News tagged with genetic defect
'ROCK' off: Study establishes molecular link between genetic defect and heart malformation
UNC researchers have discovered how the genetic defect underlying one of the most common congenital heart diseases keeps the critical organ from developing properly. According to the new research, mutations ...
Feb 06, 2012 |
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Drug approved to treat cystic fibrosis' root cause
The first drug that treats the root cause of cystic fibrosis won approval Tuesday, offering a life-changing treatment for a handful of patients with the deadly illness and broader hope for thousands more patients with the ...
Medicine & Health / Medications
Jan 31, 2012 |
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Study finds two genes affect anxiety, behavior in mice with too much MeCP2
The anxiety and behavioral issues associated with excess MeCP2 protein result from overexpression of two genes (Crh [corticotropin-releasing hormone] and Oprm 1 [mu-opioid receptor MOR 1]), which may point the way to treating ...
Jan 08, 2012 |
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Scientists discover a brain cell malfunction in schizophrenia
Scientists at The Scripps Research Institute have discovered that DNA stays too tightly wound in certain brain cells of schizophrenic subjects.
Medicine & Health / Psychology & Psychiatry
Dec 28, 2011 |
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Brain and heart link may explain sudden death in Rett
Poets might scoff at the notion that heart and brain are closely related, but scientists led by those at Baylor College of Medicine (www.bcm.edu) say a genetic defect that affects the brain can stop a heart.
Dec 14, 2011 |
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Childhood cancer survivors' exposure to chemotherapy, radiation does not increase risk of birth defects in their childre
A large, retrospective study shows that children of childhood cancer survivors who received prior treatment involving radiation to testes or ovaries and/or chemotherapy with alkylating agents do not have an increased risk ...
Dec 12, 2011 |
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Babies born with no eyes: Scientists identify genetic cause
Scientists at University College Dublin, Ireland, have identified a genetic alteration which causes a child to be born with no eyes a condition called anophthalmia.
Dec 12, 2011 |
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Research: Bedbugs can thrive despite inbreeding
Bedbugs aren't just sleeping with you. They're sleeping with each other. Researchers now say that the creepy bugs have a special genetic gift: withstanding incest.
Dec 07, 2011 |
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One for you, one for me: Researchers gain new insight into the chromosome separation process
Each time a cell divides -- and it takes millions of cell divisions to create a fully grown human body from a single fertilized cell -- its chromosomes have to be accurately divvied up between both daughter ...
Nov 17, 2011 |
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Biologists use flies, mice to study Down syndrome
A novel study involving fruit flies and mice has allowed biologists to identify two critical genes responsible for congenital heart defects in individuals with Down syndrome, a major cause of infant mortality ...
Nov 04, 2011 |
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Progeria: Promising results from new gene therapy on animals
Researchers are continuing their efforts in an attempt to counter the consequences of the genetic defect that causes Progeria. Until now, no model had been able to accurately imitate the effects of the disease in humans. ...
Oct 27, 2011 |
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Neurbiological mechanism behind anorexia/self starvation found in mouse
Researchers at Karolinska Institutet have found inborn traits in mice, which might explain why some individuals are more prone to develop anorexia/self starvation than others. A study showing that genetic defects in the cells ...
Oct 25, 2011 |
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Gene mutations predict early, severe form of kidney disease
The most common kidney disease passed down through families, autosomal dominant polycystic kidney disease (ADPKD) affects one in 400 to 1,000 individuals and is characterized by cysts on the kidneys. The condition slowly ...
Oct 24, 2011 |
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Adult congenital heart patients with highest surgery costs more likely to die in hospital
Higher surgical costs for adult congenital heart patients is associated with higher rates of inpatient death compared to surgical admissions that incur lower costs, according to a study in Circulation: Quality and Outcomes, a jour ...
Medicine & Health / Cardiology
Oct 18, 2011 |
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Severe hypoglycemia cause identified
Cambridge scientists have identified the cause of a rare, life-threatening form of hypoglycaemia. Their findings, which have the potential to lead to pharmaceutical treatments for the disorder, were published today in the ...
Oct 06, 2011 |
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Genetic disorder
A genetic disorder is an illness caused by abnormalities in genes or chromosomes. While some diseases, such as cancer, are due in part to a genetic disorders, they can also be caused by environmental factors. Most disorders are quite rare and affect one person in every several thousands or millions. Some types of recessive gene disorders confer an advantage in the heterozygous state in certain environments. A haploid cell has only one set of chromosomes. A diploid cell has two sets of chromosomes. In human, the somatic cells are diploid, and the gametes are haploid.
Genetic diseases are typically diagnosed and treated by geneticists. Genetic counselors assist the physicians and directly counsel patients.[citation needed]
For more information about Genetic disorder, read the full article at
Wikipedia.
This text uses material from Wikipedia and is available under the GNU Free Documentation License.