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Topic: Genetic disorder


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  Genetic Disorders - MSN Encarta
Genetic changes that are not inherited (somatic mutations) may cause or contribute to such disorders as cancer.
A special type of single gene disorder occurs when the mutation lies in one of the genes found in the mitochondria of the cell; these are small bodies which carry their own genetic material within a cell.
Genetic disorders transmitted through the mitochondria thus affect all the children of an affected woman but none of the children of an affected man. An example of this is Leber's hereditary optic neuropathy, a disorder characterized by atrophy of the optic nerve.
uk.encarta.msn.com /encyclopedia_761579600/Genetic_Disorders.html   (568 words)

  
 UTMB - The Women's Health Center at Bay Colony Town Center - Healthcare Library   (Site not responding. Last check: 2007-10-03)
Genetics is the study of how traits — such as blood type — are passed from parent to child through genes and chromosomes.
Genetic disorders may be caused by problems with either genes or chromosomes.
Disorders that are caused by genes on the X chromosome are called X-linked or sex-linked disorders.
www.utmb.edu /whc/healthcare/obstetrics/GeneticDisordersPregnancy.html   (727 words)

  
 Open Directory - Health:Conditions and Diseases:Genetic Disorders
Epidermolysis Bullosa is a genetic disorder characterized by a fragility of the epidermis or skin, causing blistering, scarring, and sometimes death.
An autosomal recessive disorder with an increased incidence in the Jewish population that is invariably fatal at birth due to renal failure and pulmonary hypoplasia.
Usher syndrome is a rare inherited disorder primarily characterized by deafness due to an impaired ability of the auditory nerves to transmit sensory input to the brain (sensorineual hearing loss) accompanied by retinitis pigmentosa, a disorder that causes progressive loss of vision.
dmoz.org /Health/Conditions_and_Diseases/Genetic_Disorders/desc.html   (3542 words)

  
 Genetic Disease - Health and Medical Information produced by doctors - MedicineNet.com
A genetic disease or disorder is any disease that is caused by an abnormality in an individual's genome.
Single-gene disorders are inherited in recognizable patterns: autosomal dominant, autosomal recessive, and X-linked.
Mitochondrial inheritance -- This type of genetic disorder is caused by mutations in the nonchromosomal DNA of mitochondria.
www.medicinenet.com /genetic_disease/article.htm   (810 words)

  
 Genetic Testing
But other genetic tests measure your risk of developing a disease, even if you are healthy now (presymptomatic testing), or whether you and your partner are at risk of having a child with a genetic disorder (carrier screening).
If a genetic disorder for which a test is available has surfaced on either side of the family, or if you and your partner are carriers for the same testable recessive disorder, your health care professional will probably suggest testing, to determine if the fetus has inherited the disease.
This autosomal recessive disorder is diagnosed in childhood.
www.healthywomen.org /healthtopics/genetictesting/q/L2/33/L1/3   (7617 words)

  
 Genetic Disorders: The Links to Diet
Many researchers and support groups state that birth defects and genetic disorders, especially connective tissue disorders such as Marfan syndrome, osteogenesis imperfecta and Ehlers-Danlos syndrome, can't possibly be cured through diet because they are inherited genetic disorders.
At one time many genetic researchers were convinced that spina bifida was entirely a genetic disorder, yet we now know that almost all cases of spina bifida have been shown to be preventable if the mother gets adequate folic acid before and during her pregnancy.
Many other disorders that were once thought to be caused by single genes may actually be the results of a complex set of factors involving both nutrition and genes.
www.ctds.info /genetic_disorders.html   (1968 words)

  
 Hereditary Hemochromatosis Disease Profile
HH is an autosomal recessive disorder caused by mutations in the HFE gene, which regulates the amount of iron absorbed from food.
HH is one of the most common genetic disorders in the United States.
Genetic testing is the only way to determine whether or not someone is a carrier of the disease [1].
www.ornl.gov /sci/techresources/Human_Genome/posters/chromosome/hh.shtml   (1530 words)

  
 Genetic Disorders Information on Healthline
However, if both parents lack the disorder and pass the disorder's gene to a child, then the genetic disorder is said to be recessive.
Disorders that result from both genes and environment are called multi-factorial genetic diseases.
In addition, some genetic disorders occur predominantly in males or females, due to the nature of the sex chromosomes, X and Y. Although many genetic diseases, such as cystic fibrosis and sickle-cell anemia, do not occur often, some more common genetic diseases include hypertension, diabetes, and certain forms of cancer.
www.healthline.com /galecontent/genetic-disorders   (987 words)

  
 Medical Dictionary: Genetic disorder - WrongDiagnosis.com
Genetic disorder (medical condition): Genetic diseases are caused by error in the DNA in sequences called "genes" or sometimes in the much larger groups of genes called chromosomes.
Genetic disorder: a disease or disorder that is inherited genetically
Genetic disorder : note that all genetic disorders are not treed under this term; see RTs for others; in addition, many disorders not treed here or under RTs may have a genetic component.
www.wrongdiagnosis.com /medical/genetic_disorder.htm   (327 words)

  
 Genetic counseling   (Site not responding. Last check: 2007-10-03)
A genetic counselor, with the aid of the patient or family, creates a detailed family pedigree that includes the incidence of disease in first-degree (parents, siblings, and children) and second-degree (aunts, uncles, and grandparents) relatives.
Genetic disorders such as Tay-Sachs disease, sickle-cell anemia, and thalassemia meet these criteria, and screening tests are commonly done to identify carriers of these diseases.
Genetic diagnosis requires that a couple share information about inherited disorders in their background with the genetic counselor, including details of any genetic diseases in either family.
www.healthatoz.com /healthatoz/Atoz/ency/genetic_counseling.jsp   (1907 words)

  
 Genetic testing   (Site not responding. Last check: 2007-10-03)
Genetic tests also determine whether or not couples are at a higher risk than the general population for having a child affected with a genetic disorder.
Genetic disease results from a change, or mutation, in a chromosome or in one or several base pairs on a gene.
Some genetic diseases occur as a result of a larger mutation which can occur when the chromosome itself is either rearranged or altered or when a baby is born with more than the expected number of chromosomes.
www.healthatoz.com /healthatoz/Atoz/ency/genetic_testing.jsp   (5836 words)

  
 Genetic disorder - Wikipedia, the free encyclopedia
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.
Where genetic disorders are the result of a single mutated gene they can be passed on to subsequent generations in the ways outlined in the table below.
For example, achondroplasia is typically considered a dominant disorder, but young goats or children with two genes for achondroplasia have a severe skeletal disorder that achondroplasics could be viewed as carriers of.
en.wikipedia.org /wiki/Genetic_disorder   (1354 words)

  
 Frequently Asked Questions: Cardiovascular Genetics Center
Genetic testing examines a DNA sample – taken from a sample of blood or any body tissue – to test for changes in the genes, called mutations.
Researchers at the Cardiovascular Genetics Center are at the forefront of new discoveries about the molecular mechanisms that underlie genetic cardiovascular disorders – providing clinicians and patients with valuable information that may not be available elsewhere and suggesting new options for treatment.
If a genetic test is available and confirms that you did not inherit the mutation causing the cardiovascular disease in your family, you do not need further evaluation or treatment for this condition and you are not at risk to pass this condition on to your children.
www.brighamandwomens.org /cvcenter/Patient/FAQ/FAQcvgenetics.aspx   (1127 words)

  
 Genetic Disorder
With several cooperative groups presenting on different disorders, the whole class will be able to see the different types of genetic disorders, if they are treatable, and what we are doing as a human race to try to cure these disorders.
Genetic Counselor - Your role as the genetic counselor is to examine what types of treatment there are for the disorder and how you can advise these perspective parents on the disorder that their child has been exposed to.
Disorder Specialist - Your role as the disorder specialist is to karyotype the disorder, find out all of the signs and symptoms of the given disorder, and to find out what different prenatal tests could have been provided to the parent to have found out about this disorder prior to birth.
www.angelfire.com /apes2/aphyall/webquest/Geneticdisorderwebquest.htm   (1066 words)

  
 Genetic Screening: Genetic Disorders Detection: Merck Manual Home Edition
Genetic screening is used to determine whether a couple is at increased risk of having a baby with a hereditary genetic disorder.
Genetic screening involves assessing the couple's family history and may involve determining whether a prospective parent who does not have symptoms of a particular disorder has a gene for that disorder (carrier screening).
To determine whether having a baby with a genetic disorder is likely, doctors ask the couple about disorders that family members have had and about the cause of death in family members.
www.merck.com /mmhe/sec22/ch256/ch256b.html   (504 words)

  
 Disorder Guide
Overview: Genetic Alliance is a national coalition of consumers, professionals, and genetic support groups that work together to address the common concerns of children, adults, and families living with or at risk for genetic conditions.
With specialized backgrounds in medical genetics and counseling, genetic counselors work with medical personnel (usually M.D. Medical Geneticists) to give information, answer questions, and offer support to persons and families who have genetic disorders, are undergoing gene testing, or may be at risk for inheriting genetic disorders.
The possibility of laboratory errors, difficulties associated with interpreting test results, lack of treatment options for certain genetic disorders, and the absence of federal regulation related to handling personal genetic data all are factors that may outweigh the benefits associated with taking a particular genetic test.
www.ornl.gov /sci/techresources/Human_Genome/posters/chromosome/diseaseindex.shtml   (4732 words)

  
 HHMI News: Cause of Rare Genetic Disorder Points to Faulty Ion Channel
Researchers have tracked the cause of a rare disorder that produces muscle paralysis, heart arrhythmias and abnormal growth to mutations in a gene that encodes a pore-like protein that regulates the flow of potassium ions across cell membranes.
In beginning the search for the genetic cause of the syndrome, the researchers performed genetic linkage studies using a family that had a large number of members with Andersen's syndrome.
The genetic analysis revealed that that affected members of the family shared a genetic abnormality in a region of human chromosome 17.
www.hhmi.org /news/ptacek3.html   (1091 words)

  
 ScienceDaily: Missouri Genetic Disorder's Roots Untangled By International Team
Alterations of such large regions of genetic code that stably pass from one generation to the next are generally rare and have never before been observed in the human X chromosome.
When investigators determined that a region of genetic material on the X chromosome had been replaced, they turned to the Human Genome Project for data on what genes were in the missing segment.
Disorders of Hemoglobin is the first comprehensive reference on the genetic and acquired disorders of hemoglobin in over a decade.
www.sciencedaily.com /releases/2005/10/051024083834.htm   (2133 words)

  
 Birth Defects & Genetics: Genetic Counseling
Genetic counseling is a service to help individuals and families translate scientific knowledge into practical information.
A genetic counselor works with a person or family that may be at risk for an inherited disease or abnormal pregnancy outcome, discussing their chances of having children who are affected.
Those who have, or are concerned that they might have, an inherited disorder or birth defect.
www.marchofdimes.com /pnhec/4439_15008.asp   (598 words)

  
 What are Genetic Disorders?   (Site not responding. Last check: 2007-10-03)
A genetic disorder is a disease that is caused by an abnormality in an individual's DNA.
These disorders result when a mutation causes the protein product of a single gene to be altered or missing.
In these disorders, entire chromosomes, or large segments of them, are missing, duplicated, or otherwise altered.
gslc.genetics.utah.edu /units/disorders/whataregd   (123 words)

  
 Genetic Disorder Disease (via CobWeb/3.1 planetlab2.cs.umd.edu)   (Site not responding. Last check: 2007-10-03)
Wilson disease: a genetic disorder that causes excessive copper accumulation in the liver or brain.
Alpha-1 is a genetic disorder that increases the risk of emphysema.
The drug is used to treat Gaucherís disease, a genetic disorder affecting thousands of people around the world, including a disproportionate number of patients in Israel.
www.dnalabtesting.com.cob-web.org:8888 /genetic/geneticdisorderdisease   (1257 words)

  
 Fatal Genetic Disorder in Quarter Horse Foals Identified
Breakthrough research at the University of Minnesota has identified the genetic mutation that leads to a fatal condition in Quarter Horse foals, making it possible to determine whether individual horses can pass the condition on to their offspring.
Foals with the disorder, called glycogen branching enzyme deficiency (GBED), are unable to fully utilize glucose, the body's primary source of energy.
Next, the researchers identified the mutation in the gene that causes GBED and sought to determine how GBED is inherited by looking for the mutated gene in foals with the disorder as well as in their close relatives.
www.equisearch.com /horses_care/health/breeding/foaldisorder_021105   (887 words)

  
 Genetic Disorders HomePage
As part of their study in human genetics, many Plano biology students study and prepare a visual presentation such as a brochure or PowerPoint program on a specific genetic disorder.
This is combined with an overview of the Human Genome Project and the impact of biotechnology on genetic diseases.
These web pages are designed to aid the student by providing a graphic of each of the human chromosomes with many genetic disorder genes mapped on the chromosome.
k-12.pisd.edu /currInst/science/Genetic/genetic-home.htm   (174 words)

  
 Genetics Home Reference - Your guide to understanding genetic conditions
The genetics of more than 200 health conditions, diseases, and syndromes.
Genetics Home Reference provides consumer-friendly information about the effects of genetic variations on human health.
Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional.
ghr.nlm.nih.gov   (116 words)

  
 Medical genetics: 3. An approach to the adult with a genetic disorder -- Gilchrist 167 (9): 1021 -- Canadian Medical ...
gene (Mendelian) disorder, 0.2% have a chromosomal abnormality
genetic disorders are often overlooked in the differential diagnosis.
Genetic disorders in children and young adults: a population study.
www.cmaj.ca /cgi/content/full/167/9/1021   (3324 words)

  
 Genetic Disorder Corner   (Site not responding. Last check: 2007-10-03)
Find out about health professionals that assist families who are affected by genetic disorders.
Funding for the Genetic Disorder Case Study: Neurofibromatosis Type 1 activities was provided by The Children's Tumor Foundation, formerly The National Neurofibromatosis Foundation.
Funding for the other activities (except Genetic Counselors and Genetic Disorders Library) was provided by a Howard Hughes Medical Institute Precollege Science Education Initiative for Biomedical Research Institutions Award (Grants 51000125, 51000176) Funding for Genetic Counselors was provided by a grant from The R. Harold Burton Foundation.
gslc.genetics.utah.edu /units/disorders   (208 words)

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