We are STRONGER together
Scientific Advisory Board
Brenda Porter, MD, PhD
Dr. Porter is currently an Associate Professor of Neurology at Stanford University. She received her M.D. and Ph.D. from Washington University in St. Louis, and completed a residency in pediatrics at St. Louis Children’s Hospital; pediatric neurology and pediatric epilepsy at Children’s Hospital of Philadelphia. Dr. Porter is the treating physician for Tessa and Colton Nye. Now that a cause for Tessa and Colton’s seizures and other neurologic problems has finally been identified, Dr. Porter is focused on determining how to best treat them and other children with SLC13A5 mutations. It is her hope that through this website greater awareness will be raised for the disorder and increased communication amongst other affected families and the health care professionals providing treatment to their children. Dr. Porter is very interested in speaking with other doctors taking care of children with SLC13A5 mutations. She can be reached directly via email.
Matthew Bainbridge, PhD
Dr. Bainbridge is the President and CEO of Codified Genomics. Matthew has worked with high-throughput sequencing since its inception. At Canada’s Michael Smith Genome Sciences Centre (BCGSC), he constructed the first algorithms for RNA seq, chip-seq, and structural rearrangement discovery for the 454 and Solexa sequencing platforms. He later received his PhD in structural and computational biology and molecular biophysics from his work at the Baylor College of Medicine Human Genome Sequencing Center (BCM-HGSC). There he helped develop the BCM-HGSC’s illumina analysis pipeline, capture-resequencing analytics and co-developed capture reagents, both regional and whole exome including some of the largest capture targets ever sequenced. His analytic tools were central to the analysis of one the first personal genomes used for medical diagnostics[Lupski]. Later, he led the team that discovered the molecular cause of DRD in siblings. This information was used, for the first time, to alter the management and medications the children received. Later, he used WES to find a novel gene for a previously undescribed disease, marking one of the first times WES was used to molecularly describe a disease prior to its clinical description.
Tracy Dixon-Salazar, PhD
Dr. Dixon-Salazar’s desire to get her Ph.D. was inspired by her daughter who developed a severe epileptic encephalopathy at the age of 2 years old. She did her Ph.D. and post-doctoral work at the University of California, San Diego where she studied the mechanisms of brain development and synaptic plasticity, identified genetic causes of neurological disorders in children, and investigated precision therapeutics in cell-based and animal models of pediatric brain disease. During her post-doctoral fellowship, and after 16 years of watching daily, unrelenting seizures in her child, Dr. Dixon-Salazar’s research uncovered the driver of her daughter’s epilepsy and identified a precision therapy that saved her daughter’s life.
With more than 15 years of direct research experience, 18 years of non-profit experience, and 21 years caring for a child with a rare disease, Dr. Dixon-Salazar embodies the concept that patient-centered, patient-inclusive research is the key to meaningful medical solutions. She is an accomplished scientist, skilled strategist, highly sought-after speaker, and staunch advocate for rare disease, medical research, and patient-centricity.
Daniel Lowenstein, MD
Dr. Lowenstein is the Robert B. and Ellinor Aird Professor and vice chair in the Department of Neurology at UC San Francisco. He is also currently the executive vice chancellor and provost at UC San Francisco. Dr. Lowenstein received his BA degree in Mathematics from the University of Colorado, an MS degree in Man-Environment Relations from The Pennsylvania State University, and an MD degree from Harvard Medical School. He completed his residency in Neurology at UCSF and served a two-year fellowship in Nobel laureate Stanley Prusiner’s Laboratory, investigating the sequence homology of the PrP gene in various rodent species. Dr. Lowenstein joined the faculty in the Department of Neurology at UCSF, where he established the UCSF Epilepsy Research Laboratory. His laboratory studies have addressed the fundamental mechanisms of neuronal network remodeling that occur during epileptogenesis or the process in which a normal network transforms into a hyperexcitable network capable of producing or relaying seizure activity. He also helped create the Epilepsy Phenome/Genome Project (EPGP), an international, multi-institutional, collaborative study that is collecting detailed phenotype date on 5,250 subjects with specific forms of epilepsy. Dr. Lowenstein’s main clinical research has been on the management and treatment of patients with status epilepticus or unusually prolonged seizures. His epilepsy research has been recognized by several honors and awards, including the American Epilepsy Society’s 2001 Basic Research Award, 2012 Lennox Award given to a clinician-scientist who is the most outstanding investigators in the field of epilepsy research and the Ambassador Award from the International League Against Epilepsy.
Dr. Lowenstein has also helped to define scientific policy on a national level, having served on a number of committees, including as a member of the Advisory Council of the National Institute of Neurological Disorders and Stroke (NINDS) and Chair of the NINDS Clinical Trials Subcommittee from 2000-2004. Dr. Lowenstein was elected to the National Academy of Medicine for 2017, one of the most prestigious honors in the field of health and medicine.