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News Release
A new study examines why some people grow out of childhood attention deficit hyperactivity disorder (ADHD), while others continue to have symptoms as adults.
News Release
NHGRI researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
… Diseases Network , had unusual and unclassified disorders. “Our objective was to see if any of the 2,560 … mutations in the UBA1 gene. … VEXAS syndrome, inflammatory disorders, ubiquitylation, Undiagnosed Disease Program, David …
Staff
Dr. James Inglese is an adjunct investigator in NHGRI's Metabolic Medicine Branch.
… … Dr. James Inglese is an adjunct investigator in NHGRI's Metabolic Medicine Branch. … James Inglese, high-throughput … … Dr. James Inglese is an adjunct investigator in NHGRI's Metabolic Medicine Branch. … Staff …
Staff
Dr. Galarreta is a board-certified pediatrician and biochemical geneticist in NHGRI's Metabolic Medicine Branch.
… Charles Venditti’s Organic Acid Research Section in the Metabolic Medicine Branch at NHGRI. … Dr. Galarreta’s … pediatrician and biochemical geneticist in NHGRI's Metabolic Medicine Branch. … Dr. Galarreta is a … pediatrician and biochemical geneticist in NHGRI's Metabolic Medicine Branch. … Staff …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… broadened the traits and symptoms associated with known disorders, and offered insights into newly described disorders. The study was published in the American Journal of … a person with a genomic variant associated with a known metabolic disorder. Further testing found that the individual …
Staff
Dr. Ferreira is a staff clinician in the Medical Genomics and Metabolic Genetics Branch and the head of the Skeletal Genomics Unit.
… Lausanne, Switzerland, and in the Society for Inherited Metabolic Disorders North American Metabolic Academy (SIMD NAMA). He also teaches the MEDI 507 …
News Release
Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis.
… to talk.” Scientists have described more than 7,000 rare disorders, the vast majority of which are thought to be … 30 million people in the United States; collectively, rare disorders are not so rare. Often, these disorders can cause very severe medical challenges. Fewer …
Staff
Dr. Gordon-Lipkin is a researcher and child neurologist with expertise in neurodevelopmental disabilities in the Metabolism, Infection and Immunity (MINI) Section.
… she acquired expertise in neurogenetic and neuroimmune disorders. In 2018, she joined the MINI Section at NHGRI as a … on mitochondrial, neuroinfectious and neuroinflammatory disorders in children. … Dr. Gordon-Lipkin’s longstanding … S, Soares BP, Levey E, Fatemi A. ST3GAL5-related disorders: A deficiency in ganglioside metabolism and a …
Staff
Dr. Manoli is a pediatrician, clinical and biochemical geneticist in the Organic Acid Research Section of the Metabolic Medicine Branch at NHGRI.
… geneticist in the Organic Acid Research Section of the Metabolic Medicine Branch at NHGRI. She earned her medical … pathophysiology and develop new therapies for genetic and metabolic disorders. During her training as a clinical and biochemical …
Clinical Research
The Metabolism, Infection and Immunity (MINI) Section aims to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease.
… disease. Mitochondrial diseases are a group of disorders caused by problems with the cell’s ability to …