Research Paper

• Explain how mutations can cause genetic disorders:
  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.
  
  
• Describe inheritance patterns:
  Genetic conditions caused by a mutation in a single gene follow predictable patterns of inheritance within families. Single gene inheritance is also referred to as Mendelian inheritance as they follow transmission patterns he observed in his research on peas. There are four types of Mendelian inheritance patterns:
  Autosomal: the gene responsible for the phenotype is located on one of the 22 pairs of autosomes (non-sex determining chromosomes).
  X-linked: the gene that encodes for the trait is located on the X chromosome.
  Dominant: conditions that are manifest in heterozygotes (individuals with just one copy of the mutant allele).
  Recessive: conditions are only manifest in individuals who have two copies of the mutant allele (are homozygous).
  
  
  
• Choose a particular genetic disorder
  Down syndrome

Describe in detail:

The cause of the disorder
Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on the 21st chromosome, either in whole (trisomy 21) or part (such as due to translocations). The effects of the extra copy vary greatly among people, depending on the extent of the extra copy, genetic history, and pure chance.

Any research current to this disorder
Many institutes are working on a cure for down syndrome but as of right now, there are no current cures for the disorder. One thing that has been done is plastic surgery. That is to decrease the social stigma which sometimes leads to a better quality of life. Plastic surgery is very uncommon though.

Problems that arise from this disorder
People that have down syndrome often have physical features that are uncommon. They have mircogenia which is a abnormally small chin, oblique eye fissures, muscle hypotonia (poor mucle tone), a flat nasal bridge, a single palmar fold, a protruding tongue and more. Down syndrome can result from several different genetic mechanisms. This results in a wide variability in individual symptoms due to complex gene and environment interactions. Prior to birth, it is not possible to predict the symptoms that an individual with Down syndrome will develop. Some problems are present at birth, such as certain heart malformations. Others become apparent over time, such as epilepsy. Cognitive development in children with Down syndrome is quite variable. Language skills show a difference between understanding speech and expressing speech, and commonly individuals with Down syndrome have a speech delay, requiring speech therapy to improve expressive language. Fine motor skills are delayed and often lag behind gross motor skills and can interfere with cognitive development.

Any other interesting information relative to this disorder
Pregnant women can be screened for various complications during pregnancy. Many standard prenatal screens can discover Down syndrome. Genetic couseling. along with genetic testing, such as amniocentesis, chorionic villus sampling (CVS), or percutaneous umbilical cord blood sampling (PUBS) are usually offered to families who may have an increased chance of having a child with Down syndrome, or where normal prenatal exams indicate possible problems.

• Stem cell research

What is it?
Stem cell research is a relatively new technology that takes primitive human cells and develops them into most any of the 220 varieties of cells in the human body, including blood cells and brain cells.

Why is it so controversial?
The controversy over stem cells is from the destruction of fertilized human eggs when harvesting embryonic stem cells, therefore killing the human child that the egg could have developed into. Currently, scientists and researchers are only using embryos that are unwanted and would already not be given an opportunity to develop into a human being. For instance, infertility doctors typically create several embryos for women who are unable to naturally become pregnant, and then the doctor chooses the best fertilized egg to implant into the woman and disposes of all the remaining eggs. Instead of these embryonic eggs going to waste, they are sometimes used for stem cell research.

Your stance on if it should/ should not be legal
I think that stem cell research should be legal if fertilized human eggs aren’t being destroyed. I think that stem cells could potentially (if done correctly with enough research) help people that have many disorders or diseases have a normal life that many others already have.

Potential impact of SCR on your disorder
Stem cell research could possibly find a cure for down syndrome although at this moment there is no cure for it. It could give those people a normal life that they do not have.