Scientific advisory board

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.

Dr. Jacqueline Burré, PhD

is an Associate Professor of Neuroscience at the Helen and Robert Appel Alzheimer’s Disease Institute and the Feil Family Brain and Mind Research Institute at Weill Cornell Medicine. She obtained her doctorate degree in biochemistry from Goethe University in Germany, where she studied the composition of synaptic vesicles. As a postdoctoral fellow at UT Southwestern Medical Center and then Stanford University, Dr. Burré pursued her interests in neuronal communication with Nobel Laureate Tom Südhof, focusing on the role of α-synuclein in normal brain function and in Parkinson’s disease.

In her own laboratory, she continues the functional studies of synucleins and has expanded her focus on SNAREopathies caused by mutations in VAMP2, SNAP-25 and STXBP1.

The ultimate goal in her lab is to understand molecular mechanisms underlying these diseases, and to use this knowledge as a basis for designing therapeutic strategies.

Dr. Wendy Chung, MD, PhD

is a clinical and molecular geneticist and the Kennedy Family Professor of Pediatrics and Medicine at Columbia University. She received her B.A. in biochemistry and economics from Cornell University, her M.D. from Cornell University Medical College, and her Ph.D. from The Rockefeller University in genetics. Dr. Chung described the first SNAP25 mutation in 2013. Dr. Chung directs NIH funded research programs in human genetics of autism, neurodevelopmental disorders, birth defects including congenital diaphragmatic hernia and congenital heart disease, obesity, breast cancer, and pulmonary hypertension. She leads the Precision Medicine Resource in the Irving Institute at Columbia University.

She has authored over 300 peer reviewed papers and 50 reviews and chapters in medical texts. She was the recipient of the American Academy of Pediatrics Young Investigator Award, the Medical Achievement Award from Bonei Olam, and a career development award from Doris Duke.

Dr. Chung is renowned for her teaching and mentoring and received Columbia University’s highest teaching award, the Presidential Award for Outstanding Teaching.

Dr. Konrad Platzer

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.

Zöe Powis

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.