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Publications Regarding SLC13A5, a gene responsible for Citrate Transport

Research on SLC13A5 Deficiency is moving quickly. Click below to read the latest publications.

Mutations in SLC13A5 Deficiency Patients

The current grant cycle is CLOSED for the TESS Research Foundation Grant for research on SLC13A5 Deficiency, a Citrate Transporter Disorder. Stay tuned for future grant opportunities!

To see details on our 2018-2019 application guidelines, click HERE.

For any inquiries related to TESS Research Foundation Grant Program, Contact Kim Nye:

Meet Our Grant Recipients

TESS Research Foundation is excited to announce the recipients of the foundation’s 2018-2019 research grants.

“Last year TESS funded leading basic scientists to develop tools for better understanding SLC13A5.  This year we’re still funding leading scientists from around the world, but these scientists are using those tools to develop a cure,” said Matthew Bainbridge, PhD, TESS Research Foundation Scientific Advisory Board Member.  “TESS has taken a two-pronged attack on SLC13A5 deficiency.  The first, to identify pharmaceutical interventions that can correct or by-pass SLC13A5 function and the second, to completely replace SLC13A5 with a fully functional version with gene therapy. These two methods are using cutting edge technology and represent the best hope for the kids and families who suffer from this disease,” said Bainbridge.

Grants in total $560,000 have been awarded since we started TESS Research Foundation in 2015. The projects we have funded are listed below.

We are grateful to our donors who helped to make these grants possible, moving critical research about SLC13A5 Deficiency forward. With your continued support, we are working towards a healthier future for children suffering from SLC13A5 Deficiency.

TESS Foundation Funded Research Projects


SLC13A5 Patient-derived Cellular Models for the Identification of Biomarkers and Drug Screening Strategies.

Gaia Novarino, PhD

Institute of Science and Technology Austria

We will develop cell culture models based on SLC13A5 patient-derived induced pluripotent stem cells that recapitulate disorder pathophysiology. These models are particularly suited to address early developmental brain pathologies. Combining single-cell transcriptomics, cellular and network electrophysiology as well as morphology we will identify pathophysiological changes between control and patient-derived cell culture models that will help understanding pathology mechanisms and identify biomarkers. Experiments for biomarker identification will be designed to allow straightforward application for medium to high-throughput drug and genetic screening assays. We believe this approach will identify SCL13A5 disorder pathology relevant biomarkers and disorder mechanisms which will be directly applicable to search for pharmacological treatments.

Screening small molecules for the activation of NaCT mutants in SLC13A5 Deficiency.

Da-Neng Wang, PhD
NYU School of Medicine

SLC13A5 Deficiency is caused by mutations in the SLC13A5 gene. This gene encodes a sodium-driven citrate transport protein named NaCT. Disease-causing mutations abolish the uptake of citrate in neurons of the brain. We plan to develop a simple and efficient screening platform to search for small molecule activators that can rescue the mutants’ citrate transport activity.

Gene Therapy for SLC13A5 Deficiency.

Rachel Bailey, PhD
UT Southwestern Medical Center

Current treatment for SLC13A5 deficiency is limited to symptomatic palliative care and there remains an urgent need for an effective treatment that targets the cause of the disease. Gene therapy is one of the emerging strategies for the treatment of inherited disorders like SLC13A5 deficiency by delivering therapeutic genes directly to a patient’s cells in place of drugs or surgery. The proposed research will test a gene therapy approach in mice with SLC13A5 deficiency. A very similar gene therapy approach is currently being tested in humans with Giant Axonal Neuropathy. Results from the studies under this proposal could eventually allow the translation of this approach into a human treatment.


The Na+/Citrate Transporter In Human Neurons.

Anne Murphy, PhD and Ana M. Pajor, PhD

University of California San Diego

In this project, Dr. Pajor, Dr. Murphy and their teams will investigate the effect of loss of SLC13A5 expression on transport of citrate and succinate in cultured human neurons. They plan to study the metabolic and bioenergetic consequences of this loss to understand how it results in the development of epilepsy.

Drug Discovery in Slc13a5 Mutant Zebrafish.

Deborah M. Kurrasch, PhD
University of Calgary

Over the past funding period, Dr. Kurrasch and her team developed a zebrafish model that harbors a frameshift mutation in slc13a5. In the proposed project, she will continue testing this zebrafish model to screen a new repurposed drug library and further validate the drugs uncovered in these screens.

Creation Of Humanized Mouse And Fly Models Of SLC13A5 Mutant Syndrome To Determine The Cause Of Neurological Dysfunction And To Identify And Test Treatments.

Stephen L. Helfand, MD
Brown University

In this project, Dr. Helfand and his collaborators aim to create a humanized mouse model in which a normal mouse SLC13A5 gene will be replaced by either a normal human SLC13A5 gene or a mutant human SLC13A5 gene. Dr Helfand has also created fly models of SLC13A5 and aims to study them further to pinpoint the physiological pathway that is affected due to SLC13A5 mutation. These mice and fly models will be instrumental in understanding how human SLC13A5 mutations cause neurological deficits and will be used to test and validate proposed treatments.


The Pajor Lab.

The main focus of the Pajor Lab is to understand the mechanism of sodium-coupled transporters, particularly the Na+/dicarboxylate cotransporters (NaDC) from the SLC13 family. A number of mutations have been identified in the NaCT transporter gene (SLC13A5) in patients with epileptic encephalography. The Pajor Lab explores what these mutations do to the function of NaCT. By studying the effects of these mutations, we may be able to identify a treatment for this disease.

SLC13A5 Bio-Bank at Stanford.

This project, spearheaded by Dr. Brenda Porter, creates a Bio-Bank of blood and skin samples of SLC13A5 patients and their parents. These blood and skin samples will be made available to researchers studying SLC13A5 and its role in epilepsy. Currently there are no animal models that recapitulate the neurological phenotype of SLC13A5. Ideally, the mechanisms underlying SLC13A5 mutations need to be studied in human patients and in their cells. Since neurons maintain the genetic profile of an individual, studying neurons derived from human induced pluripotent stem cells (hiPSC) is attractive as a method for studying neurons from SLC13A5 patients. A Bio-Bank is the first step in creating hiPSC and neuronal cell lines.

Baylor College of Medicine and Texas Children’s Hospital.

Dr. Brett Graham and Dr. Sarah Elsea are collaborating to screen and monitor metabolomic markers for SLC13A5 Deficiency and translate them into precision medicine.  They have currently enrolled several patients with SLC13A5 mutations in a Triheptanoin drug trial.  Triheptanoin, made by Ultragenyx, is intended to provide patients with medium-length, odd-chain fatty acids. Due to its odd-chain properties, triheptanoin is broken down into metabolites that replace deficient intermediates in the Citric Acid Cycle, a key energy-generating process that is likely disrupted by SLC13A5 mutations.

Our 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 at

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.

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

Hugh Y. Rienhoff, Jr. M.D. is a San Francisco Bay area physician and entrepreneur.  Imago BioSciences is his forth start-up. He was CEO of FerroKin BioSciences until sold to Shire plc in 2012.  He received a Bachelor of Arts degree from Williams College, studied mathematics at Harvard University and received the Doctor of Medicine degree from the Johns Hopkins University School of Medicine.  He trained in Internal Medicine as a member of the Osler Housestaff at the Johns Hopkins Hospital where he was later a fellow in hematology and clinical genetics. He continued his training at the Fred Hutchinson Cancer Research Center in Seattle, Washington as a Howard Hughes Investigator.

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