Recent INFORM Advances and Accomplishments Congratulations, Dr. Jerry Vockley! Jerry Vockley, MD, PhD, a distinguished faculty member of the University of Pittsburgh School of Medicine, has been elected to the prestigious Association of American Physicians (AAP). Dr. Vockley, the Cleveland Family Professor of Pediatric Research [...]
Recent INFORM Advances and Accomplishments Dr Jerry Vockley, Director of the Center for Rare Disease Therapy and Chief of the Division of Genetic and Genomic Medicine at CHP, has been awarded a prestigious Rare Impact Award. Given to a select few individuals each year by the National Organization for Rare [...]
Vockley, et al., Published In JCI Insight Pitt Pediatrics congratulates Jerry Vockley, MD, PhD, FACMG, and his research team for their recent publication in the September issue of JCI Insight. Titled “Mitochondrial bioenergetics and cardiolipin remodeling abnormalities in mitochondrial trifunctional protein deficiency,” this research focuses on the exploration of mutations in mitochondrial [...]
Vockley Appointed To FDA Advisory Council Pitt Pediatrics congratulates Jerry Vockley, MD, PhD, FACMG for recently being asked to join the FDA’s Genetic Metabolic Disease Advisory Committee. This panel is comprised of a small number of voting positions that approve new drug applications within this specific scientific study. The decisions made [...]
Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy Abstract Long chain 3-hydroxyacyl-CoA dehydrogenase (LCHADD) is the only fatty acid oxidation disorder to develop a progressive chorioretinopathy resulting in vision loss; newborn screening (NBS) for [...]
INFORM 2023 Bringing the Latest in Fatty Acid Oxidation Disorders Research to Israel 10th gathering of the International Network for Fatty Acid Oxidation Research and Management, INFORM to showcase global advancements. Global experts, practitioners and researchers in fatty acid oxidation disorders convened in Jerusalem, Israel, August 27th and 28th [...]
Hypoketotic Hypoglycemia Explained in Simple Terms Hypoketotic hypoglycemia is a medical condition characterized by low blood sugar levels, with a focus on fatty acid oxidation disorders. It occurs when the body is unable to efficiently break down fats as an energy source, leading to a buildup of toxic by-products and [...]
Ultragenyx Announces U.S. FDA Approval of Dojolvi™ (UX007/triheptanoin), the First FDA-Approved Therapy for the Treatment of Long-chain Fatty Acid Oxidation Disorders Fourth U.S. FDA Approval for Ultragenyx in the Past Three Years – All for Rare Diseases which Previously Had No Approved Therapies Ultragenyx to Host Conference Call Today at 4:00 pm [...]
INFORM Conference Explores Future of Disorders of Fatty Acid Oxidation International Network for Fatty Acid Oxidation Research and Management showcased advancements, next-gen researchers Global experts, practitioners, researchers and family members gathered this fall for the ninth meeting of the International Network for Fatty Acid Oxidation Research and Management. Held in [...]
How is CPT2 Diagnosed? Most people never think about the adverse impacts of dieting or skipping a meal on a busy day. We assume that this is a normal function of the body that can be handled by the body. Under normal circumstances, this is true as the body can [...]
