Scientific Advisory Board
Brenda Porter, MD, PhD
Dr. Porter is currently a Professor of Neurology at Stanford University Medical Center. 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.
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.
Ana Pajor, PhD
Dr. Ana Pajor retired as a Professor from Skaggs School of Pharmacy and Pharmaceutical Sciences at UCSD in June 2018. She received her Ph.D. in Physiology from the University of Arizona (1988) and completed her Postdoctoral training at UCLA. Dr Pajor is an expert in sodium-coupled transporters, particularly the Na+/dicarboxylate cotransporters (NaDC) from the SLC13 family. She has been studying the SLC13 transporters for more than 25 years. She first isolated the cDNA coding for NaDC1 using the technique of expression cloning in 1995. NaDC1 and other members of the SLC13 family, including several NaDC3 orthologs, have been the focus of her research ever since. Her lab made fundamental discoveries in the area of structure-function relationships in the SLC13 family, as well as identifying bacterial homologs of NaDC1. Later, she started working on the Na+/citrate transporter NaCT (SLC13A5) to characterize specific inhibitors and to characterize genetic mutations in SLC13A5 that results in the citrate transporter disorder (SLC13A5 Deficiency/EIEE25). Dr. Pajor has received several research grants from TESS Research Foundation. She was also the recipient of our very first “TESS Research Superhero” award. Now that she is retired from the lab, we are thrilled to have her as an Advisor.
Dawn Blessing, MBA
Ms. Blessing is an expert in Rare Disease Drug Development and Corporate Strategy. She earned a B.S. in Chemistry from the University of Richmond and an M.B.A. from Columbia Business School. She served as Vice President, Corporate Development at Audentes Therapeutics from April 2014-September 2017. She has 18 years of experience in biotechnology finance, business development, and alliance management. Over this period, Ms. Blessing has focused on programs for rare diseases and the application of genetic information to drug development. Before joining Audentes, Ms. Blessing served as Senior Director, Business Development and Alliance Management at 23andMe Inc., a personal genetics company. In her role at 23andMe, she led multiple genomic research programs with partners in the pharmaceutical industry. Prior to 23andMe, Ms. Blessing spent 8 years in Business and Corporate Development at BioMarin Pharmaceutical Inc., originating or leading successful licensing efforts in multiple therapeutic areas for rare diseases, including preclinical and clinical-stage products. Prior to her role in industry, Ms. Blessing was a Biotechnology Equity Research analyst at Cowen and Company LLC, UBS Securities LLC, and Needham and Company LLC.
Hugh Rienhoff, Jr., MD
Dr. Rienhoff is a physician, entrepreneur and founder of several biopharmaceutical companies. He presently serves as CEO of Imago BioSciences, a clinical-stage, venture-backed company focused on the treatment of hematologic malignancies. Previously Dr. Rienhoff was the founder and CEO of FerroKin Biosciences, a clinical stage company acquired by Shire in 2012. He has more than 25 years experience as both a venture investor and entrepreneur in the life science sector. He was a partner at New Enterprise Associates and later, a director of Abingworth Management Ltd., running their US operation.
He received his M.D. from the Johns Hopkins University School of Medicine and his B.A. from Williams College.