Genetics Disorders Assignment (MEET IN ROOM 510 on MONDAY!!!!) Expectation: Evaluate the importance of some recent contributions to our knowledge of genetic processes and analyze social and ethical implication of genetic research.

Genetics Disorder Information Pamphlet Objective(s) of the Task: You have just been hired by a company devoted to studying and finding the cure for a particular genetic disorder. Part of their work involves educating the public about that particular disorder. Your task is to develop a pamphlet explaining the genetic disorder this company studies. The target audience for this pamphlet is the public; in particular, parents with children who have the disorder.

Important Dates Date Assigned: October 15, 2010 Date Due: October 22, 2010

Marking Guide for Assessment: Criteria the task is assessing Achievement Chart Category Mark Possible Mark Achieved Writing appropriate for audience—the pamphlet demonstrates an empathy and understanding to it, regarding the sensitivity to the audience. Application5 Content 1: Background (Who discovered disorder and how.) Knowledge/ Understanding 5 Content 2: Understanding of the genetic disorder, and how people “get it.” Knowledge/ Understanding 5 Content 3: Understanding of symptoms and how doctors diagnose the disorder. Knowledge/ Understanding 5 Content 4: Understanding of how a person lives with the disease, and if there are any treatments out there for the disorder Knowledge/ Understanding/ Application 5 Effective communication and development of pamphlet—written at the appropriate level correct terminology Communication5 Rough Notes: In point form. In your own words. Sources cited (research page). Thinking and Inquiry 5 Total Marks Possible 35

Genetic Disorder to be Researched Student(s) Completing Research Down Syndrome Turner Syndrome Klinefelter Syndrome Cystic Fibrosis Muscular Dystrophy Sickle Cell Anemia Hemophilia Spina Bifida Albinism Huntington’s Disease Cri-du-chat Syndrome Galactosemia Phenylketonuria Adenosine Deaminase Deficiency

Genetic Disorders

Sickle Cell Anemia Background (Who discovered it? How was it discovered?) The allele for blood shape is located on chromosome pair 11 Normal allele (A) and Sickle allele (S) are CODOMINANT In heterozygous individuals (AS), both normal and abnormal hemoglobin are produced –Individuals are usually healthy, but may notice problem in conditions of low oxygen (high altitude) –Known as ‘carriers’

Normal red blood cellsSickled red blood cells Sickle Cell Disease (How can you word this so that you are being sensitive to someone who is affected by this disease?) What does it actually do? –Affects the structure of hemoglobin Help bind oxygen in blood, carry to body cells Hemoglobin becomes ‘sticky’, and red blood cells collapse when there is no oxygen

Symptoms: Homozygous individuals with sickle-cell disease suffer from: –“Crises” in joints and bones –Strokes, blindness –Damage to lungs, kidneys or heart Untreated, many sufferers die before the age of 20 –Modern medical treatments can prolong life to age (for individuals who are homozygous for Sickle cell anemia)

Diagnosis/Treatment Diagnosis Chromosomal Tests Available (You need to find information on this.) Treatment: Is there a treatment for this? If so, what is it?

Cystic Fibrosis Background Cells that make mucus in the body don’t work properly. Recessive disorder (Is this understandable to parents?) Gene that codes for normal production of mucus is dominant (F) Faulty gene that codes for CF is recessive (f) Children born with CF usually have healthy parents. Ff = carrier FF = CF ff = no CF How could healthy parents pass this disorder on to their children???

...The genetics of CF Symptoms Mucus gets to thick Blocks lungs and causes breathlessness and chest infections Blocks enzymes getting to gut Food isn’t digested properly

Testing for CF Options Doctors can test for CF by taking cells from the women’s fetus and checking to see if there are two alleles for CF. Test for CF can result in miscarriage and or infection. –Not 100% reliable

Genetic testing... Test people for faulty allele Testing the fetus... –1) Amniocentesis testing: Needle inserted into uterus and takes a sample of amniotic fluid 0.5% chance of miscarriage (1 in 200 tests) –2) Chronic Villus Testing: Sample of the placenta is taken Can get results back earlier 2% chance of miscarriage (1 in 50 tests)

Symptoms individuals that suffer from hemophilia bleed excessively when injured they possess an abnormal allele for clotting factor VIII in the blood the most seriously affected people may bleed to death from minor cuts or bruises

this involves the progressive weakening of muscles and the eventual loss of muscle tissue due to a missing protein it is evident early as the child has difficulty standing up and is usually wheelchair bound by age 12 even normal breathing becomes difficult because the diaphragm and intercostal muscles are also affected the individual usually dies at around age 20 1:3500 male babies are affected

Huntington’s Disorder Background Caused by a dominant allele Causes degeneration of the cells Symptoms: –mood swings, depression, irritability, trouble driving, learning new things, remembering a fact, or making a decision –Uncontrollable movements –Difficulty with fine motor skills (Trouble feeding and shaving).

Gene Therapy Potential new treatment for certain genetic disorders. Involves inserting ‘healthy’ genes into an individual’s cells to treat a disease. It is hoped that gene therapy can be used to cure cystic fibrosis.

Presentation You are to create a pamphlet (Use one piece of blank paper.) to present you information. It is your choice how you choose to present your information. You must refer to the marking criteria to make sure you include all the required information.

Your Task… Read page 185 – Gene Therapy Answer Question 16 – page 189