Genetic disorder
Disease
Virus hit 'hard and fast:' Dead girl's parents...that it can hit so hard and fast," Leanne said. Sarah had Angelman syndrome, a genetic disorder causing mental and physical disabilities and often misdiagnosed as cerebral palsy or autism. She suffered from seizures, eating and sleep... In this article: H1N1, Seizure, Phobia, Cerebral palsy, Autism, Angelman syndrome, and Genetic disorder |
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Medical News Today | December 18, 2008
New System Of Scoring IQ Tests Benefits Children With Intellectual Disabilities
...Institute. Now, Hessl and a team of collaborators have devised a new system of scoring IQ tests taken by children with fragile X syndrome, a genetic disorder that causes intellectual disabilities including autism. Their research has...
In this article: Autism, M.I.N.D. Institute, Neurodevelopmental disorders, Meningitis, Royal Society, University of California Davis, and Stanford University
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PR Newswire: Health / Biotech | October 05, 2009
New Government Research Finds One in Every 100 Children Has Autism, of Whom Nearly 40% Are Recovered
According to Dr. Stephen M. Edelson, Executive Director of ARI, new research challenges the long-held view that autism is an incurable genetic disorder: "What we are discovering is that those with autism often have underlying medical...
In this article: Autism, Autism Research Institute, Dallas, Asperger's Disorder, and Fairmont Hotel
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Wikipedia | October 19, 2009
Dan Olmsted
...the apparent global epidemic of autism in a series of columns titled The Age of Autism. Though most mainstream experts think autism is a genetic disorder and that reported increases are due to changes in diagnostic practices, Olmsted thinks...
In this article: Dan Olmsted, Autism, United Press International, Carolyn Maloney, Washington D.C., Scientific studies, Washington Times, Thiomersal, Columbia Journalism Review, and National Press Club
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ScienceDaily: Latest Science News | September 25, 2008
Rare Genetic Disorder Gives Clues To Autism, Epilepsy, Mental Retardation
...more Mouse Model Mimics Natural Development Of Epilepsy (July 19, 2002) Researchers at Washington University School of Medicine in St. Louis have developed a mouse model of the genetic disorder tuberous sclerosis complex (TSC). The mice...
In this article: Autism, Mental retardation, Epilepsy, Tuberous sclerosis, and University of California, San Diego
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Developmental disability
...disabilities (P.L. 106-402). Frequently, people with mental retardation, cerebral palsy, autism spectrum disorder, various genetic and chromosomal disorders such as Down syndrome and Fragile X syndrome, and Fetal Alcohol Spectrum Disorder...
In this article: Self-determination, Epilepsy, United States, Mental retardation, Down syndrome, Europe, Pennsylvania, and Cattle
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The Australian | October 19, 2009
Congratulations! It's Fragile X!
...Fragile X! Leading international experts are converging on Lower Hutt in early November for a conference on Fragile X Syndrome, a genetic disorder that causes developmental delay, intellectual impairment and numerous challenging behaviours,...
In this article: Fragile X syndrome, Autism, New Zealand, Ministry of Health, Parkinsons, Osteoporosis, Tremor, and Air New Zealand
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U.S. News & World Report | April 02, 2009
4 Promising Autism Treatments, From Vitamin B12 to Alzheimer's Drug Namenda
...behavior and language. " Dawson gives the example of fenobam, a drug in phase-1 clinical trials for a genetic disorder called fragile X syndrome; about half of people with that syndrome also develop autism. Fenobam calmed behavior and...
In this article: Autism, Alzheimer's, Namenda, Vitamin B12, Fenobam, MIND Institute, and Anxiety disorder
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Sociability Traced To Particular Region Of Brain By Stanford Scientists
...his lab is doing. However, he said, another genetic disorder, called Fragile X syndrome, stems from a genetic abnormality as distinctive and well-characterized as Williams syndrome but often produces the symptoms of autism. Reiss has applied...
In this article: Williams syndrome, Autism, Happy Faces, National Institute of Child Health and Human Development, and Meningitis
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More on Genetic disorder
Description from Wikipedia:
A genetic disorder is a condition caused by abnormalities in genes or chromosomes. While some diseases, such as cancer, are due to genetic abnormalities acquired in a few cells during life, the term "genetic disease" most commonly refers to diseases present in all cells of the body and present since conception. Some genetic disorders are caused by chromosomal abnormalities due to errors in meiosis, the process which produces reproductive cells such as sperm and eggs. Examples include Down syndrome (extra chromosome 21), Turner Syndrome (45Xo) and Klinefelter's syndrome (a male with 2 X chromosomes). Other genetic changes may occur during the production of germ cells by the parent. One example is the triplet expansion repeat mutations which can cause fragile X syndrome or Huntington's disease. Defective genes may also be inherited intact from the parents. This can often happen unexpectedly when two healthy carriers of a defective recessive gene reproduce, but can also happen when the defective gene is dominant.
Currently about 4,000 genetic disorders are known, with more being discovered. Most disorders are quite rare and affect one person in every several thousands or millions. Cystic fibrosis is one of the most common genetic disorders; around 5% of the population of the United States carry at least one copy of the defective gene. Some types of recessive gene disorder confer an advantage in the heterozygous state in certain environments.
Genetic diseases are typically diagnosed and treated by geneticists. Genetic counselors assist the physicians and directly counsel patients. The study of genetic diseases is a scientific discipline whose theoretical underpinning is based on population genetics.
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