Support Lifesaving Research – Make a Corporate Donation
Together for every child’s right to a future
Your company, organization, or association can make a vital contribution to our lifesaving gene therapy program for the approximately 10 children born each year with the rare and life-threatening disease Friedreich’s ataxia (FA). Your support truly makes a difference – bringing us closer to the goal of giving every child what they deserve: a future.
At the forefront of this groundbreaking work are Dr. Steven Gray, a pioneer in AAV-based gene therapy, and Dr. Ryan Butler, an expert in neurogenetic disorders. We also work with Dr. Marek and Dr. Jill Napierala, two of the world’s leading FA researchers, whose work has been instrumental in understanding the disease’s mechanisms and advancing the research.
Together with these leading experts, we are developing a treatment capable of reaching more cells than prior “gold standard” gene therapy approaches such as with AAV9 or AAVrh10.
We are committed to bringing this therapy all the way to FDA/EMA approval—for our children and for everyone living with FA.
We are doing this to safe lives – Period.
Follow our journey.
Our Team - UT Southwestern Medical Center
Dr. Ryan Butler
- Assistant Professor, UTSW
- Specialist in gene therapy for neurological conditions
- Research Interest:
– Evolution of molecular components of the nervous system
– Gene therapy for genetic disorders
– How pain alters cognitive function and leads to co-morbid addiction
– How pain is altered by cognitive state
Ryan completed his Ph.D. at the National University of Ireland, Galway. In 2018, he joined the Psychiatry and Pediatric departments at UT Southwestern Medical Center to work towards developing genetic therapies for a number of neurological and psychiatric conditions.
Dr. Steven Gray – AAV Gene Therapy Pioneer
Helen J and Robert S Strauss Distinguished
Professor in Pediatric Neurology
University of Texas Southwestern Medical Center
Professor at UTSW
Ph.D. in Molecular Biology, Vanderbilt University
Expert in AAV gene therapy for CNS diseases
Dr. Steven Gray received a B.S. degree with honors from Auburn University followed by a Ph.D. in molecular biology from Vanderbilt University and postdoctoral training at the UNC Chapel Hill Gene Therapy Center. He is currently a Professor in the Department of Pediatrics at the University of Texas Southwestern Medical Center. Dr. Gray is the co-director of the UTSW Gene Therapy Program and director of the UTSW Viral Vector Facility. He maintains affiliations with the Department of Molecular Biology, the Department of Neurology, and the Eugene McDermott Center for Human Growth and Development at UT Southwestern.
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 have resulted in approved and ongoing human clinical trials to test gene therapies for the following disorders: Rett Syndrome, Giant Axonal Neuropathy (GAN), Tay-Sachs, Sandhoff, Spastic Paraplegia Type 50, Charcot Marie Tooth disease type 4J, and Batten Diseases (CLN1, CLN5, and CLN7).
Dr. Gray has published over 100 peer-reviewed papers in journals such as New England Journal of Medicine, Molecular Therapy, Brain, Journal of Clinical Investigations, Nature Biotechnology, Nature Medicine, and The Proceedings of the National Academy of Sciences. He also has over 25 pending or awarded patents. His research is funded by the National Institute for Neurological Disorders and Stroke, as well as numerous large and small research foundations and industry partners. Dr. Gray was recognized with the American Society of Gene and Cell Therapy’s Outstanding Young Investigator Award in 2019, 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. 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), Multiple Sulfatase Deficiency, SURF1-related Leigh Syndrome, SLC6A1, Tay-Sachs, Sandhoff, Krabbe, AGU, Charcot-Marie Tooth, Batten Diseases, GNAO1 Deficiency, DDX3X Deficiency, Monoamine Oxidase Deficiency, and Angelman Syndrome, 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 9 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. Ryan Butler
- Assistant Professor, UTSW
- Specialist in gene therapy for neurological conditions
- Research Interest:
– Evolution of molecular components of the nervous system
– Gene therapy for genetic disorders
– How pain alters cognitive function and leads to co-morbid addiction
– How pain is altered by cognitive state
Ryan completed his Ph.D. at the National University of Ireland, Galway. In 2018, he joined the Psychiatry and Pediatric departments at UT Southwestern Medical Center to work towards developing genetic therapies for a number of neurological and psychiatric conditions.
Dr. Marek Napierala
- Professor, UTSW
- 25+ years of experience in molecular FA research
Research: Dr. Napierala has more than 25 years of experience studying molecular mechanisms associated with human diseases caused by the expansion of repeat sequences. Work in his group is focused predominantly on pathogenic GAA repeat sequences expanded in Friedreich’s ataxia (FRDA).
His laboratory is interested in basic questions related to molecular mechanisms of FRDA as well as in the development of therapeutic strategies for this disease with a long-term research goal of uncovering pathways that are involved in the pathogenesis of FRDA. The Napierala lab utilizes both cellular (induced pluripotent stem cell-derived) and mouse models of this disease.
Background: Dr. Marek Napierala obtained his Ph.D. degree in 1999 from the Institute of Bioorganic Chemistry, Polish Academy of Sciences in Poznan, Poland. His dissertation was focused on RNA structure of trinucleotide repeat sequences mutated in repeat expansion diseases. He continued his interest in repeat sequences during postdoctoral studies at the Center for Genome Research, Institute of Biosciences and Technology at Texas A&M University in Houston, Texas and subsequently as a research faculty member of the Department of Biochemistry at University of Texas MD Anderson Cancer Center. In 2013 he joined the full-time faculty at the Department of Biochemistry and Molecular Genetics, University of Alabama at Birmingham. In 2017 he was promoted to the rank of associate professor. Dr. Napierala moved his research program to University of Texas Southwestern Medical Center in Dallas in 2022. He is a faculty member of the Department of Neurology and Peter O’Donnell Junior Brain Institute.
Education:
M.S. in Biotechnology; Adam Mickiewicz University, Poznan, Poland
Ph.D. in Biochemistry, Institute of Bioorganic Chemistry Polish Academy of Sciences, Poznan, Poland
Dr. Jill S. Napierala
- Assistant Professor, UTSW
- Researcher in FA gene expression and therapeutic strategies
- Assistant Professor
Dr Jill research efforts are devoted to defining molecular mechanisms underlying the most commonly inherited ataxia in humans, Friedreich’s ataxia (FRDA).
FRDA is a severe and progressive neurodegenerative disease that is caused by reduced expression of the Frataxin (FXN) gene. The majority of FRDA patients carry homozygous GAA repeat expansions in intron 1 of the FXN gene, while a fraction of patients are compound heterozygotes, carrying an expanded GAA repeat sequence in one allele and a missense or nonsense mutation in the other. The most common result of both types of lesions is lower levels of Frataxin, a mitochondrial protein involved in iron sulfur cluster synthesis. FRDA affects multiple organ systems and currently there is no cure for this disease nor are there approved drugs to treat the symptoms or prolong longevity for FRDA patients. Dr Jills research areas include: specifying gene expression patterns unique to FRDA in order to identify novel therapeutic targets and disease biomarkers; modulating the expression and activity of mitochondrial aldehyde dehydrogenases to inhibit neurodegeneration in FRDA cell line and animal models; and defining pathogenic mechanisms of Frataxin missense mutations in FRDA.