SURF1 Project

Leigh syndrome associated with mutations in the SURF1 gene severely disables affected children.  At the basic mechanism level, the brains of children lacking this gene cannot generate adequate energy for proper functioning of the brain.  Unfortunately, there is neither cure nor treatment for the disease.  In the present day and age, doctors can diagnose this easily, know its precise cause (missing SURF1 function), but have nothing to offer these children and families. 

 

The goal of this project is to replace the missing SURF1 gene in the children suffering from its absence. The gene replacement is carried out using a special virus called AAV9.  This virus is a safe virus that normally lives within us humans.  The SURF1 gene is packaged in the virus, and the virus delivers the gene to brain cells. 

 

As a first step, we need to show that this is feasible and safe in the mouse model of the disease, i.e. in mice likewise lacking the same gene.  This pre-clinical work (mouse experiments) will entail:

  • Establishing a colony of SURF1 deficient mice in our laboratory. 

  • Assessing for safe and efficacious delivery of the viral vector and the SURF1 cargo to the mouse central nervous system.  

  • Assessing the effectiveness of the treatment in the mouse.  Specifically, we will test whether the brain energy metabolic defect that results from absence of SURF1 is corrected, at least in part, in the mice receiving the gene replacement.

 

Once we show that the treatment works, even if partially, in the mouse model of the disease, and does not cause harm, we will obtain permission from the Food and Drug Administration to initiate a human clinical trial.  If successful, children and families afflicted with this terrible disease will no longer be told ' there is nothing I can do for you', but instead be told, 'SURF1 deficiency, OK, here's what we're going to do...'

 

The Research Team

Dr. Berge Minassian

Pediatric neurologist Dr. Berge Minassian has special expertise in caring for patients with epilepsy, neurodegenerative diseases, and neurogenetic conditions.  A physician-scientist, Dr. Minassian has spent much of his 20 years of research seeking the underlying genetic causes of epilepsy. He works closely with Children's Medical Center Research Institute at UT Southwestern.

 

“I’ve been working to piece together the brain’s genetic underpinnings – to help us better understand both how the brain works overall and how faulty genes can lead to electrical problems in the brain in conditions such as epilepsy,” he says.

Board certified and fellowship trained, Dr. Minassian serves as Chief of Pediatric Neurology at UT Southwestern Medical Center and leads the Neurosciences Center at Children’s Health in Dallas.

“One of the main reasons I came to UT Southwestern was to develop a gene therapy program aimed at curing various types of epilepsy,” he says. “I really want to help make a fundamental difference in families’ lives by altogether eliminating the problem in as many cases as we can.”

 

He also serves on the faculty of the Children’s Health Epilepsy Center, which he notes is “one of the top centers of its kind in the country, if not the world. Everyone who works here does a fantastic job of caring for our patients.”

Dr. Steven Gray

Dr. Steven Gray earned his Ph.D. in molecular biology from Vanderbilt University in 2006, after receiving a B.S. degree with honors from Auburn University. He performed a postdoctoral fellowship focusing on gene therapy in the laboratory of Jude Samulski at UNC Chapel Hill. He is currently an Associate Professor in the Department of Pediatrics at the University of Texas Southwestern Medical Center.

Dr. Gray’s core expertise is in AAV gene therapy vector engineering, followed by optimizing approaches to deliver a gene to the nervous system. His major focus is in AAV vector development to develop vectors tailored to serve specific clinical and research applications involving the nervous system. These include the development of novel AAV capsids amenable to widespread CNS gene transfer. As AAV-based platform gene transfer technologies have been developed to achieve global, efficient, and in some cases cell-type specific CNS gene delivery, his research focus has also included preclinical studies to apply these reagents toward the development of treatments for neurological diseases. Currently these include preclinical studies for Rett Syndrome, Giant Axonal Neuropathy (GAN), Tay-Sachs, Krabbe, AGU, and Batten Disease, and have expanded into human clinical studies to test a gene therapy approach for GAN.

Dr. Gray has published over 50 peer-reviewed papers in journals such as New England Journal of Medicine, Molecular Therapy, Nature Biotechnology, Gene Therapy, and The Proceedings of the National Academy of Sciences. He also has 3 pending patents. His research is funded by the National Institute for Neurological Disorders and Stroke, as well as numerous large and small research foundations. Dr. Gray was recently recognized with the 2016 Healthcare Hero award by the Triangle Business Journal, and his work on GAN was featured in a story by the CBS National Evening News in 2015.

Dr. Saima Kayani

Dr. Saima Kayani is a Child Neurologist with additional training in Medical Genetics. Her advanced training helps her better understand the clinical and basic molecular mechanisms of neurogenetic diseases. She is board certified in pediatrics and neurology. Throughout her fellowships at UT Southwestern, she worked seeing complex patients in Child Neurology and Medical Genetics and the Rare Brain Disorders Clinic at Children’s Medical Center, and also scientifically collaborated in the rodent lab to understand the underlying genetic and physiological components of several rare disorders currently under study.

Dr. Kayani is passionate about helping children with rare disorders and finding better ways to treat these children. She is devoted to research, not only the clinical research to understand the natural history of rare disorders but also translational research to bring cutting edge therapies to our patients.

Please reload

Curesurf1
Contact Us
partners
Menu

Our mission is to fund SURF1 gene therapy research at UT Southwestern Medical Center in Dallas, Texas.  The field of gene therapy has gone through remarkable breakthroughs these last few years and offers incredible promise for genetic diseases such as SURF1 Leigh syndrome.

501(c)3:EIN: 82-4665767 

646-483-7073

  • Facebook - Grey Circle
  • Twitter
  • Instagram

© 2018 by Cure Surf1 Foundation