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Topic: Genetic defects


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In the News (Mon 13 Feb 12)

  
  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.
The study of genetic diseases is a large scientific discipline, whose theoretical underpinning is based on Population genetics.
Genetic diseases are typically diagnosed and treated by geneticists.
en.wikipedia.org /wiki/Genetic_disorder   (1344 words)

  
 Minimizing Genetic Defects   (Site not responding. Last check: 2007-10-29)
Some common genetic defects are entropion (inverted eyelids), cleft palate, parrot mouth (undershot jaw, cryptorchidism (one or both testicles retained in the abdomen), hernias, abdominal impaction, and spider lambs, and even prolapses.
Genetic abnormalities occur when genes are missing, in excess, mutated or in the wrong location (translocation).
Jaw defects are present in almost all breeds of sheep and are associated with failure of the incisor teeth to properly meet the dental pad.
ag.ansc.purdue.edu /sheep/ansc442/Semprojs/defects/genetic_defects.htm   (1170 words)

  
 Chicago Center for Jewish Genetics Disorders - Resources for Individuals and Families - Educational Resources
A birth defect is an abnormality of structure, function or metabolism (body chemistry) present at birth that results in physical or mental disability, or is fatal.
Many other genetic diseases are inherited only when both parents (who do not have those diseases) happen to carry the same abnormal gene and pass it on to a child.
While the causes of most birth defects are not known, there are a number of steps a woman can take to reduce her risk of having a baby with a birth defect.
www.jewishgeneticscenter.org /resources/your_body/birthdefects.asp   (2000 words)

  
 Genetic counseling
With approximately 2,000 genes identified and approximately 5,000 disorders caused by genetic defects, genetic counseling is important in the medical discipline of obstetrics.
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.
A birth defect or genetic disorder is detected.
www.healthatoz.com /healthatoz/Atoz/ency/genetic_counseling.jsp   (1906 words)

  
 Genetic Defects and the Effects of Inbreeding   (Site not responding. Last check: 2007-10-29)
The genetic defect produces a phenotype that is very similar to a trait called "rat-tailed" syndrome that has been reported in Simmental cattle (Schalles and Cundiff, 1999: J. Anim.
However, the genetic basis and expression of the trait that occurs in Texas Longhorns appears to be somewhat different than in Simmental cattle.
Once the genetic basis is documented, then the breed associations can use this information to establish guidelines for assuring that bulls certified for artificial insemination are free of the defect.
home.austin.rr.com /doublehelix/defects.html   (3120 words)

  
 Birth Defects
A birth defect is an abnormality that is present at birth.
Some birth defects, such as neural tube defects and cleft lip and palate, are caused by a combination of genetic and environmental factors.
Common structural defects include heart defects, spina bifida, cleft lip and/or palate, hyspospadias (in which the opening in a male baby's penis is in the wrong place), and gastrointestinal defects.
www.hmc.psu.edu /childrens/healthinfo/b/birthdefects.htm   (1560 words)

  
 IDF - Genetic Testing   (Site not responding. Last check: 2007-10-29)
To find out whether or not genetic testing is an option for you or a family member, talk with your Immunologist or contact IDF at (800) 296-4433 or by email at idf@primaryimmune.org.
Carrier Testing: Once the genetic defect has been identified in an individual affected with a primary immune deficiency disorder, testing may be available to family members who are at risk for "carrying" a copy of the damaged gene.
To determine if genetic testing is available for your disorder and where the testing is done, contact IDF at (800) 296-4433 or by email at idf@primaryimmune.org.
www.primaryimmune.org /services/gene_test.htm   (688 words)

  
 Birth Defects - Lucile Packard Children's Hospital
Some of the severe birth defects can be life threatening, where a baby may only live a few months, or may die at a young age (in their teens, for example).
In a family where birth defects are already present in family members or the parents themselves, the chance for a couple to have a child with a birth defect may be higher than the background rate of 3 to 4 percent.
Testing is available for other genetic defects and disorders depending on the family history and availability of laboratory testing at the time of the procedure.
www.lpch.org /DiseaseHealthInfo/HealthLibrary/genetics/bdefects.html   (1324 words)

  
 Genetic Engineering
Society is in the midst of a genetic revolution that some futurists predict will have a greater impact on the culture than the industrial revolution.
Each human being carries approximately three to eight genetic defects that might be passed on to their children.
While this technology should be used to repair genetic defects, it should not be used to confer the role of creator on scientists.
www.leaderu.com /orgs/probe/docs/gen-engr.html   (2893 words)

  
 Birth defects
Genetic defects also can take place when the egg or sperm are forming if the mother or father passes along some faulty gene material.
The most common defect of this kind is Down syndrome, a pattern of mental retardation and physical abnormalities, often including heart defects, caused by inheriting three copies of a chromosome rather than the normal pair.
Talking to a genetic counselor after a child is born with a defect can provide parents with information about medical management and available community resources.
www.healthatoz.com /healthatoz/Atoz/ency/birth_defects.jsp   (2141 words)

  
 MoonDragon's Obgyn Information & Discussion - Genetic Screening & Counseling
Genetics is the study of inheritance and how the characteristics of one generation are passed on to another.
Genetic counseling is used to obtain and provide expectant parents with as much objective information as possible to help them arrive at a decision that is based on their own desires, values and ethics.
Though some defects are genetically transmitted, other defects are the result of environmental effects as the fetus develops in the womb and many of the defects that occur are spontaneous without traceable cause.
www.moondragon.org /obgyn/procedures/geneticscreen.html   (704 words)

  
 Genetic Defects   (Site not responding. Last check: 2007-10-29)
CEA is a defect in the formation of the eye present at birth.
A defect early in development results in the smaller than normal eye (microphthalmia).This is often associated with other eye abnormalities, including defects of the cornea, anterior chamber, lens and/or retina.
A ventricular septal defect is a hole (or defect) in the muscular wall of the heart (the septum) that separates the right and left ventricles.
www.nakshatras.net /genetic_defects.htm   (2498 words)

  
 Birth Defects & Genetics: Birth Defects
A birth defect is an abnormality of structure, function or metabolism (body chemistry) present at birth that results in physical or mental disabilities or death.
Many other genetic diseases are inherited when both parents (who do not have the disease) carry an abnormality in the same gene and pass it on to a child.
A genetic counselor can discuss the risks of birth defects in their children and arrange for blood tests (such as carrier tests), when needed.
www.marchofdimes.com /pnhec/4439_1206.asp   (2379 words)

  
 The Seattle Times: Nation & World: Nearly 8 million babies are born with genetic defects yearly, study finds
Nearly 8 million children each year are born with birth defects that are genetic in origin, and 70 percent of those defects could be prevented or mitigated, according to the first worldwide study commissioned by the March of Dimes.
Among the reasons for the high incidence of birth defects in developing countries, the report concluded, are increasing numbers of older women having babies, marriages between blood relatives and poor nutrition among pregnant women.
Genetic testing for defects such as phenylketonuria (a digestive disorder) and thalassemia can be relatively cheap, as little as $5 per test.
seattletimes.nwsource.com /html/nationworld/2002772932_babies31.html   (742 words)

  
 Fetal Development: Genetic Disorders
Genetic disorders are physical defects or illnesses that are caused by problems in your body’s genetic code.
PKU is a genetic disorder that affects children who have parents who carry the PKU genetic defect.
If you have any risk factors for genetic diseases, it is possible for you to speak with a genetic counselor and get tested to find out if you carry any genetic defects that may be passed on to your future children.
www.epigee.org /pregnancy/genetic_disorders.html   (866 words)

  
 The Research Centre - The National Genetic & Birth Defects Registry   (Site not responding. Last check: 2007-10-29)
Definition of a birth defect as defined by the State Department of Health: a birth defect is an abnormality of structure, function, or metabolism, whether genetically determined or a result of environmental influences during embryonic or fetal life.
Genetic disorders are medical conditions caused by mutations in a gene or a set of genes.
A genetic disorder is a disease caused by abnormalities in an individual’s genetic material (genome).
www.ngbdr.org.sa /FAQ.html   (542 words)

  
 Birth Defects FAQs2, NCBDDD, CDC
A genetic counselor explains the diagnosis, the possible role of genes, and medical aspects of the birth defect.
Genetic counselors are part of the health care team and have special training to help families learn about birth defects and conditions passed down through a family.
Not all birth defects can be prevented, but a woman can take some actions that increase her chance of having a healthy baby.
www.cdc.gov /ncbddd/bd/faq2.htm   (2527 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.
Pregnant women whose ultrasound examinations or blood testing indicate that their pregnancy may be at increased risk for certain complications or birth defects.
www.marchofdimes.com /pnhec/4439_15008.asp   (598 words)

  
 Birth Defects
A "birth defect" is a health problem or physical change, which is present in a baby at the time he/she is born.
Birth defects are also called "congenital anomalies" or "congenital abnormalities." The word "congenital" means "present at birth." The words "anomalies" and "abnormalities" mean that there is a problem present in a baby.
The 3 to 4 percent number is sometimes called the background rate for birth defects, or the population risk for birth defects.
www.healthsystem.virginia.edu /uvahealth/peds_newborn/ncomdeft.cfm   (1309 words)

  
 Ask the Pediatric Cardiologist - Causes of Congenital Heart Defects
Heart defects, especially those occurring as isolated problems in otherwise healthy infants, generally do not have readily identifiable genetic or environmental causes.
Depending on the defect, the chances of a sibling also being born with the same defect or other heart defect are about 2-3%.
All in all, congenital defects are not that common.
www.americanheart.org /presenter.jhtml?identifier=995   (425 words)

  
 eMedicine - Preimplantation Genetic Diagnosis : Article by JJ Marik, MD
Tests should be performed to confirm the diagnosis of the affected parent, to pinpoint the genetic change leading to the condition in question, and to ensure that the currently available technology can identify that genetic change in a polar body or a blastomere biopsy sample from a 6- to 8-cell embryo/blastocyst (see Image 1).
After the genetic laboratory provides detailed information, the future parents, along with their physicians, decide which embryos should be transferred or frozen and which should not be used.
Fertilized cells found to carry a genetic defect are not implanted and are allowed to die in the dish.
www.emedicine.com /med/topic3520.htm   (4615 words)

  
 Top 5 Genetic Birth Defects Named
More than 3 million children die of genetic birth defects by age 5, and almost as many may be permanently affected by their birth defect, the report shows.
More than 94% of babies born with birth defects and more than 95% of children's deaths due to birth defects occur in low- and middle-income countries, states the March of Dimes.
In the hardest-hit areas, 82 per thousand babies are born with a genetic birth defect, compared to a low of 39 per thousand births, the report shows.
www.webmd.com /content/article/118/112847.htm   (470 words)

  
 Control of Genetic Disease
Padgett is a veterinary pathologist at Michigan State University with special interest in canine genetics and what role breed clubs play in the control of the genetic diseases in their particular breed.
Thoroughly explain to any purchaser of potential breeding stock that the defective gene may be present and what will be required to eliminate the gene.
In any scheme used to control genetic diseases in dogs one produces an equal number of carriers whether a test mating or a dilutional system is used.
www.workingdogs.com /doc0031.htm   (717 words)

  
 BBC News | Health | Fertility technique 'may cause genetic defects'
A controversial fertility treatment for men may cause genetic defects in children, scientists have claimed.
They also noted that some infertile men had genetic irregularities that could contribute to their infertility - the idea being that nature protects the gene pool from these defects by preventing conception in the first place.
Writing a commentary in the same journal, in vitro fertilisation pioneer Dr Robert Edwards, of Human Reproduction Journals in Cambridge, Britain, said the rate of birth defects in babies born by ICSI was "similar to that for natural conception".
news.bbc.co.uk /1/hi/health/308197.stm   (536 words)

  
 AAEP Issues Statement About Genetic Defects - bloodhorse.com
The action was taken after the American Veterinary Medical Association (AVMA) recently re-stated a policy that surgical correction of genetic defects for the purposes of concealing the defects is unethical.
They once were thought to be entirely genetic in origin, but now knowledge indicates that "many, if not most," such conditions are "the result of intra-uterine events that result from extra-uterine influences," including viruses and toxins.
But their surgical correction should be allowed because while "variations from ideal may be undesirable, but they not genetic defects," the AAEP said.
www.bloodhorse.com /viewstory.asp?id=14491   (352 words)

  
 Joslin Diabetes Center scientists find genetic defects
BOSTON -- Scientists at Joslin Diabetes Center have found genetic regions that, when defective, allow the immune system to attack the pancreas -- the first in a series of mis-steps that lead to type 1 diabetes.
The genetic defect keeps the body from properly dealing with "errant" immune cells that it normally eliminates by a process called immunological tolerance.
They are part of the highly complex array of immune cells that normally work together to fight invaders such as bacteria or viruses, adapting specifically to each new invader.
www.eurekalert.org /pub_releases/2005-03/jdc-jdc032205.php   (776 words)

  
 Genetic Birth Defects   (Site not responding. Last check: 2007-10-29)
This cell houses our genetic information, that is, information about the characteristics we will be born with and who we might become in the world.
children are born with a genetic disorder or defect.
Anencephaly is a neural tube defect which occurs in the third or fourth week of prenatal development.
www.mc.maricopa.edu /dept/d46/psy/dev/Fall98/Prenatal/Pren.html   (1641 words)

  
 Prioritizing Genetic Defects
Since all dogs (or nearly all dogs) carry some genes for genetic defects, if you wish to control the defect in an effective manner, it is necessary to prioritize them because most dogs don't carry just one or two abnormal genes; they have 4 or 5 or more.
In fact, hiding the defects, rationalizing them, minimizing them, and in some cases flat out lying about them is causing the puppy lemon laws like the one recently passed in Florida to come into being.
Since there are an average of 4 or 5 defective genes per dog and since it is difficult to select against more than one (or perhaps, if you are lucky, two) trait(s) at a time, you need to prioritize the disorders.
www.sonic.net /~cdlcruz/GPCC/library/PadgettDefects.htm   (2188 words)

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