News tagged with genetic defect
Mystery solved: Tiny protein-activator responsible for brain cell damage in Huntington disease
Johns Hopkins brain scientists have figured out why a faulty protein accumulates in cells everywhere in the bodies of people with Huntington's disease (HD), but only kills cells in the part of the brain that controls movement, ...
Medicine & Health / Medical research
Jun 04, 2009 |
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All genes in one go
The majority of rare diseases are hereditary. But despite significant progress in genome research, in most cases their exact cause remains unclear. The discovery of the underlying genetic defect is, however, ...
Aug 29, 2010 |
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Scientists design new delivery device for gene therapy
Scientists have designed a nanoparticle that appears to effectively deliver genetic material into cells with minimal toxic effects.
Jul 06, 2010 |
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Researchers Present New Sex Evolution Theory
(PhysOrg.com) -- Harris Bernstein and Carol Bernstein have proposed a new theory on the billion-year-old mystery of sexual reproduction evolution.
Jul 08, 2010 |
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A new approach to medicine
(PhysOrg.com) -- University of Connecticut researchers are exploring how to take a patient's own cells, re-engineer them, and replace them in the body.
Medicine & Health / Medical research
Sep 24, 2010 |
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Brain disorder suggests common mechanism may underlie many neurodegenerative diseases
A Mayo Clinic-led international consortium has found a mechanism that may help explain Parkinson's and other neurological disorders.
Medicine & Health / Medical research
Jan 11, 2009 |
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Miracle Aussie baby beats rare condition in world first
A "miracle" Australian baby has become the first person cured of a rare and deadly brain-melting condition after doctors gambled on an experimental drug tested only on mice, they said Thursday.
Medicine & Health / Medications
Nov 05, 2009 |
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New clue why autistic people don't want hugs
Why do people with fragile X syndrome, a genetic defect that is the best-known cause of autism and inherited mental retardation, recoil from hugs and physical touch - even from their parents?
Medicine & Health / Neuroscience
Feb 11, 2010 |
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Researchers report progress using iPS cells to reverse blindness
Researchers have used cutting-edge stem cell technology to correct a genetic defect present in a rare blinding disorder, another step on a promising path that may one day lead to therapies to reverse blindness ...
Jun 15, 2011 |
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Genome editing, a next step in genetic therapy, corrects hemophilia in animals
Using an innovative gene therapy technique called genome editing that hones in on the precise location of mutated DNA, scientists have treated the blood clotting disorder hemophilia in mice. This is the first time that genome ...
Jun 26, 2011 |
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Blood test predicts chance of dementia
VIB (the Flanders Institute for Biotechnology, Belgium) researchers connected to the Born-Bunge Institute and the University of Antwerp discovered the amount of growth factor progranulin in blood is a predictor of Frontotemporal ...
Medicine & Health / Diseases, Conditions, Syndromes
Mar 06, 2009 |
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Unlikely genetic suspect implicated in common brain defect
A genetic search that wound its way from patients to mouse models and back to patients has uncovered an unlikely gene critically involved in a common birth defect which causes mental retardation, motor delays ...
Aug 09, 2009 |
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Cause of skin cancer that heals itself found
(PhysOrg.com) -- An international team of scientists has identified the key gene causing a rare type of skin cancer that grows rapidly for a few weeks or months but then heals itself.
Mar 01, 2011 |
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Study shows patient's own cells may hold therapeutic promise after reprogramming, gene correction
Scientists from the Morgridge Institute for Research, the University of Wisconsin-Madison, the University of California and the WiCell Research Institute moved gene therapy one step closer to clinical reality by determining ...
Apr 04, 2011 |
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Sperm donor passed on sudden death heart defect
(AP) -- A sperm donor passed on a potentially deadly genetic heart condition to nine of his 24 children, including one who died at age 2 from heart failure, according to a medical journal report.
Medicine & Health / Medical research
Oct 20, 2009 |
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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.
