019, Zöe focused on exome reporting, analysis, and collaborations surrounding rare diseases at Ambry Genetics. At Ambry, Zöe was part of the team that diagnosed the first published patient with SNAP25. This experience strengthened her passion to help patients to obtain accurate diagnoses and connect families, providers and researchers.
Zöe has over 11 years experience in diverse clinical settings including infertility, prenatal, pediatric, oncology and adult genetic counseling with various specialty and outreach clinics to the Native American reservations and under served populations. In addition to clinical care, she has remained committed to advancing the field of genetics clinical care through the direction of a number of research projects. Zöe completed her Bachelor of Science degrees in Molecular and Cellular Biology and Psychology from the University of Arizona and received her Master of Science in Genetic Counseling from Northwestern University. She is an active member of the National Society of Genetic Counselors and volunteers within their education and research endeavors.