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Profile
Dr. Pavan looks back on his career at NHGRI, highlights pivotal moments and shares his future plans in artistic woodworking and community mediation.
… that focused on understanding genome function and gene pathways in development and disease. As head of the Genomics, … after nearly 30 years of discovering gene functions and pathways … Dr. Pavan looks back on his career at NHGRI, …
News Release
The Genetics and Public Policy and Genetics and Education Fellowships provide a pathway for scientists to pursue careers in science policy or education.
News Release
Researchers from The Cancer Genome Atlas Research Network identify novel mutations in a well-known cancer-causing pathway in lung adenocarcinoma.
… have a comprehensive understanding of many of the genetic pathways that lead to cancers of the lung," said NCI Director …
Research at NHGRI
The Center for Precision Health Research, formerly Medical Genomics and Metabolic Genetics Branch, studies how health and disease are related to genetic, genomic and metabolic variation.
… Health Research (CPHR) (formerly the Medical Genomics and Metabolic Genetics Branch) was established in 2021 as a … in which investigators use genetic variation to identify pathways that can be targets for common diseases, such as … Health Research, formerly the Medical Genomics and Metabolic Genetics Branch, studies how health and disease are …
Media Availability
New research provides a better understanding of some of the genetic and cellular changes in pathways and processes involved in Autism Spectrum Disorder.
… of some of the genetic and cellular changes in pathways and processes thought to be involved in ASD, and … identified variations and mutations in genes in three pathways that are important to normal development. In each case, the changes in these pathways were linked to autism risk. They include: Synaptic …
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
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 …
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
… Trimethylaminuria is a metabolic condition in which an individual is not able to … … About Trimethylaminuria … Trimethylaminuria is a metabolic condition in which an individual is not able to … Treating A Genetic Disease … Trimethylaminuria is a metabolic condition in which an individual is not able to …
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 … development of animal and cell models to understand the pathways and molecular mechanisms responsible for the …