Genetic Defects

Discovery holds potential in destroying drug-resistant bacteria

Through the serendipity of science, researchers at the University of Pittsburgh have discovered a potential treatment for deadly, drug-resistant bacterial infections that uses the same approach that HIV uses to infect cells. ...

Medical research created May 07, 2013 | popularity 5 / 5 (1) | comments 0 | with audio podcast

Geneticists find causes for severe childhood epilepsies

(Medical Xpress)—Using a state-of-the-art DNA sequencing technique, UA researchers have discovered genetic mutations underlying seizure disorders in previously undiagnosed children.

Neuroscience created May 07, 2013 | popularity 5 / 5 (1) | comments 0 | with audio podcast

Researchers study under-recognised and under-treated prothrombotic condition: High platelet reactivity despite treatment

Within the past decade, the variability in pharmacodynamic response and moderate antiplatelet efficacy of clopidogrel has raised major concerns, in particular because it is associated with an increased risk for ischemic events ...

Cardiology created May 06, 2013 | popularity not rated yet | comments 0

Viral Vectors delivery new calcium pumps for ailing hearts

(Medical Xpress)—A fresh round of trials to evaluate gene therapy for the heart is set to begin in a couple of weeks. The British Heart Foundation will be sponsoring the study, which seeks to replace defective ...

Medical research created May 01, 2013 | popularity 4.2 / 5 (5) | comments 0 | with audio podcast report

Study shows potential new way to detect colorectal and other cancers

A unique new study led by University of Kentucky Markey Cancer Center researchers Guo-Min Li and Libya Gu, in collaboration with Dr. Wei Yang at National Institutes of Health, reveals a novel mechanism explaining the previously ...

Cancer created Apr 25, 2013 | popularity not rated yet | comments 0

The gene therapy renaissance: How experimental technique overcame a troubled legacy and is now helping the blind to see

(Medical Xpress)—In 1999, researchers at the University of Pennsylvania injected 19 people with a virus carrying a gene designed to correct a rare metabolic disease. Early results appeared promising: Among ...

Genetics created Apr 19, 2013 | popularity 5 / 5 (2) | comments 0 | with audio podcast

Discovery of genetic defect that triggers epilepsy

Researchers at the University Department of Neurology at the MedUni Vienna have identified a gene behind an epilepsy syndrome, which could also play an important role in other idiopathic (genetically caused) ...

Neuroscience created Apr 17, 2013 | popularity 4 / 5 (1) | comments 1

Three cancer scientists awarded $500K Nmedical prize

Three scientists at universities in Pennsylvania, Illinois and Oregon whose research has helped transform cancer treatment will share one of the richest prizes in medicine and biomedical research.

Cancer created Apr 16, 2013 | popularity 5 / 5 (2) | comments 0

Brain development is guided by 'junk' DNA that isn't really junk

(Medical Xpress)—Specific DNA once dismissed as junk plays an important role in brain development and might be involved in several devastating neurological diseases, UC San Francisco scientists have found.

Genetics created Apr 15, 2013 | popularity 4.9 / 5 (14) | comments 2 | with audio podcast

US state moves forward on strictest abortion laws (Update)

North Dakota moved closer Friday to having the strictest abortion laws in the U.S., with its House of Representatives approving a measure that would outlaw the procedure after 20 weeks of pregnancy based on the disputed premise ...

Health created Apr 12, 2013 | popularity not rated yet | comments 1

Hallmarks of psychiatric illness can reveal themselves remotely

Researchers discovered that healthy people and those with borderline personality disorder displayed different patterns of behavior while playing an online strategy game, so much so that when healthy players ...

Psychology & Psychiatry created Apr 09, 2013 | popularity 4.3 / 5 (7) | comments 0 | with audio podcast

Liver transplantation for patients with genetic liver conditions has high survival rate

Patients faced with the diagnosis of a life-threatening liver disease have to consider the seriousness of having a liver transplant, which can be a definitive cure for many acquired and genetic liver diseases. Among the main ...

Surgery created Apr 05, 2013 | popularity not rated yet | comments 0

TGen professor discusses benefits of whole genome sequencing in study of multiple myeloma

The scientific benefits of whole genome sequencing at the Translational Genomics Research Institute (TGen) will be presented at the 14th International Myeloma Workshop, April 3-7 at the Kyoto International Conference Center.

Cancer created Apr 03, 2013 | popularity not rated yet | comments 0

Rivals prepare for legal battle over abortion bans

Rival legal teams, well-financed and highly motivated, are preparing for court battles over the coming months on laws enacted in Arkansas and North Dakota that would impose the toughest bans on abortion in ...

Health created Mar 31, 2013 | popularity not rated yet | comments 3

New insights into how genes turn on and off

Researchers at UC Davis and the University of British Columbia have shed new light on methylation, a critical process that helps control how genes are expressed. Working with placentas, the team discovered that 37 percent ...

Genetics created Mar 27, 2013 | popularity 5 / 5 (3) | comments 0 | with audio podcast


A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. Most genetic disorders are quite rare and affect one person in every several thousands or millions.

A genetic disorder may or may not be a heritable disorder. Some genetic disorders are passed down from the parents' genes, but others are always or almost always caused by new mutations or changes to the DNA. In other cases, the same disease, such as some forms of cancer, may be caused by an inherited genetic condition in some people, by new mutations in other people, and by non-genetic causes in still other people.

Some types of recessive gene disorders confer an advantage in certain environments when only one copy of the gene is present.

This text uses material from Wikipedia and is available under the GNU Free Documentation License.

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Computational tool translates complex data into simplified 2-dimensional images

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Ketamine shows significant therapeutic benefit in people with treatment-resistant depression

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Consuming coffee linked to lower risk of detrimental liver disease, study finds

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Returning genetic incidental findings without patient consent violates basic rights, experts say

Informed consent is the backbone of patient care. Genetic testing has long required patient consent and patients have had a "right not to know" the results. However, as 21st century medicine now begins to use the tools of ...

Vicious cycle: Obesity sustained by changes in brain biochemistry

With obesity reaching epidemic levels in some parts of the world, scientists have only begun to understand why it is such a persistent condition. A study in the Journal of Biological Chemistry adds substantially to the st ...

White matter imaging provides insight into human and chimpanzee aging

(Medical Xpress)—The instability of "white matter" in humans may contribute to greater cognitive decline during the aging of humans compared with chimpanzees, scientists from Yerkes National Primate Research ...