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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 …
Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
… 3500 male births worldwide. Because this is an inherited disorder, risks include a family history of Duchenne muscular … boys are classified as having Becker muscular dystrophy. Genetic testing (looking at the body's genetic instructions) on a blood sample for changes in the …
Educational Resources
Fragile X syndrome is a hereditary disorder affecting mostly males.
… Fragile X Syndrome … Fragile X syndrome is a hereditary disorder affecting mostly males. … Hereditary, X Chromosome, Y Chromosome, Genetic Disorder, Mutation … Fragile X syndrome is a genetic condition that affects a person’s development, in …
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.
… are likely to contribute to the risk for autism spectrum disorder (ASD) - a jump from the nine genes implicated in … in Nature , provide a better understanding of some of the genetic and cellular changes in pathways and processes … research provides a better understanding of some of the genetic and cellular changes in pathways and processes …
Educational Resources
Genetic drift is a mechanism of evolution. It refers to random fluctuations in the frequencies of alleles from generation to generation due to chance events.
Genetic Drift … Genetic drift is a mechanism of evolution. It refers to … from generation to generation due to chance events. … Genetic Drift, Evolution, Population Genetics, Genes … Genetic drift is a mechanism of evolution characterized by …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… findings. When Down syndrome is suspected in a person, a genetic test called a chromosome analysis is performed on a … of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra … live born infants. … Down Syndrome, Chromosome 21, Genetic Disorder, Prenatal Testing, Newborn Testing, Mental …
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… Severe Combined Immunodeficiency is a severe, genetic condition of the immune system. … Severe Combined … white blood cells of two young girls to compensate for the genetic mutation. These pioneering patients are still alive … SCID, commonly called ADA SCID, is a very rare genetic disorder. It is caused by a mutation in the gene that encodes …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… Mitochondrial diseases, metabolic disorders and cardio-genetic diseases Carlos Ferreira, M.D. Skeletal dysplasias, … Melissa Merideth, M.D., MPH Gynecologic aspects of genetic and metabolic diseases Drew Michael, Ph.D. Molecular … Program, Training Programs, Physicians, Metabolic Genetic Disorders, Rare Genetic Disorders, Newborn Screening …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… study shows genotype-first approach uncovers new links to genetic conditions. … National Institutes of Health … to clinical attention,” says Caralynn Wilczewski, Ph.D., a genetic counselor at the National Human Genome Research … clinical findings based on their understanding of the disorder. The phenotype-first approach limits researchers …