News tagged with genetic defect

Signs of motor disorders can appear years before disease manifestation

It is known that signs of neurological disorders such as Alzheimer's and Huntington's disease can appear years before the disease becomes manifest; these signs take the form of subtle changes in the brain and behavior of ...

Neuroscience created May 22, 2013 | popularity not rated yet | comments 0

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

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

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

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

Scientists discover gene mutation that causes children to be born without spleen

The spleen is rarely noticed, until it is missing. In children born without this organ, that doesn't happen until they become sick with life-threatening bacterial infections. An international team of researchers led by scientists ...

Genetics created Apr 11, 2013 | popularity 5 / 5 (1) | comments 0 | with audio podcast

Researchers identify mutation that causes short-sightedness and hearing loss

(Medical Xpress)—Researchers have identified a new disorder caused by a genetic mutation that leads to short sightedness and deafness. They say the new link between the two sensory problems could lead to ...

Genetics created Apr 08, 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

Researchers discover that errors in RNA splicing lead to a class of neurological disorders 

(Medical Xpress)—Researchers have found that missteps in a basic cellular process, RNA splicing, is the culprit behind a class of rare neurological disorders manifested by intellectual disability and stunted development.

Genetics created Mar 29, 2013 | popularity 4.5 / 5 (2) | comments 0 | with audio podcast

Governor approves strictest abortion ban in US (Update)

(AP)—A Republican governor signed legislation Tuesday on the strictest abortion law in the country, banning the procedure if a fetal heartbeat can be detected—which can happen as early as six weeks into a pregnancy.

Health created Mar 26, 2013 | popularity not rated yet | comments 0

North Dakota lawmakers move to ban abortion

(AP)—North Dakota lawmakers moved Friday to outlaw abortion in the state by passing a bill defining life as starting at conception.

Health created Mar 22, 2013 | popularity not rated yet | comments 0

Learning from Lassa virus: Researchers discover gene mutations that can result in a congenital disorder

(Medical Xpress)—Researchers have known that two seemingly distant human maladies—a devastating set of hereditary disorders called Walker-Warburg syndrome and infection with the virus that causes hemorrhagic ...

Medical research created Mar 22, 2013 | popularity not rated yet | comments 0 | with audio podcast

Discovery could increase efficacy of promising cystic fibrosis drug

(Medical Xpress)—A little more than a year after the FDA approved Kalydeco (Vx-770), the first drug of its kind to treat the underlying cause of cystic fibrosis, University of Missouri researchers believe ...

Medical research created Mar 21, 2013 | popularity 4.5 / 5 (2) | comments 0 | with audio podcast

Folate and vitamin B12 reduce disabling schizophrenia symptoms in some patients

Adding the dietary supplements folate and vitamin B12 to treatment with antipsychotic medication improved a core symptom component of schizophrenia in a study of more than 100 patients. The study focused on negative symptoms ...

Psychology & Psychiatry created Mar 06, 2013 | popularity 5 / 5 (1) | comments 0 | with audio podcast

Reprogrammed immune cells might give doctors an edge in rallying the body's defenses against tumor growth

Genetic abnormalities accrued by tumor cells lead to inappropriate production of proteins at the wrong time or place, or even the synthesis of unusual hybrid proteins not found in normal cells. Such abnormalities ...

Cancer created Mar 01, 2013 | popularity 5 / 5 (2) | comments 0

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.

Related topics: genes , gene therapy