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 ...

Medicine & Health / Genetics

created Feb 06, 2012 | popularity 5 / 5 (2) | comments 0 | with audio podcast

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

created Jan 31, 2012 | popularity 5 / 5 (1) | comments 0

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 ...

Medicine & Health / Genetics

created Jan 08, 2012 | popularity 4.5 / 5 (2) | comments 0 | with audio podcast

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

created Dec 28, 2011 | popularity 4.9 / 5 (11) | comments 3 | with audio podcast

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.

Medicine & Health / Research

created Dec 14, 2011 | popularity 4.5 / 5 (2) | comments 0 | with audio podcast

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 ...

Medicine & Health / Cancer

created Dec 12, 2011 | popularity not rated yet | comments 0

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.

Medicine & Health / Genetics

created Dec 12, 2011 | popularity not rated yet | comments 0 | with audio podcast

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.

Biology / Plants & Animals

created Dec 07, 2011 | popularity 5 / 5 (3) | comments 0

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 ...

Medicine & Health / Genetics

created Nov 17, 2011 | popularity not rated yet | comments 0 | with audio podcast

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 ...

Medicine & Health / Genetics

created Nov 04, 2011 | popularity not rated yet | comments 0 | with audio podcast

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. ...

Medicine & Health / Research

created Oct 27, 2011 | popularity not rated yet | comments 0

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 ...

Medicine & Health / Research

created Oct 25, 2011 | popularity 5 / 5 (1) | comments 0

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 ...

Medicine & Health / Genetics

created Oct 24, 2011 | popularity not rated yet | comments 0

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

created Oct 18, 2011 | popularity 5 / 5 (1) | comments 0

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 ...

Medicine & Health / Genetics

created Oct 06, 2011 | popularity not rated yet | comments 0 | with audio podcast

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.