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TCGA researchers have found that chromophobe renal cell carcinoma stems partly from gene alterations in the mitochondria, the cell's energy supplier.
… cancer, and shed light on the role of mitochondria and metabolic pathways in cancer. The results also support the growing … Content … Rare kidney tumor provides insights on role of metabolic changes in cancer … TCGA researchers have found …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… the genetic causes of the various types of these inherited metabolic disorders and the medical complications associated … and low muscle tone, kidney problems, poor vision, and metabolic instability causing them to become seriously ill, … to learn more about the genetic causes of these inherited metabolic disorders and the medical complications associated …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… in several respects. It exposes trainees to rare metabolic disorders that might not be seen in a more typical … skills in the care and clinical research of patients with metabolic disorders. The residency program includes many … sessions, courses, seminars, biochemical journal club and metabolic continuity clinic. The course Inborn Errors in …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… Carlos Ferreira, M.D. , a staff clinician in the Metabolic Medicine Branch at the National Human Genome … disorders, we hope to better understand molecules and pathways that influence skeletal growth and metabolism in … bones … Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare …
Staff
Lindsey Criswell, who became the director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases in February, 2021 is also an associate investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… 2021 is also an associate investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics … major histocompatibility complex (MHC), biological pathways, genetic ancestry, epigenetic factors … Lindsey … 2021 is also an associate investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics …
News Release
Genomic analyses turned up genes that belong to inflammatory pathways.
… analyses of the disease we focus on belong to inflammatory pathways, like Rohith's, that have been targeted by big … analyses turned up genes that belong to inflammatory pathways. … multi-focal osteomyelitis, CRMO, NIH Clinical … analyses turned up genes that belong to inflammatory pathways. … News Release …
News Release
TCF1 (for T cell factor-1) is essential for the creation and persistence of disease-fighting antibodies in the bloodstream.
… declare that their findings "may help shed light on pathways important for the development of vaccines and immune …
News Release
NIH awards more than $64 million to for a database of human cellular responses called the Library of Integrated Network-based Cellular Signatures or LINCS.
… responses will improve scientists' understanding of cell pathways and aid in the development of new therapies for many … … NIH awards aim to improve understanding of cell pathways, development of new therapies … NIH awards more than …