Wendy Chung, MD, PhD
Dr. Wendy Chung is a clinical and molecular geneticist who directs the Clinical Genetics program at Columbia University and performs human genetic research. She is an associate professor of pediatrics and medicine. Dr. Chung directs NIH funded research programs in many human genetic conditions including autism, pulmonary hypertension, and birth defects. She leads the Simons VIP study characterizing genetic forms of autism and works on novel treatments for autism. She is a member of the National Advisory Council for Human Genome Research and the Genomics & Society Working Group. Dr. Chung enjoys the challenges of genetics as a rapidly changing field of medicine and strives to facilitate the integration of genetic medicine into all areas of health care in a medically, scientifically, and ethically sound, accessible, and cost effective manner.
Orrin Devinsky, MD
Dr. Orrin Devinsky is professor of neurology, neurosurgery, and psychiatry at the New York University School of Medicine. His epilepsy research includes sudden unexpected death in epilepsy (SUDEP), cannabinoids, phenome-genome correlations, autism, neural markers and imaging, therapeutic electrical stimulation, quality-of-life, cognitive and behavioral issues, and surgical therapy. He is the principal investigator for the North American SUDEP Registry and on the Executive Committee of the SUDEP Institute.
He has chaired several committees of the Epilepsy Foundation and the American Epilepsy Society and has served as a Board member of both organizations. He founded Finding A Cure for Epilepsy and Seizures (FACES) and co-founded the Epilepsy Therapy Project and epilepsy.com. Outside interests include behavioral neurology (intracranial and functional imagining studies to understand language and sensory processing), evolutionary biology and history of neuroscience.
Teresa Mastracci, PhD
Dr. Teresa Mastracci is an Assistant Professor of Biology at Indiana University-Purdue University-Indianapolis and adjunct Assistant Professor of Biochemistry and Molecular Biology at the Indiana University School of Medicine.
The research in her laboratory is focused on understanding how pathways that direct protein synthesis drive organ development and cellular regeneration. Her research was the first to implicate DHPS and hypusine biosynthesis as critical for pancreas development. Because of this work, she was awarded a prestigious Career Development Award by the Juvenile Diabetes Research Foundation, which funds, in part, the exploration of factors that may be exploited to create new regenerative therapies for the treatment of diabetes.
Dr. Mastracci received her Ph.D. from the University of Toronto in Canada and completed her postdoctoral fellowship at Columbia University in New York. In 2017, she was recognized as one of the Indianapolis Business Journal’s Forty Under 40, and was named one of the top Ten Under 40 up & coming stars in Biopharma Research and Business by Genetic Engineering News.
Chengzu Long, PhD
Chengzu Long, PhD, a Principal Investigator and Assistant Professor, is currently conducting research on advancing novel genome editing technology to model and treat monogenetic diseases at New York University School of Medicine’s Leon H. Charney Division of Cardiology and The Helen and Martin Kimmel Center for Stem Cell Biology. After receiving his bachelor’s degree in bioengineering, he earned a Master of Science degree in microbiology and then worked at the National Institute of Biological Science, Beijing, where he studied pathogen-host interactions. Dr. Long then went to the University of Texas Southwestern Medical Center for his doctoral work and joined Dr. Eric Olson’s laboratory to study mechanisms of degenerative disease using mouse models with genetic modifications.
Using clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein 9 (Cas9) genome editing, Dr. Long successfully prevented muscular dystrophy in a mouse model of Duchenne muscular dystrophy (DMD) (Long et al., Science. 2014; Long et al., Science. 2016). This paved the way for novel genome editing-based therapeutics in DMD. Dr. Long has advanced genome editing to cells from DMD patients by engineering the permanent skipping of mutant exons in the genomes of DMD patient-derived induced pluripotent stem cells (iPSCs). To address several challenges for clinical applications of gene editing in humans and to test these human DMD guide RNAs in animal models, they generated “humanized” mouse models of DMD by introducing the human exon mutations into the mouse Dmd locus. Genome editing with novel strains of humanized mice, as well as cardiomyocytes derived from patients cardiomyocytes (Long et al. Science Advances. 2018), has enabled researchers to optimize the correction of DMD mutations, providing a path toward a potential cure of the disease in patients.
Long lab’s long-term goal is to adapt gene editing to postnatal tissues and to leverage this approach to correct epilepsy and other neuromuscular diseases caused by mutations in humans. Specifically, Long lab is working closely with the NYU Langone’s Comprehensive Epilepsy Center to establish a publicly available online resource that identifies the most optimal DHPS, SCN1A and CDKL5 sequences for targeted genome editing that most effectively rescue gene function for corresponding epilepsy patients. Furthermore, these studies will generate novel insights into the molecular pathophysiology of genetic epilepsy, which in turn will drive the formulation of new models both drug discovery and gene therapy that will ultimately, permanently cure genetic epilepsy.
Ana Mingorance, PhD
Ana Mingorance, PhD, is the Chief Development Officer of the Loulou Foundation, the Scientific Director of the Dravet Syndrome Foundation Spain, and an independent consultant in genetic epilepsy syndromes and orphan drug development.
A neuroscientist by training, Ana first worked in drug discovery and development as a laboratory head and discovery project leader at the global pharmaceutical company UCB Pharma. She then founded her own boutique consultancy firm, Dracaena Consulting, to focus on orphan neurological diseases and to work more closely with patient organizations. Ana is a strong advocate for patient involvement in drug discovery and development, and through her multiple roles she joins forces with the patient communities to accelerate the development of new treatments. She is also a regular speaker at rare disease and orphan drug development conferences.
Ana received her PhD in neuroscience from the University of Barcelona in Spain, and completed an EMBO postdoctoral fellowship at the University of British Columbia in Vancouver, Canada.
Alex Crawford
For more information on Alex Crawford, visit: Theracule.
Myung Hee Park, PhD
Dr. Park received her BS from Seoul National University, Korea, and her PhD in chemistry from Brown University. Dr. Park completed her postdoctoral work in cell biology at the Massachusetts Institute of Technology. In 1979, she joined the Laboratory of Biochemistry at NIDCR as a visiting fellow and discovered a novel posttranslational modification pathway that converts a specific lysine of the eukaryotic translation factor, eIF5A, to hypusine by the polyamine spermidine. Dr. Park was appointed chief of the Molecular and Cellular Biochemistry in NIDCR in 1998. Dr. Park is recognized for her pioneering research on the hypusine modification of eIF5A and on the functions of polyamines and eIF5A as key regulators in mammalian cells.
Chae Ok Yun
For more information on Chae Ok Yun, visit: Hanyang University.