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News Release
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
… clinical profiles of people with RUNX1 familial platelet disorder. … A few years ago, Emily* discovered that she had … family.   However, when one of Emily’s relatives underwent genetic testing for an unrelated condition, they were told … the signs and symptoms. In Canada where Emily lives, genetic testing to diagnose such a condition is not part of …
Educational Resources
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.
Genetic Testing … Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease. … Genetic Variation, Genetic Testing, Genetic Counselor, …
Educational Resources
Genetic discrimination is prejudice directed against people who have or may have a genetic disease.
Genetic Discrimination … Genetic discrimination is prejudice directed against people … their genetic code or genome, such as the risk for genetic disorder. Genetic discrimination can involve such genomic …
News Release
NIH researchers analyzed the gene activities of immune cells in children with mitochondrial disorders and found that their B cells, which produce antibodies to fight viral infections, are less able to survive cellular stress.
… threatening or they can worsen the progression of their disorder,” said Peter McGuire, M.B.B.Ch. , NHGRI … Around 1 in 5,000 people worldwide have a mitochondrial disorder. Examples of mitochondrial disorders are Leigh’s … are less able to survive cellular stress. … mitochondria, genetic condition, immune system, sequencing, children, …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… with MMA and related disorders to learn more about the genetic causes of the various types of these inherited … with MMA and cobalamin disorders to learn more about the genetic causes of these inherited metabolic disorders and the … ​ … Methylmalonic Acidemia, Metabolic Disorders, Genetic Disorder, Inherited Disorder, Family Health History, …
Research Training
Two-year fellowships for M.D.s and Ph.D.s in cytogenetics, biochemical genetics and molecular genetics.
… to oversee and interpret cytogenetic and molecular genetic tests important in the diagnosis and management of human genetic disorders. … To gain the requisite laboratory … Hospital in Washington, DC. Fellows also gain clinical and genetic counseling exposure by seeing patients with genetic
Educational Resources
Genetic epidemiology is a relatively new medical discipline that seeks to understand how genetic factors interact with the environment in the context of disease in populations.
Genetic Epidemiology … Genetic epidemiology is a relatively new medical discipline that seeks to understand how genetic factors interact with the environment in the context of disease in populations. … Genetic Epidemiology, Healthcare, Medicine, Population …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… WAGR syndrome is a rare genetic condition caused by a deletion of a group of genes … cancer, and mental disability. … WAGR syndrome is a rare genetic condition that can affect both boys and girls. Babies … psychiatric disorders including autism, attention deficit disorder, obsessive compulsive disorder, anxiety disorders, …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… Wilson disease is a rare genetic condition that causes a person's body to store too … damage that may cause death. … Wilson disease is a rare genetic condition that affects about one in 30,000 people. … disease. Copper content of the liver is also measured. Genetic testing is frequently used to help diagnose Wilson …
Genetic Disorders
Cystic fibrosis is a genetic disease that causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas.
… Cystic fibrosis (CF) is the most common, fatal genetic disease in the United States. About 30,000 people in … will be adapted to treat other organs affected by CF. Genetic Research May Lead to New Drugs to Treat Cystic … Center and at PathoGenesis Corporation have completed a genetic map for the Pseudomonas aeruginosa bacterium. This …