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Human Genetic Disorder Project- Honors 17-18           DUE:_February 1, 2018This is an INDIVIDUAL or SINGLE PARTNER research project designed to help you take notice of how certain mutations can lead to serious genetic disorders.  Choose your disorder wisely, and take the time to really learn and understand your topic.  You will present your information to the class after it is due. Guidelines:Part 1: Research your assigned disorder and summarize your findings in a typed format using the outline below.Sickle Cell AnemiaOutline:Title: Sickle Cell DiseaseDiscovery:  Sickle Cell Anemia is a condition where sickle cell disease causes anemia, a disease where blood cannot carry the amount of blood it is supposed to. In 1904, James Herrick started treatment on an a young, African-American patient with anemia Walter C. Noel. He looked at a blood sample under a microscope, and saw sickle shaped cells, so he called it ‘sickle shaped cells.’ This was the medical discovery of the disease. Over the years, more cases arose and were studied. In 1927 Hahn and Gillespie discovered the sickle cell trait, for people who carry the trait but not the disease. In the late 40’s and early 50’s, discoveries of how the disease works were discovered. Col. E. A. Beet, a military doctor of Portuguese East Africa (modern day Mozambique) explained how Sickle Cell Disease and the Trait were related. If the trait was received by both parents, then an offspring would have the disease. If not, they would carry the trait. In 1951, Nobel-Prize winning chemist Dr. Linus Pauling discovered hemoglobin. Hemoglobin structure was different in people with SCD (Sickle Cell Disease/Disorder), and he coined the phrase ‘molecular diseases.’ Thousands of these were discovered. Dr. Vernon Ingram discovered the details of SCD, why it functions the way it does, and some applied treatments. These treatments significantly expanded lifetimes of those with the disease. A full cure has not been discovered.Causes:  In the genetics that code for the various amino acids in proteins that make hemoglobin. Hemoglobin is the protein that is essential to the functioning of blood cells. A Hemoglobin is composed of a heme molecule and 2 globins. The human genome can code for  six varieties, named ‘alpha’ ‘beta’ ‘gamma’ ‘delta’ ‘epsilon,’ and ‘zeta,’ the first six letters in the greek alphabet. Almost all humans at the age of 3 months or forward operate with an alpha/beta pair. One point mutation in the beta globin causes this disorder, a switching of adenine for thymine. This causes the beta globin to function impaired, to multiple complications, including anemia, stroke, underdeveloped spleen leading to weakened immune system, sudden pain attacks, and in rare cases, death. There is no way to correct the disorder, only to avoid and alleviated symptoms.Phenotype (physical characteristics): This disease is caused by a faulty b-globin gene. It causes hemoglobin to affect the red blood cells, causing the red blood cells to congregate and make strands. This causes anemia, deficiency of properly functioning red blood cells, painful crisis, a pain in the body with multiple explanations, (blockages of small blood vessels, or/and (for bone) bone marrow having blood blockages), organ damage usually consisting of spleen in children (sometimes leading to quite serious infections) (and anemia, it affects the immune system, causing errors in stem cell markings, leading to less white blood cells), delayed growth due to bone marrow energy drain, stroke, acute chest syndrome (complicated, but where the blood pools in the lungs), priapism in males (a form of erectile dysfunction), enlarged kidneys; kidney damage, jaundice (skin and eyes go yellow, cause: degradation of hemoglobin), and with some, visual problems; including but not limited to: blood restriction bleeding, scaring; that might lead to blindness.Mode of Inheritance: Genetics, passed by parents, in the gene that codes for globin. Only one non-mutated set is needed, so if both parents carry the trait, (contain one set of mutated and not mutated beta globin genes) there is a 25% that the child will inherit the disorder. Carriers are not affected as much by the disorder, being able to produce sufficient properly functioning red blood cells. Diagnosis: Diagnosed by blood screening after infant is born, not before. If results come back positive, newborn child is referred to a hematologist (doctor with a specialty in blood disorders), or a pediatric hematologist (child doctor with a specialty in blood disorders. Multiple tests possible. Complete Blood Count (CBC); countr blood count. Sickle Cell disease causes fewer cells. Hemoglobin electrophoresis; applies electric current in gel like material to hemoglobin. Even though amino acid differences is minute, characteristics of which globin types is revealed. Isoelectric Focusing and High-Performance Liquid Chromatography (HPLC) are similar tests. MosPopulation Affected:  Areas where malaria is common, such as Sub-Saharan Africa, India, the Middle East, or the Mediterranean Region. This mutation originally helped indigenous peoples to survive malaria epidemics. However, medical technology has advanced enough to combat malaria, but the trait still remains.Treatments:No Cure. Only ways to alleviate pain and avoid complications. Diagnosed after multiple blood tests to confirm the existence of ‘S’ trait. No cure. Partial cure: bone marrow transplant. Not recommended for those above 16, due to more complications. Donors difficult to find. Death possible. Most cures aimed at alleviating pain, avoiding crisis, and stopping complications. Medications given: Antibiotics (in ages 2+/2-5, to stop infections) Pain relievers (for pain) and Hydroxyurea (stimulates fetal globin, requiring less blood transfusions) and blood transfusions. Future: Case Study: Requirements for your summary “essay”:Follow the outline above to summarize your findings in your own words. You must include all information from the outline above and display that you do understand everything that you researched in complete sentences. This means if you quote something, Need AT LEAST one paragraph per section (even if it is just a couple sentences long) so that I can easily identify the topics of research as I grade. Length: 1.5-3 pages- DO NOT GO OVER 4 pages!!! I will stop reading!Format:  12 point font, 1 inch margins, double spaced.  MLA or APA style ok.Bibliography: you must include AT LEAST 3 resources, although you will most likely need more.  Site them at the end of your paper as follows: name of website. URL. Date accessed.Ex:  “OWL Purdue online Writing Lab.”  Welcome to the Purdue OWL.  http://owl.english.purdue.edu/owl/resource/557/01/.  November 19, 2013 You will submit your paper to turnitin.com by February 1, 2016 at 11:59p.m.***REMEMBER*** PLAGIARISM OF ANY KIND WILL MEAN YOU WILL NOT RECEIVE POINTS FOR THIS PROJECT! YOU HAVE BEEN WARNED…. If you do your paper with a partner, you must participate on google docs so I can check that you have contributed equally to the writing of this work.  I still need a paper copy and the submission to turn in in, in addition to your submission of your google doc to google classroom.Part 4: Present your findings Transpose the information from your paper into a PowerPoint, Poster, Movie, website, or other creative presentation format.  (PowerPoint/Google Slides/Prezi preferred, but posters are allowed if no access to internet at home).  Your PowerPoint should include:All same information as your paper does, but in SHORTER form.  This means that sentence fragments and short, easy to view lists are a necessity.  There should be very few, if any, complete sentences on your slides.  Just like how I make NOTES!Length: 5 minute MAXIMUM- practice timing ahead of time!Pictures are REQUIRED!!!!  Put in as many as you can to entertain and educate your classmates! For every picture you include though, you must site your sources, and explain their importance to the class, or you lose major credit!You will present your information to the class.  Practice your speech in advance, as you are also graded on the quality of your presentation and your level of understanding (without reading your slides word for word).Extra Credit will be given to students who dress professionally for your presentations (Sunday best, slacks or skirt/dress at or below the knee, nice blouse or collared shirt, NO JEANS OR TENNIS SHOES ALLOWED). Works CitedBarrett, Julia. “Sickle cell anemia.” The Gale Encyclopedia of Science, edited by K. Lee Lerner and Brenda Wilmoth Lerner, 5th ed., Gale, 2014. Science in Context, http://link.galegroup.com/apps/doc/CV2644032025/SCIC?u=etiwanda_hsl&xid=65dbf759. Accessed 10 Jan. 2018.Winter, William P. “A Brief History of Sickle Cell Disease.” A Brief History of Sickle Cell Disease, Howard University, www.sicklecell.howard.edu/ABriefHistoryofSickleCellDisease.htm.

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