We are STRONGER together
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.
Deepti Dubey, PhD
Dr. Dubey is scientific officer for TESS Research Foundation. She received her PhD from Indian Institute of Technology, Kanpur, India. She later did her postdoctoral training in the department of Neurology at Stanford University. Her research career is focused on understanding underlying molecular mechanisms of epileptic disorders including Lafora Disease, a rare genetic form of progressive myoclonus epilepsy and temporal lobe epilepsy induced by brain insults using cell and animal models. Dr. Dubey is interested in applying her research experience to facilitate understanding of rare genetic disorders like SLC13A5 deficiency along with exploring immediately available treatment options.
Dr. Graham is an Assistant Professor of Molecular and Human Genetics at Baylor College of Medicine. He received his M.D. and Ph.D. from Emory University School of Medicine and completed a residency in Pediatrics as well as a fellowship in Molecular and Human Genetics at Baylor College of Medicine. Dr. Graham’s clinical interests include Genetic Disorders and Metabolic Disorders. His research interests include studying the genetics of metabolic function and disease through the manipulation of model systems, particularly the mouse and the fruit fly, Drosophila melanogaster. Specifically, we are interested in the function of the mitochondrion in normal cellular biology and disease. By taking advantage of the strengths of each model system, we intend to dissect the pathophysiology of mitochondrial dysfunction to progress towards the ultimate goal of developing novel therapeutic strategies for diseases that exhibit mitochondrial dysfunction.