Pitt Pediatrics congratulates Oluwaseun Akinyele, PhD, for his recent award from the AFM-Telethon organization, also known as the French Muscular Dystrophy Association. Akinyele has been awarded funding for a two year postdoctoral fellowship within the research lab of Dwi Kemaladewi, PhD. Kemaladewi is a Assistant Professor of Pediatrics in the Division of Genetic and Genomic Medicine. Both Akinyele and Kemaladewi are part of the Department of Pediatrics’ Center for Rare Disease Therapy (CRDT).
Akinyele’s project, “Development of a Gene Therapy Approach in an Inborn Error of Polyamine Metabolism,” is designed to help develop a gene therapy for Snyder-Robinson Syndrome. Snyder-Robinson Syndrome is a genetic disorder that occurs exclusively in males, and is typically associated with intellectual disability, muscle and bone abnormalities, and other developmental issues. Affecting only a few dozen individuals around the world over the past 50 years, treatment is generally limited to anti-seizure medications and calcium supplements, as well as physical or speech therapy, depending on the presentation.
AFM-Telethon is a French organization comprised of activists, patients, and parents of patients “affected by rare, progressive, and significantly disabling genetic diseases, known as genetic neuromuscular disease.” AFM-Telethon has worked diligently to cure diseases long considered incurable, as well as bring rare diseases out of medical and scientific obscurity, of which Snyder-Robinson Syndrome once was, into the public consciousness.
The Center for Rare Disease Therapy (CRDT) at UPMC Children's Hospital of Pittsburgh, under the direction of Jerry Vockley, MD, PhD, FACMG, consists of international experts in a variety of medical disciplines, including genetics, ophthalmology, transplant surgery, gastroenterology, immunology, rheumatology, nephrology, hepatology, BMT, cardiology and neurodevelopment focused on treating children with rare genetic conditions, defined by leading standards of care, pioneering protocols, and individualized services in a world-class environment.
The CRDT team of experts are involved in individual and collaborative research and clinical trials for novel, rare genetic conditions. This research includes innovative treatment options and natural history studies that allow patients and families to contribute to and benefit from cutting-edge developments in the management and treatment of rare diseases.
For more updates on Akinyele’s research, as well as developments from the Center for Rare Disease Therapy, follow Pitt Pediatrics on Twitter and Instagram.