Genetic disorder
hideA 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]
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News tagged with genetic disorder
Color blindness cured in monkeys
Sep 16, 2009 |
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(PhysOrg.com) -- Researchers from the University of Washington and the University of Florida used gene therapy to cure two squirrel monkeys of color blindness — the most common genetic disorder in people.
New tool helps researchers identify DNA patterns of cancer, genetic disorders
May 19, 2009 |
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A new tool will help researchers identify the minute changes in DNA patterns that lead to cancer, Huntington's disease and a host of other genetic disorders. The tool was developed at North Carolina State ...
Study reveals intermediary steps of genetic encoding for the first time
Mar 27, 2009 |
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In a new study this week in Nature, researchers at Brandeis University and the MRC Laboratory of Molecular Biology (Cambridge, U.K.) for the first time shed light on a crucial step in the complex process by which human geneti ...
Research sheds light on cause of Down syndrome and other genetic disorders
Jul 20, 2009 |
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Scientists have a better understanding of what causes an abnormal number of chromosomes in offspring, a condition called aneuploidy that encompasses the most common genetic disorders in humans, such as Down syndrome, and ...
Sociability traced to particular region of brain
Jan 27, 2009 |
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People with a genetic condition called Williams syndrome are famously gregarious. Scientists, looking carefully at brain function in individuals with Williams syndrome, think they may know why this is so. The researchers ...
Test of Lincoln DNA sought to prove cancer theory
Apr 18, 2009 |
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(AP) -- John Sotos has a theory about why Abraham Lincoln was so tall, why he appeared to have lumps on his lips and even why he had gastrointestinal problems. The 16th president, he contends, had a rare ...
Bone's material flaws lead to disease: Tiny rifts create fragility of brittle bone disease
Aug 04, 2009 |
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(PhysOrg.com) -- The weak tendons and fragile bones characteristic of osteogenesis imperfecta, or brittle bone disease, stem from a genetic mutation that causes the incorrect substitution of a single amino ...
Finding the ZIP-code for gene therapy: Scientists imitate viruses to deliver therapeutic genes
Aug 31, 2009 |
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A research report featured on the cover of the September 2009 print issue of The FASEB Journal describes how Australian scientists developed a new gene therapy vector that uses the same machinery that viruses use to transp ...
Extremophile Yields a Key Cog in Life's Protein Factory
Sep 10, 2009 |
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(PhysOrg.com) -- Peering at single molecules within an organism that makes its home near thermal vents, Yale University scientists have discovered the structure of a key player in the creation of protein-making ...
Researchers surprised by similar structures in Sanfilippo syndrome and Alzheimer's disease
Medicine & Health / Neuroscience
May 04, 2009 |
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Researchers seeking to understand the causes of a rare genetic lysosomal storage disease, Sanfilippo syndrome type B, were surprised to find protein aggregates, known as neurofibrillary tangles, that are usually ...
Nervous system may be culprit in deadly muscle disease
May 25, 2009 |
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Brain may win out over brawn as the primary cause of breathing problems in children with a severe form of muscular dystrophy known as Pompe disease.
Adults with genetic disorder PKU need to get back to the clinic
Aug 26, 2009 |
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Genetic researchers at Children's Memorial Hospital, Chicago, are aggressively identifying adult patients who suffer from the genetic disorder, Phenylketonuria (PKU), and are presenting those findings at the 11th International ...
For the first time, scientists discover causative gene of a rare disorder by exome sequencing
Nov 17, 2009 |
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(PhysOrg.com) -- UW researchers have successfully used a method called exome sequencing to quickly discover a previously unknown gene responsible for a rare disorder. The finding demonstrates the usefulness ...
Not only the gene itself, its abnormal regulation can also trigger short stature
Aug 25, 2009 |
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A specific gene is particularly frequently involved in the development of short stature. Researchers in Heidelberg have now discovered that sequences of genetic material on the X and Y chromosome that regulate this gene are ...
Researchers discover target that could ease spinal muscular atrophy symptoms
Jan 07, 2009 |
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is no cure for spinal muscular atrophy (SMA), a genetic disorder that causes the weakening of muscles and is the leading genetic cause of infant death, but University of Missouri researchers have discovered a new therapeutic ...
