Genetic Defects
Supercomputers solve riddle of congenital heart defects
About 25,000 Danes currently live with congenital heart defects. Both heredity and environment play a role for these malformations, but exactly how various risk factors influence the development of the heart during pregnancy ...
Cardiology
Aug 13, 2012 |
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Study of zebra fish mouth formation may speak to Fraser syndrome hearing loss
Using mutant zebra fish, researchers studying the earliest formation of cartilage of the mouth believe they may have gotten a look at a mechanism involved in a genetic defect linked to Fraser syndrome deafness in humans.
Genetics
Jul 31, 2012 |
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Gene therapy holds promise for reversing congenital hearing loss
A new gene therapy approach can reverse hearing loss caused by a genetic defect in a mouse model of congenital deafness, according to a preclinical study published by Cell Press in the July 26 issue of the journal Neuron. The fi ...
Neuroscience
Jul 25, 2012 |
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New information about the causes of 'floppy baby' syndrome discovered
(Medical Xpress) -- New information on the potential cause of Spinal Muscular Atrophy (SMA), known as “floppy baby syndrome”, has been discovered by cell biology experts at the University of St Andrews.
Diseases, Conditions, Syndromes
Jun 28, 2012 |
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Biologists take new approach to deciphering the roles of genes associated with autism
Fish cannot display symptoms of autism, schizophrenia or other human brain disorders. However, a team of MIT biologists has shown that zebrafish can be a useful tool for studying the genes that contribute ...
Genetics
Jun 19, 2012 |
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Out of the shadows: Freeing families from mitochondrial inherited disease
(Medical Xpress) -- Mitochondrial inherited diseases (MIDs) can devastate families, but there is hope in the form of new techniques to prevent them passing from mother to child. Anjana Ahuja speaks to the ...
Medical research
Jun 12, 2012 |
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Normal gene hinders breast cancer chemotherapy
Presence of normal p53, a tumor suppressor gene, instead of a mutated version, makes breast cancer chemotherapy with doxorubicin less effective. The preclinical study led by MD Anderson scientists was published today in the ...
Cancer
Jun 11, 2012 |
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Brain cell activity imbalance may account for seizure susceptibility in Angelman syndrome
New research by scientists at the University of North Carolina School of Medicine may have pinpointed an underlying cause of the seizures that affect 90 percent of people with Angelman syndrome (AS), a neurodevelopmental ...
Neuroscience
Jun 06, 2012 |
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Genetic cause for CLOVES syndrome identified
Using advanced technologies for rapidly sequencing and analyzing DNA from clinical and pathologic samples, a multidisciplinary research team consisting of geneticists, pathologists and surgeons at Boston Children's Hospital ...
Genetics
May 31, 2012 |
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Scientists discover gene which causes rare disease in babies
A rare disease which often first presents in newborn babies has been traced to a novel genetic defect, scientists at Queen Mary, University of London have found.
Genetics
May 29, 2012 |
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Evolution's gift may also be at the root of a form of autism
A recently evolved pattern of gene activity in the language and decision-making centers of the human brain is missing in a disorder associated with autism and learning disabilities, a new study by Yale University researchers ...
Genetics
May 10, 2012 |
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Research points to new way of preserving fertility for boys undergoing cancer treatment
(Medical Xpress) -- Treatments for childhood cancers are increasingly successful with cure rates approaching 80%, but success often comes with a downside for the surviving men: the cancer treatments they received ...
Medical research
Mar 26, 2012 |
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Research identifies the beginnings of chronic obstructive pulmonary disease
The third most deadly disease in the U.S., chronic obstructive pulmonary disease (COPD), appears to be partly driven by the action of immune cells circulating in the blood entering into the tissues of the lungs. UC Davis ...
Diseases, Conditions, Syndromes
Mar 21, 2012 |
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Researchers discover molecular basis of autistic symptoms in children with rare bone disorder
Children with multiple hereditary exostoses (MHE), an inherited genetic disease, suffer from multiple growths on their bones that cause pain and disfigurement. But beyond the physical symptoms of this condition, ...
Diseases, Conditions, Syndromes
Mar 12, 2012 |
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Fasudil bypasses genetic cause of spinal birth defect
Scientists from the Ottawa Hospital Research Institute (OHRI) and the University of Ottawa (uOttawa) have discovered that a drug called fasudil can extend the average lifespan of mice with Spinal muscular ...
Diseases, Conditions, Syndromes
Mar 06, 2012 |
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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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Controlling mood through the motions of mitochondria
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Multiple research teams unable to confirm high-profile Alzheimer's study
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Motion quotient: IQ predicted by ability to filter motion (w/ video)
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Researchers find common childhood asthma unconnected to allergens or inflammation
Little is known about why asthma develops, how it constricts the airway or why response to treatments varies between patients. Now, a team of researchers at Weill Cornell Medical College, Columbia University Medical Center ...
Diabetes' genetic underpinnings can vary based on ethnic background, studies say
Ethnic background plays a surprisingly large role in how diabetes develops on a cellular level, according to two new studies led by researchers at the Stanford University School of Medicine.
When oxygen is short, EGFR prevents maturation of cancer-fighting miRNAs
Even while being dragged to its destruction inside a cell, a cancer-promoting growth factor receptor fires away, sending signals that thwart the development of tumor-suppressing microRNAs (miRNAs) before it's dissolved, researchers ...
Study reveals new mechanism for estrogen suppression of liver lipid synthesis
By discovering the new mechanism by which estrogen suppresses lipid synthesis in the liver, UC Irvine endocrinologists have revealed a potential new approach toward treating certain liver diseases.
Ferrets, pigs susceptible to H7N9 avian influenza virus
Chinese and U.S. scientists have used virus isolated from a person who died from H7N9 avian influenza infection to determine whether the virus could infect and be transmitted between ferrets. Ferrets are often used as a mammalian ...
Scientists discover cinnamon compounds' potential ability to prevent Alzheimer's
Cinnamon: Can the red-brown spice with the unmistakable fragrance and variety of uses offer an important benefit? The common baking spice might hold the key to delaying the onset of –– or warding off ...
