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Lecture 35. genetic prenatal diagnosis and gene therapy

Genetic counseling and prenatal diagnosis

Present-day medicine recognizes that genetic diseases are inherited based on the nature of DNA, genes , and chromosomes . Now that the human genome has been completely sequenced, scientists are better able to study how changes in DNA cause human disease. This will ultimately help in diagnosing and treating genetic disorders.However, until science has the knowledge to treat some of the more serious, sometimes fatal genetic disorders, the best option is prevention. Prevention of genetically transmitted diseases can consist of major choices: abstinence from pregnancy, egg or sperm donation, preimplantation or prenatal diagnosis and termination, or early treatment of affected pregnancies.

Prenatal diagnosis involves testing fetal cells, amniotic fluid , or amniotic membranes to detect fetal abnormalities. Preimplantation diagnosis is a new technique only available in specialized centers. It involves in vitro fertilization and genetic testing of the resulting embryos prior to implanting only those embryos found not to have the abnormal gene.

Genetic counseling and prenatal diagnosis provides parents with the knowledge to make intelligent, informed decisions regarding possible pregnancy and its outcome. Based on genetic counseling, some parents (in the face of possibly lethal genetic disease) have forgone pregnancy and adopted children while others have opted for egg or sperm donation from an anonymous donor who is not likely to be a carrier of the specific disease.

Many diseases transmitted as a single gene defect can now be diagnosed very early in pregnancy. Because of this some parents choose to become pregnant and have the disease status of the fetus determined early in the pregnancy. The pregnancy is continued if the fetus is disease-free. Parents who decide to continue the pregnancy with a defective fetus may be able to better prepare to care for the infant by being informed about the disease in advance. For example, genetic diseases that have a diet intolerance component may be treated with specialized diets for the mother and newborn baby.

Gene therapy: somatic and germline gene therapy

Somatic cell gene therapy

Many genetic diseases may be able to be treated with gene therapy to correct the defective genes.

Gene therapy is a therapeutic technique in which a functioning gene is inserted into the cells of a patient to correct an inborn genetic error or to provide a new function to the cell. It means the genetic modification of DNA in the body cells of an individual patient, directed to alleviating disease in that patient.

There have been several hundred human gene therapy clinical trials for several different diseases (including several cancers) in many countries (including the USA, EU, Canada, China, Japan, New Zealand...), and involving over 6000 patients world-wide.

Somatic cell gene therapy involves injection of 'healthy genes' into somatic (body) cells of a patient. The DNA change is not inherited to children.

Questions & Answers

what is the stm
Brian Reply
is there industrial application of fullrenes. What is the method to prepare fullrene on large scale.?
industrial application...? mmm I think on the medical side as drug carrier, but you should go deeper on your research, I may be wrong
How we are making nano material?
what is a peer
What is meant by 'nano scale'?
What is STMs full form?
scanning tunneling microscope
how nano science is used for hydrophobicity
Do u think that Graphene and Fullrene fiber can be used to make Air Plane body structure the lightest and strongest. Rafiq
what is differents between GO and RGO?
what is simplest way to understand the applications of nano robots used to detect the cancer affected cell of human body.? How this robot is carried to required site of body cell.? what will be the carrier material and how can be detected that correct delivery of drug is done Rafiq
what is Nano technology ?
Bob Reply
write examples of Nano molecule?
The nanotechnology is as new science, to scale nanometric
nanotechnology is the study, desing, synthesis, manipulation and application of materials and functional systems through control of matter at nanoscale
Is there any normative that regulates the use of silver nanoparticles?
Damian Reply
what king of growth are you checking .?
What fields keep nano created devices from performing or assimulating ? Magnetic fields ? Are do they assimilate ?
Stoney Reply
why we need to study biomolecules, molecular biology in nanotechnology?
Adin Reply
yes I'm doing my masters in nanotechnology, we are being studying all these domains as well..
what school?
biomolecules are e building blocks of every organics and inorganic materials.
anyone know any internet site where one can find nanotechnology papers?
Damian Reply
sciencedirect big data base
Introduction about quantum dots in nanotechnology
Praveena Reply
what does nano mean?
Anassong Reply
nano basically means 10^(-9). nanometer is a unit to measure length.
do you think it's worthwhile in the long term to study the effects and possibilities of nanotechnology on viral treatment?
Damian Reply
absolutely yes
how to know photocatalytic properties of tio2 nanoparticles...what to do now
Akash Reply
it is a goid question and i want to know the answer as well
characteristics of micro business
for teaching engĺish at school how nano technology help us
How can I make nanorobot?
Do somebody tell me a best nano engineering book for beginners?
s. Reply
there is no specific books for beginners but there is book called principle of nanotechnology
how can I make nanorobot?
what is fullerene does it is used to make bukky balls
Devang Reply
are you nano engineer ?
fullerene is a bucky ball aka Carbon 60 molecule. It was name by the architect Fuller. He design the geodesic dome. it resembles a soccer ball.
what is the actual application of fullerenes nowadays?
That is a great question Damian. best way to answer that question is to Google it. there are hundreds of applications for buck minister fullerenes, from medical to aerospace. you can also find plenty of research papers that will give you great detail on the potential applications of fullerenes.
how did you get the value of 2000N.What calculations are needed to arrive at it
Smarajit Reply
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Source:  OpenStax, Genetics. OpenStax CNX. Jul 29, 2009 Download for free at http://cnx.org/content/col10782/1.1
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