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SLC13A5 Deficiency

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Research Funding Announcement

***Important Update: If you have submitted a grant application, please email kim@tessfoundation.org immediately to make sure it was received.***

Applications are invited for the TESS Research Foundation Grant for research on SLC13A5 Deficiency, a citrate transporter disorder. The purpose of this grant is to fund research (Up to maximum $100,000 USD) focused on understanding the disease mechanism and finding treatment options for the epileptic encephalopathy caused by mutations in the SLC13A5 gene.

The last date for submitting the application is April 4, 2017.

Details of the application guidelines:

TESS Research Foundation RFA

For any enquiries related to TESS Research Foundation Grant Program, Contact Kim Nye: kim@tessfoundation.org

TESS Foundation Funded Research Projects

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.

Publications Regarding SLC13A5, a gene responsible for Citrate Transport

  • Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency (Source)
  • SLC13A5, neuronal citrate transport, and epileptic encephalopathies (Source)
  • Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia (Source) (PDF)
  • Species-specific Influence of Lithium on the Activity of SLC13A5 (NaCT): Lithium-induced Activation is Specific for the Transporter in Primates (Source) (PDF)
  • Publications of the week: SLC13A5, SNAP25, and JME fMRI endophenotypes (Source)
  • Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life (Source) (PDF)
  • Expression and functional features of NaCT, a sodium-coupled citrate transporter, in human and rat livers and cell lines (Source) (PDF)
  • Human sodium-coupled citrate transporter, the orthologue of Drosophila Indy, as a novel target for lithium action (Source) (PDF)

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:brenda2@stanford.edu

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’sillumina 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.

Brett Graham, MD, PhD

Dr. Graham is currently 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, his lab is interested in the function of the mitochondrion in normal cellular biology and disease. By taking advantage of the strengths of each model system, his lab intends to dissect the pathophysiology of mitochondrial dysfunction to progress towards the ultimate goal of developing novel therapeutic strategies for diseases that exhibit mitochondrial dysfunction.

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