We are STRONGER together

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 has 25 years of experience in biotechnology finance, corporate strategy and drug development. Over this period, Ms. Blessing has focused on programs for rare diseases and the application of genetic information to drug development. She is currently Vice President, Corporate Development & Scientific Strategy at Zogenix. Previously, she served as Sr. Vice President Corporate Development at Modis Therapeutics, Vice President Corporate Development at Audentes Therapeutics, and Senior Director Business Development and Alliance Management at 23andMe Inc. 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, UBS Securities, and Needham.

Hugh Rienhoff, Jr., MD

Kimberly Nye, Executive Director

Kim lives in California with her husband, Zach, and their four kids: Tessa, Lily, Maggie and Colton. Both Tessa and Colton have SLC13A5 mutations. Kim holds a BA from Princeton. She was a graduate student at Oxford University when she gave birth to her first daughter, Tessa. Kim and her family are eager to share their story and connect with other families facing citrate transporter disorders. Kim has been involved with the pediatric neurology and medical genetics community in the United States for more than a decade. She is currently on the Steering Committee for REN and she serves as a Lay Reviewer for CURE.  If you have any questions, send Kim an email.

Emily Hsu, Operations Manager

Before becoming operations manager for TESS Research Foundation, Emily had been volunteering for TESS since before their founding in 2015. She began as the Foundation’s webmaster and has since taken on several other roles for the organization, including working as an admin, as a database manager, and as a producer of educational outreach videos. Emily has a BA in English from Bryn Mawr College. She can be reached here.

Audra Loftman, PhD, Program Manager

Audra joins our team with 12 years experience working on a novel treatment option for people living with medically-resistant focal epilepsy. As a member of product development and clinical teams, she helped to bring the first implantable responsive neurostimulator system from development to FDA approval. Audra holds a PhD in biomedical engineering from Duke University, a master’s degree in mechanical engineering from Stanford University, and a bachelor’s degree in mechanical engineering and Russian. Audra is honored to be a part of the TESS team and is determined to help those impacted by Citrate Transporter Disorder SLC13A5. Audra lives in Menlo Park with her husband and three children.

Cat Gasol, MA, Director of Communications

Catherine is the Director of Communications for TESS Research Foundation.  She has a work background in Communications, Sales, Business and Marketing and a Master’s Degree in Communication Management from University of Southern California.  She is the aunt of two children with SLC13A5 Deficiency and knows how devastating this disease is for families.  Catherine is determined to help raise awareness, connect families and find a cure.

Nicole Windisch, Family Outreach

Nicole lives in New York with her husband, Rich and their 3 kids, James, Matthew and Meredith.  Meredith has the SLC13A5 mutation.  Nicole found the TESS Research Foundation while researching Meredith’s condition.  Since then, she has taken an active role in raising awareness and fundraising.  Nicole created our silicone bracelet fundraiser and is determined to help find a cure.

Tammy Wester, Community Outreach

Tammy heads our community outreach and volunteer program.  She has been with TESS Research Foundation since it started, and she is the queen of organization.  In addition to raising awareness at community events, she spearheads our snail mail communications.

Deepti Dubey, PhD, Scientific Officer

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.  You can email Deepti here.

Zachary Nye, PhD

Zach is a financial economist and senior consultant at Stanford Consulting Group. He holds degrees from Princeton University, London Business School and University of California, Irvine. Zach is the parent of 2 children with SLC13A5 mutations.

Jordan Lodato-Hunt, MSW, LCSWA

Jordan currently works for the Duke Clinical Research Institute in North Carolina. She holds a BA in Psychology from Stanford University and her MSW from UNC at Chapel Hill. Most of Jordan’s previous research experience has pertained to health and development, and especially the psychosocial impact of chronic illness.

Celeste McDonnell

Celeste has 5 children, 2 step-children, and 11 grandchildren. Two of her grandchildren have been diagnosed with SLC13A5. Celeste holds a BA from University of Oregon and a Masters in Education from Lewis and Clark. Early in her career, she worked as a special education teacher. Celeste is determined to help improve the lives of those living with the SLC13A5 disease.

William Nichols, MBA, CPA

Bill retired in 2000 as Treasurer of the William and Flora Hewlett Foundation, Menlo Park, California. Bill’s other endeavors included Associate Professor of Accounting and Finance at San Jose State University, Controller and Assistant Treasurer of Saga Corporation, Menlo Park, CA and Certified Public Accountant with Price Waterhouse in San Francisco, California and Sydney, Australia. Bill is a graduate of Stanford University with a degree in AB and an MBA. Bill has a wide range of experiences serving on numerous Board of Directors positions; currently he serves as Treasurer of the Lucile Packard Foundation for Childrens Health and Chair of Investment and Finance Committees, Avenidas, both of Palo Alto, California; past member of Channing House, Palo Alto, California and Trustee of the Investment Fund for Foundations, in Virginia. Bill is a Certified Public Accountant in the state of California and holds membership in Financial Executives Institute; Institute of Management Accountants and California State CPA Society.

Blaine Nye, PhD, MBA, MS

Blaine is President of Stanford Consulting Group, Inc. He holds degrees from University of Washington, Stanford University, and Stanford Business School. Before founding SCG in 1981, Blaine played professional football for the Dallas Cowboys.​​

Maureen Grover

Maureen has 3 children, Landon (9), Brady (8) and Alaina (5). Brady and Alaina have been diagnosed with the SLC13a5 mutation. Her family is from sunny Florida and they spend much of their time on the soccer field or by the pool. As a family they have traveled across the country for answers, treatment and research.

Prasad Vattikutti

Prasad Vattikutti lives in Texas with his wife and 2 young children who have SLC13A5 mutations.