Search Results
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… bodies. Inborn errors of metabolism (IEM) are a group of disorders that causes a block in a metabolic pathway leading to clinically significant … they also have the disorder. We recommend talking to your metabolic specialist and/or genetic counselor to determine …
Research at NHGRI
The Metabolic Medicine Branch houses clinical and laboratory research programs that focus on the development of new therapies for patients with genetic disorders.
… The Metabolic Medicine Branch (MMB) houses clinical and … the development of new therapies for patients with genetic disorders. … The research conducted in the Metabolic Medicine Branch involves interconnected laboratory … conditions, including organic acidemias, mitochondrial disorders and skeletal dysplasias. All investigators direct …
Genetic Disorders
Attention Deficit Hyperactivity Disorder (ADHD) is a neurological disorder that affects a person's ability to control their behavior and pay attention to tasks.
… with ADHD may also have learning disabilities, behavioral disorders or disorders of mood such as depression or anxiety. Problems … Genetic Disorders …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… Genetic Disorders …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… Acidemia study will evaluate patients with MMA and related disorders to learn more about the genetic causes of the various types of these inherited metabolic disorders and the medical complications associated with them. … and low muscle tone, kidney problems, poor vision, and metabolic instability causing them to become seriously ill, …
CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch.
… and Global Health (CRGGH) is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics … CRGGH joins NHGRI's Metabolic, Cardiovascular, and Inflammatory Disease Genomics … CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… increased risk of developing Parkinson disease and related disorders. … Genetic Disorders …
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… The Metabolic, Cardiovascular and Inflammatory Disease Genomics … Metabolic, Cardiovascular and Inflammatory Disease Genomics … The Metabolic, Cardiovascular and Inflammatory Disease Genomics … The Metabolic, Cardiovascular and Inflammatory Disease Genomics …
Talking Glossary
Autosomal recessive is a pattern of inheritance characteristic of some genetic disorders.
… is a pattern of inheritance characteristic of some genetic disorders. … is a pattern of inheritance characteristic of some genetic disorders. “Autosomal” means that the gene in question is … is a pattern of inheritance characteristic of some genetic disorders. …
News Release
NHGRI has selected Charles Venditti, M.D., Ph.D., as chief of its Metabolic Medicine Branch within the Institute’s Intramural Research Program. In this role, he will provide leadership and guidance on research into genetic diseases that disrupt metabolism.
… the development of new therapies for patients with genetic disorders. … selected Charles P. Venditti, M.D., Ph.D., as chief of its Metabolic Medicine Branch within the Institute’s Intramural … (MMA), propionic acidemia (PA), and related metabolic disorders. Dr. Venditti has demonstrated expertise in the …