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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 … Content … Rare kidney tumor provides insights on role of metabolic changes in cancer … TCGA researchers have found … cell carcinoma, ChRCC, The Cancer Genome Atlas, TCGA, metabolic changes in cancer … TCGA researchers have found …
Genetic Disorders
Hemophilia is a bleeding disorder that slows down the blood clotting process.
… the hemophilia. Males are affected by X-linked recessive disorders much more frequently than females. A major … that slows down the blood clotting process. … Genetic Disorders …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… progressive destruction of the nervous system. … Genetic Disorders …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… Sickle cell disease is a group of inherited red blood cell disorders. … Sickle cell disease is the most common inherited … cell disease is a group of inherited red blood cells disorders … Sickle Cell Disease, Inherited Blood Disorders, Gene Mutation, Hemoglobin-beta, Chromosome 11, Red …
Research Training
Three-year residency program in medical genetics that trains physicians to diagnose, manage and counsel patients with genetic disorders.
… to diagnose, manage and counsel patients with genetic disorders. … The Medical Genetics Residency Program exposes … gain broad experience in clinical and molecular genetics, metabolic diseases and cytogenetics. M.D. candidates must … Genetic Disorders, Clinical Genetics, Molecular Genetics, Metabolic Diseases, Cytogenetics … Three-year residency …
News Release
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… screening to all 24 human chromosomes can detect genetic disorders that may explain miscarriage and abnormalities … sequencing all 24 chromosomes to uncover other, rare disorders in pregnancy. Image Credit: Getty Images.  The … … Sequencing all 24 human chromosomes uncovers rare disorders … Extending noninvasive prenatal screening to all …
Research at NHGRI
CRGGH uses genomic tools to understand the pathobiology of metabolic disorders, including obesity, hypertension, diabetes, dyslipidemia, and kidney disease.
… uses genomic tools to understand the pathobiology of metabolic disorders, including obesity, hypertension, diabetes, … CRGGH uses genomic tools to understand the pathobiology of metabolic disorders, including obesity, hypertension, …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… Urology Cure Foundation National Organization for Rare Disorders Genetic and Rare Disease Information Center Finding … by the growth of numerous cysts in both kidneys. … Genetic Disorders …
Genetic Disorders
Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness.
… Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and … … Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and … Atrophy … Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and …