Assignment – Human Genetic Conditions

You are to choose one condition that you would like to research. You may choose to research a condition that a member of your family or someone you know has. From your research, you will produce a poster (ideal size is 22” by 14”). The poster will need to include the name of the condition, the cause of it, its mode of inheritance, symptoms, treatments, and diagnosis(prenatal or otherwise). The project will be due on ______

Possibilities to research are: Adrenal Hypoplasia Congenita, Limb-Girdle Muscular Dystrophy Adrenoleukodystrophy, Lowe Syndrome Achondroplasia Agammaglobulinemia, McKusick-Kaufman Syndrome Albinism Alagille Syndrome Nemaline Myopathy Color Blindness Alexander Disease Neuronal Ceroid-Lipofuscinosis Cri-du-Chat Syndrome Alport Syndrome Nijmegen Breakage Syndrome Cystic Fibrosis Alstrom Syndrome Noonan Syndrome Down’s Syndrome Amyotrophic Lateral Sclerosis Norrie Disease Duchenne Muscular Dystrophy Androgen Insensitivity Syndrome Oculocutaneous Albinism Type 1 Fragile X Syndrome Angelman Syndrome Pallister-Hall Syndrome Huntington Disease Biotinidase Deficiency Parkin Type of Juvenile Parkinson Hemochromatosis Branchiootorenal Syndrome Disease Hemophilia Choroideremia Pendred Syndrome Hypochondroplasia Cockayne Syndrome Peutz-Jeghers Syndrome Klinefelter’s Syndrome Coffin-Lowry Syndrome Prader-Willi Syndrome Marfan’s Syndrome Congenital Contractural Retinitis Pigmentosa Neurofibromatoses Arachnodactyly Rett Syndrome Osteogenesis Imperfecta Congenital Ichthyosis, Rhizomelic Chondrodysplasia Punctata PKU Cystinosis Rubinstein-Taybi Syndrome Rh Disease Dentatorubral-Pallidoluysian Atrophy Schimke Immunoosseous Dysplasia Sickle-cell Anemia Dystrophinopathies Smith-Lemli-Opitz Syndrome Tay-Sachs Disease Epidermolysis Bullosa Simplex Smith-Magenis Syndrome Thalassemia Fabry Disease Spondyloepiphyseal Dysplasia Tarda, Wilson’s Syndrome Galactosemia Stickler Syndrome Turner Syndrome Gaucher Disease Tuberous Sclerosis Complex Williams Syndrome Glycine Encephalopathy Usher Syndrome Type I Others (okayed with me, many Hermansky-Pudlak Syndrome Usher Syndrome Type II possibilities listed at the sites Hexosaminidase A Deficiency Von Hippel-Lindau Syndrome below) Incontinentia Pigmenti Waardenburg Syndrome Type 1 Krabbe Disease Werner Syndrome Lenz Microphthalmia Syndrome Wolf-Hirschhorn Syndrome Lesch-Nyhan Syndrome Y Chromosome Infertility Li-Fraumeni Syndrome

Possible Resources: www.kumc.edu/gec/support/ - A great place to start. Many listed conditions that have links. http://www.diseaseinfosearch.org/ leads to many places http://www.genetests.org http://ghr.nlm.nih.gov/ click on Conditions

Human Genetic Condition Poster Rubric Student Name ______

Condition Studied ______

Low Benchmark Middle Benchmark High Benchmark

Name of No title on Poster Title on Poster is small, sloppy, Title on Poster that states the name Condition hard to find, or does not fit topic. of the condition is easily read and easily seen. Cause No section on Cause section is not labeled, not Labeled section that accurately and - what does the Cause understandable, or does not use clearly describes the cause in condition due student’s words student’s own words. biologically Mode of No section on Mode section is not labeled, not Labeled section that accurately and Inheritance Mode understandable, or does not use clearly describes the mode of student’s words inheritance in student’s own words. Symptoms No section on Symptoms section is not labeled, Labeled section that accurately and Symptoms not understandable, or does not clearly describes the symptoms in use student’s words student’s own words. Treatments No section on Treatments section is not Labeled section that accurately and Treatments labeled, not understandable, or clearly describes the treatments in does not use student’s words student’s own words. Diagnosis No section on Diagnosis section is not labeled, Labeled section that accurately and - how do they Diagnosis not understandable, or does not clearly describes the diagnosis in figure out that a person has the use student’s words student’s own words. condition References No References Section is not labeled, list is A full, labeled list of References is partial, or not in a proper form. provided in proper form. Creativity Little time to put May have a picture, May use Colorful, Interesting, Time to put together, No picture little color, may be neat together, one picture, Neat, eye catching Presentation No Presentation Not all Speaking skills used, Did State the major facts, use good not cover all parts. Read directly speaking skills, eye contact, good from the poster. volume, clarity