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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 was 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 …
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 …
News Release
NIH researchers have successfully identified differences in gene activity in the brains of people with attention deficit hyperactivity disorder (ADHD). The study, led by scientists at the National Human Genome Research Institute (NHGRI), found that individuals diagnosed with ADHD had differences in genes that code for known chemicals that brain cells use to communicate.
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 …