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Doctor insights on: Genes And Gene Therapy Genetics Birth Defects

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Sickle cell anemia:is this birth defect only due to genetics?

Sickle cell anemia:is this birth defect only due to genetics?

Yes: It is a defect present from birth, yes. Would i call it a birth defect, no. It is a genetically derived abnormality in the metabolism of hemoglobin that results in sickling of the red cells under some circumstances. As a metabolic disease, it is inherited in a similar fashion to pku or cystic fibrosis. The term birth defect is more appropriate for a kid with malformation of an organ or body part. ...Read more

Genetic (Definition)

From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more


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What are the genetics tests for cml, can I get gene therapy if they find anything?

What are the genetics tests for cml, can I get gene therapy if they find anything?

Pcr-FISH-karyotype: There are 3 main types of genetic tests. The old standard is to take a blood sample from the hip (marrow) and grow cells to look at all the chromosomes (karyotype). It is a 'broad strokes' look but not as sensitive as the others. A fish test looks at blood cells with 'probes' to the known genetic changes (moderately sensitive) and a PCR test is a 'molecular' test of the dna (very sensitive). ...Read more

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Hello docs, is gene therapy the cure for genetic disease?

Hello docs, is gene therapy the cure for genetic disease?

Could be: Right now it is too early to say. It's in early research phases. Also, it depends on which genetic disease. A disease caused by a single amino acid substitution may be easier to "cure" than one with multiple genetic loci and epigenetic and/or methylation effects. ...Read more

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Help please? What is gene therapy and how might it be used as a treatment for cancer or for genetic disorders?

Help please? What is gene therapy and how might it be used as a treatment for cancer or for genetic disorders?

Gene therapy 4future: Gene therapy is still experimental. In the future it may help treating a disorder by inserting a gene into patient’s cells instead of drugs or surgery. Although it is promising option for some diseases (some inherited disorders, some types of cancer, ), there are still risks and it is still in studies to be sure it will be safe and effective. It is not tested for diseases that have no other cures. ...Read more

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Where can I get gene therapy or a genetic test for heredity neuropathy with liability to pressure palsies?

Where can I get gene therapy or a genetic test for heredity neuropathy with liability to pressure palsies?

Your doctor has to : Document recurrent focal compression neuropathies with a family history consistent with autosomal dominant inheritance, in which each child of a person with hnpp has a 50% chance of having it ; request a chromosomal microarray from the lab on your insurance company's list. 80% of cases are from a deletion of the pmp22 gene on the short arm of chromosome 17; 20% a from a mutation in pmp22. ...Read more

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What genetic birth defects are associated when two first cousins have a baby?

What genetic birth defects are associated when two first cousins have a baby?

Autosomal recessive: There is increased risk of autosomal recessive type genetic disorders when close family members have a baby together. There are many of them but some examples include cystic fibrosis, sickle cell anemia, and Tay-Sachs disease. ...Read more

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Is clinodactyly a genetic disorder, birth defect?

Is clinodactyly a genetic disorder, birth defect?

Yes, but .....: Clinodactyly is a curve of one or more fingers, which is pretty common, especially for the pinkies, and no big deal at all. Technically it's a minor birth defect and usually not a sign of any problem. But sometimes it's one component of a rare genetic syndrome, like wahab syndrome (http://omim.Org/entry/615170) or a more common one, like down syndrome. I have a little clinodactyly myself! ...Read more

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Can genetic testing prevent birth defects in pregnancy?

Can genetic testing prevent birth defects in pregnancy?

Nope.: Genetic prenatal testing can detect many chromosomal or microscopic dna defects - but it cannot prevent birth defects! 2-4% of all newborns will have a minor or major birth defect and the vast majority of those have unknown genetic underpinnings at this time, although many of us are working to change that. Take Folic Acid 1-5 mg daily to prevent 75-95% of major neural/cardiac fetal anomalies! ...Read more

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What diseases can gene therapy help cure?

What diseases can gene therapy help cure?

Gene therapy: Here is some comprehensive information about gene therapy. http://ghr.nlm.nih.gov/handbook/therapy.pdf ...Read more

Gene (Definition)

A hereditary unit consisting of a sequence of dna that occupies a specific location on a chromosome and determines a particular characteristic in an organism. Genes undergo mutation when their ...Read more


Dr. Nikolaos Zacharias
467 doctors shared insights

Birth Defects (Definition)

Birth defects is a term for structural or functional abnormalities that a baby is be born with. These defects can be the result of genetic mutations or external insults to the developing fetus, such ...Read more