Research Project Questions

-Explain how mutations can cause genetic disorders.

A genetic disorder is a disease that is caused by an abnormality in an individual’s DNA. These abnormalities can range from a small mutation in a single gene to the addition of an entire chromosome or even a set of chromosomes, causing a large mutation. Single gene disorders result when a mutation causes the protein product of a single gene to be altered or missing. Chromosome abnormalities are where entire chromosomes are missing, duplicated or altered in some other way. Certain genetic disorders are caused by specific mutations of certain parts of the DNA. Genetic disorders are classified by the type of mutation (point mutation, deletion, whole chromosome missing extra or both, or an extended gene). Each chromosome has different mutations that will occur if that chromosome is mutated by any one of those types. There are hundreds of genetic disorders and are all caused by different mutations.

-Describe inheritance patterns.

Inheritance patterns trace the transmission of genetically encoded traits, conditions, or diseases to offspring. The different types of inheritance are single gene, multifactorial, and mitochondrial. Single gene inheritance is when a mutation caused in a single gene follow predictable patterns of inheritance among families. Multifactorial inheritance are mutations caused by genetic factors along with environmental factors. These diseases are not genetically determined, but are based on the genetic and environmental factors and becomes much more difficult to trace. Mitochondria is only transmitted through the mother’s egg, so only females can transmit the mutation, but it will be passed on to all the children, male and female.

-Choose a particular genetic disorder.

Down syndrome is a genetic disorder where a person has 47 chromosomes instead of the normal amount, 46. This extra chromosome comes from a copy of the 21st chromosome. Down syndrome symptoms can range from mild to severe. Some of these symptoms are flattened nose, small ears, small mouth, upward slanting eyes, impulsive behavior, slow learning, short attention span and poor judgment. Along with having Down syndrome, many different medical disorders come along with the disorder. There is no treatment for Down syndrome, but certain defects may require surgery. There are many organizations and groups who are highly involved in the research of Down syndrome and have “made it their priority to understand cognition in people with Down syndrome”. (Stanford School of Medicine Research Center).

-Stem Cell Research

While researching Stem Cell Research, I came across many different websites each with extreme opinions on the topic. For example, one website I found was called Do No Harm: The Coalition of Americans for Research Ethics. I know that stem cell research is a high debated topic, but in my opinion, I think it’s important to keep an open mind about it. Personally, I want to keep an open mind, because if there is a way to find cures to currently “un-curable” diseases, I think it’s important to do so. “A stem cell is a generic cell that can make exact copies of itself indefinitely. This cell has the ability to produce specialized cells for various tissues in the body—such as heart, brain tissue, liver tissue and muscle. Scientists are able to maintain stem cells forever, developing them into specialized cells as needed” (healthscout.com). Stem cell’s have many uses, but one major use for this research would be that stem cells are able to produce tissue, this tissue could be used to treat diseases where a patient’s cells or tissue are destroyed completely. Many diseases that have no “adequate therapy” would benefit I incredibly from stem cell research, diseases such as: Alzheimer’s, Parkinson’s, diabetes, spinal cord injury, heart disease, stroke, arthritis, cancer, and burns. Stem cells are human embryo’s, which is why SCR is such a debated and controversial topic. These human embryo’s are created, used and often destroyed, which makes the debate an ethical one. One must consider both sides of this argument. One side would say that SCR is unethical because it requires the destruction of a human embryo. The other side would say that SCR is good because it offers something in the development of treatment for a wide range of diseases, such as physical trauma and genetic disorders, previously with no cure. I think personally I need to keep an open mind of SCR. Though I do have strong ethics, this research could end up saving millions of lives and curing hundreds of diseases. This relates back to my disease of Down syndrome because SCR could eventually come up with a cure for Down syndrome, which is currently un-curable.

~Maddy Kenny