Genomics: Towards a Healthier You
NHGRI social and behavioral researcher Barbara Biesecker talks about the importance of family history in predicting disease risk for single gene disorders and complex genetic disorders. The singer and performer T-Boz shares her personal story about living with sickle cell anemia as one example of genetic health issues. Ms. Biesecker highlights the use of genetic testing and reasons whether or not to be tested. The career of a genetic counselor is highlighted. For more information and video presentation with slides please go to: www.genome.gov
Aimee Anido MS, CGC – Living with Fragile X
Aimee Anido MS, CGC (Emory University) compares Fragile X Syndrome to other genetic disorders. This is a web extra from the documentary “Living with Fragile X”.
Inherited Health provides information on what happens at a genetic counseling appointment and how to prepare. For more information, visit www.InheritedHealth.com
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Ask The Experts About Genetic Counselor Jobs
Chris asks…
Is being a genetic counselor fun?
- high school student researching jobs in genetics, just wondering if there is anything important or unusual that I should know about.
admin answers:
I’m a genetic counselor and I love my job.
1. I love talking to people about their family histories. It is interesting and I get to hear a lot of great stories.
2. I love teaching people about genetics. Most people are interested in how things are running in the family and ask a lot of great questions.
3. I love learning about genetic conditions. There are thousands of genetic disorders out there. While some diseases can be devasting to the people who have them, the disorders themselves reveals so much about how our bodies work. It is fascinating.
If you are interested in genetic counseling, visit the National Society of Genetic Counselors website www.nsgc.org. You can find a local genetic counselor on that website and he or she may be willing to let you job shadow. We often have high school students follow us around a day at our office.
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Thompson & Thompson Genetics in Medicine: With STUDENT CONSULT Online Access
Thompson & Thompson Genetics in Medicine: With STUDENT CONSULT Online Access
Through six editions, Thompson & Thompson’s Genetics in Medicine has been a well-established favorite textbook on this fascinating and rapidly evolving field, integrating the classic principles of human genetics with modern molecular genetics to help you understand a wide range of genetic disorders. The 7th edition incorporates the latest advances in molecular diagnostics, the Human Genome Project, and much more. More than 240 dynamic illustrations and high-quality photos help you grasp complex
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Thalassemia Lawsuits Overview
Thalassemia is one of a number of detectable genetic disorders that could be eliminated as part of a breeding program to improve the quality of the human species. Simple blood tests (on the order of those that are still required in some states) can detect whether a person is a carrier for the genetic defect responsible for the disorder, which will hopefully encourage carriers to refrain from breeding or even abort potentially defective fetuses.
However, the absence of premarital blood test requirements and the inaction of negligent doctors stand in the way of removing this genetic impairment from the human genome.
What Is Thalassemia?
Thalassemia is a genetic defect in which the body is unable to correctly produce one of the proteins associated with the hemoglobin molecule, which is responsible for the major chemical actions performed by red blood cells, namely carrying oxygen to the body and facilitating the removal of carbon dioxide as dissolved carbonate molecules. There are two different proteins that make up the hemoglobin unit, known as the alpha protein and the beta protein. People who are unable to produce the alpha protein are described as having alpha thalassemia, while those who cannot produce the beta protein are described as having beta thalassemia.
How Will I know if I Am at Risk?
Unlike some genetic disorders, thalassemia can appear in minor forms that are relatively imperceptible to the sufferer. A person with mild thalassemia may be indistinguishable from a person who is short-winded for other reasons, and the person may never be diagnosed. This means that unlike other genetic disorders, you will not necessarily know that you have a family history of thelassemia.
Some genetic heritages are more likely to have thelassemia than others. Persons of Southeast Asian, Indian, Chinese, or Filipino heritage are more likely to have alpha thelassemia. Persons of Mediterranean, Asian, or African ancestry are more likely to have beta thelassemia, but these conditions affect persons of other ethnicities as well.
The only way to know if you are a carrier for thalassemia is to have a blood test that screens you for this genetic condition.
My Doctor Didn’t Screen Me
Doctors who are counseling you before you decide to have children, whether obstetricians, GPs, or specialist genetic counselors, should encourage you to get tested for thalassemia, especially if you belong to one of the ethnic groups listed above. If your doctors fail to advise this, they may be guilty of medical negligence if your child is born with thalassemia. Once your child is born and diagnosed, you are looking at a lifetime hemmed around by serious restrictions for your pride and joy. Your doctor should take partial responsibility and contribute toward the lifetime of expensive care. Most doctors will not do this, so it is necessary to file a wrongful birth lawsuit.
To learn more about wrongful birth lawsuits, consult the webpage of the New Jersey medical malpractice lawyers at Weiss & Paarz P.C.
