what is surf1?
The human genome consists of roughly 20,000 separate genes, which combine to create the blueprint that distinguishes each individual. Each gene contains instructions that define who you are - everything from your height and eye color to your ability to build bones, control digestion, and keep your heart beating.
SURF1 is the name of a critical gene that takes part in oxidative phosphorylation, which is the process that converts the food we eat into energy. This activity takes place in the mitochondria, which serve as the power plant in each of our body’s cells. A defect in the SURF1 gene prevents mitochondria from producing enough energy for cells in the body to function normally, leading to a rare and progressive genetic disease called Leigh syndrome.
Leigh syndrome is a severe neurodegenerative disease which typically presents itself during infancy or early childhood and offers a particularly grim prognosis.
The condition is characterized by a progressive loss of mental and movement abilities (psychomotor regression) which eventually leads to vision, renal, cardiac and respiratory complications, typically resulting in death in a few years.
A Rare Disease
LS by definition is considered a rare disease, estimated to affect about 1 in 35,000 - 40,000 births for nuclear DNA, while mitochondrial DNA associated LS is rarer, affecting about 1 in 100,000 - 140,000 births.
A disease or disorder is rare, when it affects fewer than 200,000 Americans at any given time. There are about 7,000 rare diseases & disorders, that combined affect 30 million Americans - 1 in 10 of us, and more than half are children. People with rare diseases have tremendous unmet needs - including misdiagnosis, incorrect disease management and inadequate medical support, with the most important being a lack of cure - over 95% of rare diseases have no cure presently.
FOR A CURE
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 a 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.
Gene therapy is a revolutionary approach to treating genetic diseases, where a one-time treatment can provide a lifetime of benefits. Instead of treating just the symptoms, gene therapy fixes the disease at the source by replacing the defective gene with a healthy copy.
A healthy copy of the patient's defective gene is loaded into a virus that has been stripped of its own DNA.
Trillions of viruses, each containing a healthy copy of the gene, are injected into the patient's spinal fluid.
The viruses bind to cells in the patient's spinal cord and brain and deliver healthy gene's to the cell's nucleus.
how it works
In the case that a gene changes—also known as mutating—in a way that causes Leigh syndrome, gene therapy may be able to help. Gene therapy is the introduction, removal or change in genetic material—specifically DNA or RNA—into the cells of a patient to treat a specific disease. The transferred genetic material changes how a protein—or group of proteins—is produced by the cell.
The Research Team
We are collaborating with top researchers at UT Southwestern Medical Center in Dallas, TX to develop an AAV9 based gene therapy for the treatment of SURF1 Leigh syndrome. We believe that gene therapy offers enormous potential, and we are fortunate to partner with a team who have years of experience and are at the forefront of this field.
Dr. Berge Menassian
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.
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.
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.
help us fund A Cure today
Our Foundation’s effort to find a cure for SURF1 Leigh syndrome is accomplished by funding the efforts of doctors and researchers who share our passion and relentless drive to fight this devastating disease. 100% of your donations are tax deductible and will go directly to research dedicated to SURF1 Leigh syndrome. The Cure Surf1 Foundation is a 501(c)(3) nonprofit organization. We thank you for your support!