Unit 2.1.1 Chronicles of a Genetic Counselor
Genetic counselors provide information and support to people who have, or may be at risk for, genetic disorders. They can meet with individuals or families, who may or may not be expecting, to discuss genetic risks in their future offspring or in their family history. They may also order genetic tests and evaluate the results of the investigation to determine genetic disorders present.
Cystic Fibrosis:
This is caused by a mutation in a gene that changes protein that regulates movement of salt in and out of cells. The result is a thick, sticky mucus in the respiratory, digestive, and reproductive systems. There's a 50% chance of being a carrier, a 25% chance of being unaffected, and a 25% chance of having it. Symptoms include: cough with mucus, wheezing, breathlessness, lung infections, foul-smelling stool, poor weight gain/loss, intestine blockage, and constipation. There is no cure and the median survival age is 29 years.
It's also most common in children and young adults. Diagnosis tools include: newborn screening, antenatal screening, carrier testing, sweat testing, and genetic testing. Treatment is to only improve symptoms, which include medications such as: antibiotics and bronchodilator drugs.
Cystic Fibrosis:
This is caused by a mutation in a gene that changes protein that regulates movement of salt in and out of cells. The result is a thick, sticky mucus in the respiratory, digestive, and reproductive systems. There's a 50% chance of being a carrier, a 25% chance of being unaffected, and a 25% chance of having it. Symptoms include: cough with mucus, wheezing, breathlessness, lung infections, foul-smelling stool, poor weight gain/loss, intestine blockage, and constipation. There is no cure and the median survival age is 29 years.
It's also most common in children and young adults. Diagnosis tools include: newborn screening, antenatal screening, carrier testing, sweat testing, and genetic testing. Treatment is to only improve symptoms, which include medications such as: antibiotics and bronchodilator drugs.
Unit 2.1.2 Copying Our Genes
PCR (polymerase chain reaction) is an efficient and cost-effective way of copying or amplifying small segments of DNA and/or RNA. Scientists, and doctors, can use this technique to identify pathogens, or trace amounts of DNA at a crime scene, or to diagnose genetic conditions.
Unit 2.1.5
Venn diagram comparing Amniocentesis & Chronic Villus Sampling
The karyotyped disorder I chose was Turners Syndrome which is identified by a missing or incomplete Y chromosome. Some genes on the Y chromosome are involved in growth and sexual development which is why girls with this disorder are shorter and have incomplete sexual characteristics than normal. Life as a child with this diagnosis would be relatively normal. They could eventually lead normal sex lives, although most can not get pregnant naturally. They'd need to take estrogen to grow or develop sexually, and may require a specialist due to arithmetic, visual-memory, visio-spacial skill problems, and may have trouble understanding non-verbal communication.
Unit 2.2.1 Gene Therapy
Gene therapy is the transplantation of normal genes in place of missing or defective ones in order to correct or fix genetic disorders.
Unit 2.2.2 Reproductive Technology
Reproductive cloning is when you produce a clone with the use of DNA, then allow it to live, while therapeutic cloning is when you produce a clone, but then kill it so that you may use its stem cells. I feel reproductive cloning is more acceptable than the other because you are using the ability of cloning to reproduce new life rather than for research and you're not killing an essential person in the process. Cloning should be offered as a reproductive option for humans because this way future parents can make the decision for when they'd like to conceive a child rather than base it off chance, and this way, if a woman is infertile, then she can have her child without issues.