Thursday, October 22, 2009

Genetic Disorder Research Project

A genetic disorder is a disease that is caused by an abnormality in an individual's DNA. Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes.

Genetic conditions caused by a mutation in a single gene follow predictable patterns of inheritance within families. Most diseases have multifactorial inheritance patterns. As the name implies, multifactorial conditions are not caused by a single gene, but rather are a result of interplay between genetic factors and environmental factors.A typical pedigree from a family with a mutation in the BRCA1 gene. Fathers can be carriers and pass the mutation onto offspring. Not all people who inherit the mutation develop the disease, thus patterns of transmission are not always obvious.
Mitochondria are only inherited from the mother's egg, thus only females can transmit the trait to offspring, however they pass it on to all of their offspring. The primary function of mitochondria is conversion of molecule into usable energy. Thus many diseases transmitted by mitochondrial inheritance affect organs with high-energy use such as the heart, skeletal muscle, liver, and kidneys.

Hemophilia- is a group of hereditary genetic disorders that impair the body's ability to control blood clotting or coagulation, which is used to stop bleeding when a blood vessel is broken.
· Hemophilia is an inherited disease. Specifically, hemophilia is caused by mutations in the F8 or F9 genes. In most cases, hemophilia is passed from a female carrier to her son; however, it is possible for boys with hemophilia to be born to mothers who are not carriers when there is a random mutation in the gene as it is passed on to the child. Although it is very rare, it is possible for a girl to be born with hemophilia.
· Hemophilia is caused by a defect in one of the genes that determines how the body makes blood clotting factors 8 and 9. These genes are located on the X chromosomes, which determine whether a baby is a boy or girl.
· Mutations in the F8 or F9 genes cause hemophilia. Mutations in the F8 gene cause hemophilia A, while hemophilia B is caused by mutations in the F9 gene.

· The proteins made by these genes play a critical role in the process of blood clotting. Mutations in either gene prevent clots from forming in response to injury, which lead to excessive bleeding that can be difficult to control.

· A man who has hemophilia cannot pass the disease on to his sons; however, all of his daughters will be carriers.

Stem cells are seen by many researchers as having virtually unlimited application in the treatment and cure of many human diseases and disorders including Alzheimer's, diabetes, cancer, strokes, etc.

Some people view the killing of any embryo in order to extract its stem cells to be a form of homicide. They are generally opposed to such research. Others disagree. They believe that an embryo has the potential to develop into a person, but is not a person itself. They note that an embryo is not sentient; it has no brain, sensory organs, ability to think, memory, awareness of its surroundings, consciousness, internal organs, arms, legs, head, etc. They feel that research using stem cells derived from embryos is ethical. Fortunately, if IPS cell technology develops as expected, it will eventually replace the need to derive stem cells from embryos.

I agree with some of the stem cell research out there, I think that if they can find a way to cure cancer and other diseases that are deadly and yet to find the cure to, would be amazing.

Mouse embryonic stem cells treated in culture with a growth factor and then injected into the liver reverse a form of hemophilia in mice analogous to hemophilia B in humans.

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