Genetic Disease Spring 2012

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Genetic Disease Project Wiki

This page will become a table of contents of the diseases. As you assemble your pages, I will insert a map of the human genome and place links to your pages on the approximate location of the targeted chromosome.


To Begin, make sure that the disease you choose is not on the list of other diseases chosen from previous semesters. Next, add your genetic disease and your name below by editing the Spring 2012 section of this page. Copy the [[Disease Name]] - Your Name line and paste in a copy. Check the Preview and if the Disease Name shows as a red link, you are about set to go. Save this page.

To begin making your page, first click on the Content Template link. This will give you a template to work from. To copy the template, you must click the edit button. Now you can see the page in wiki format; to get the template, just copy everything in the edit window then click Cancel. Next come back to this page and click on your red link. You will be able to edit the new page: paste in the Template content, then edit it with your information.

The template is divided into sections to organize your content. A series of web pages in similar formats is easier for the user, so please use this format. You may have other information to add, feel free to do so, and add more headers on your page if needed. Remember too, to cite your sources of information. You may also add images to supplement your text.

Remember the guidelines in the syllabus regarding plagiarism. If I find that you have copied and pasted a single sentence of 'your' content without appropriate citation, you will receive a zero for this project and drop a letter grade for the class. USE YOUR OWN WORDS; they may not be as elegant as those of professional scientists and professional editors but they are YOUR work. I want to see YOUR WORK.


You must have a topic selected by Friday, March 23. You will be graded according to the Genetic Disease Rubric. Pages must be completed by 3:30 PM, Friday, April 27, 2012

Links to start with

Genetics Home Reference

Online Mendelian Inheritance

Project Contributions

Spring 2012

Refsum Disease-Hira Aslam

Oral-Facial-Digital Syndrome - Courtney Gay

Leber Optic Atrophy (MTND4, LHON11778A) - Jeffrey Murray

Noonan Syndrome - Vu Tran

WAGR Syndrome - Kiwana Burks

Stickler Syndrome - Emma Ali

Smith-Magenis Syndrome - Blaise Chamberlin

CHH - cartilage-hair hypoplasia - Angela Fulton

APOB (apolipoprotein B) Hypercholesterolemia - Abdul Khan

Aicardi syndrome-Ahmed Tahir

Nijmegen Breakage Syndrome- Dana Orban

Pulmonary hypertension BMPR2 2q33-34 - Lincy Mathew

Barth Syndrome TAZ - Jennifer Parks

Cowden Syndrome - Hope Tranberg

Wilson Disease - ATP7B (13q14.3) - Melinda Carlson

Pantothenate Kinase-Associated Neurodegeneration (PKAN) - Brandon Means

Grönblad–Strandberg Syndrome(pseudoxanthoma elasticum)- Alina Karim *Pick a specific locus

Hyperammonemia (Xp21.1)- Dusty Garth

Usher Syndrome (3q21.3) - Adnan Iqbal

Prader–Willi syndrome - Asad Yusuf

Pseudohypoaldosteronism type 2 (PHA2) - Vince Farrugia

Alexander Disease - Terrence Toussaint

Kabuki Syndrome - Stefanie Davis

Spastic Cerebral Palsy _ chromosome 2q24-31.1-Chau Huynh *Pick a specific locus

Alport syndrome-(COL4A5)- Yeji Park

SOX2 anophthalmia syndrome- Jasmine Ikejiani

Tuberous sclerosis (TSC) 16p13- Sanjin Tankovic

Protanopia - Nic Quintero *Pick a specific locus

Congenital fibrosis of the extraocular muscles (CFEOM1A) - Possala Wang

limb-girdle muscular dystrophy type 2L (11p14.3) - Andrew Vannerson

Saethre-Chotzen syndrome (7p21.2) - Michael Hayes

Achondroplasia (4p16.3) - Kelly Bennett

Osteosarcoma (17p13.1) - Carlton Hardison

Interactive Figure of Previous Contributions

Mouse over an arrow to see the name of a Disease page, then click it to go there!
Blue=Spring 2010; Green and Yellow=Fall 2010; Orchid=Spring 2011; Red=Fall 2011

Crohns_disease IL23R1p36_deletion_syndromeStargardt_Macular_DegenerationMarshall syndromeGaucherCrohns_disease IL23RProgeriaProstate_CancerVan der Woude syndromeLimb Girdle Muscular DystrophyLactose IntoleranceMowat-Wilson_syndromeEhler-Danlos COL3A1Waardenburg_syndromeEssential TremorHurlerWolf-Hirschhorn_syndromeHuntington'sFacioscapulohumeral Muscular Dystrophy-FSHDCri_du_chat CTNND2Cri-du-Chat SyndromeTreacher Collins SyndromeHemosiderosisNarcolepsy3-M_Syndrome_(CUL7)Williams_SyndromePendred syndromecystic fibrosisWerner's syndromeEpidermolysis Bullosa PLECBaller-Gerold_SyndromeGalactosemiaWolman Diseasejunctional epidermolysis bullosa COL17A1Crouzon_diseasesickle cell anemiaMethemoglobinemia betabeta thalassemiaNiemann-Pick_Disease SMPD1AlbinismJacobsen SyndromeVon_Willebrand_DiseaseParkinson's DiseasePhenylketonuriaRetinoblastoma RB1Poland SyndromeAlzheimer's PSEN1Niemann-Pick_Disease NPC2Hemifacial_MicrosomiaAngelman syndromeMarfan_SyndromeBlooms SyndromeAlpha thalassemiaPolycystic_kidney_disease_-_PKD1Familial_Mediterranean_feverBenign_Familial_NeutropeniacanavanCanavan diseaseNeurofibromatosisNF1Job_Syndrome stat3Osteogenesis imperfectaPompe_Disease GAA18p depletionNiemann-Pick_Disease NPC1Maple syrup Urine diseaseSpinocerebellar_Ataxia_type-13 KCNC3Fatal_Familial_Insomnia_(FFI) PRNPAdenosine deaminase deficiencyDown SyndromeVelo-cardio-facial_syndromeNeurofibromatosisNF2Schindler DiseaseOcular_Albinism GPR143Amelogenesis_ImperfectaDuchenne Muscular DistrophyWiskott-Aldrich_syndromeDent’s DiseaseKennedy DiseaseHypohidrotic Ectodermal Dysplasia - EDASevere Combined ImmunodeficiencyLesch-Nyhan_SyndromeHaemophilia_BFragile XRett's_SyndromeAdrenoleukodystrophy ABCD1Hemophilia ASwyer SyndromeSex determining RegionKaryo6.png
About this image

Fall 2011

Lesch-Nyhan Syndrome - John Johnson

Marfan Syndrome - Suzanne Scott

Wiskott-Aldrich syndrome -Divya John

Kleefstra Syndrome - Morgan Schrader

Robinow Syndrome- Rosie Tilghman

Baller-Gerold Syndrome - Carolyn Falk

3-M Syndrome (CUL7) - Natalie Deans

Wolf-Hirschhorn syndrome - Christina Nassisi

Narcolepsy - Carson Seawell

Hemochromatosis- Karen Macz

1p36 deletion syndrome -Hinali Patel

Mowat-Wilson syndrome - Rocio Balbuena

Haemophilia B - Jimmy George

Stargardt Macular Degeneration - Jason Mathew

Waardenburg Syndrome Type 1 - Michael Spangler

Velo-cardio-facial syndrome - Claudiu Mioc

Crouzon disease - Ruby Guerrero

Polycystic kidney disease - PKD1 - Julie McGarr

Galactosemia - Mayra Star

Amelogenesis Imperfecta - Elias Malouf

Trisomy 18 - Temur Jamshedi

Hemifacial Microsomia - Katie Keller

Spring 2011

Benign Familial Neutropenia - Sam Morris

Ocular Albinism - Wayne Thompson

Williams Syndrome - Linda Morehead

Pompe Disease - Kelly White

Alpha Thalassemia - Johnny Tran

Tay Sach's Disease - Gurinder Ahuja

Crohn's disease - Lijo Oommen

Spinocerebellar Ataxia type-13 - Lida Nguyen

Epidermolysis bullosa - Ngoc Vu

Niemann-Pick Disease - Alan Yancey

Job Syndrome - Jeffery Johnson

Fatal Familial Insomnia (FFI) - Ashley Owens

Rett's Syndrome - Kasey Mueller

Adrenoleukodystrophy - Kelly Hodge

Von Willebrand Disease - Karen Macz

Prostate Cancer - Sarah Iqbal

Cri du chat - Osa Obasuyi

Retinoblastoma - Yusra Azhar

Familial Mediterranean fever - Alex Lee

Fall 2010

Alpha thalassemia - Anh Duong

junctional epidermolysis bullosa COL17A1 - Ashley Beard

Fanconi Syndrome - Arjunen Karpen

Marshall syndrome - Asif Sajjad

Adenosine deaminase deficiency - Drew Barnes

Jacobsen Syndrome - Matthew Garrett

Pendred syndrome- Nne Uko

Schindler Disease- Jennifer Kim

Parkinson's Disease LRRK2- Olivia Lopez '

Harlequin Icthyosis- Nathan Wall please pick a specific locus involved

Angelman syndrome 15q11-13- Moriah Newman

Blooms Syndrome- Audrey Thomas

Lactose Intolerance- Elayna Little

Severe Combined Immunodeficiency - Ivy Onyechi

Mobius Syndrome - Aqssa Chaudhry

Wolman Disease - Solomon Matovu

Neurofibromatosis- Vien Duong

Limb Girdle Muscular Dystrophy 2B- John Toffey

Swyer Syndrome- Tuan Do

Facioscapulohumeral Muscular Dystrophy (FSHD) - Franco Chevalier

Alzheimer's Disease PSEN1 gene - Rick Roller

Blue Baby Syndrome/Methemoglobinemia, beta-globin type - Jake Bond

Hypohidrotic Ectodermal Dysplasia - EDA - Abraham Bailey

Epidermolysis Bullosa Simplex, Ogna type - Natasha Craft

Klinefelters Disease - Kelsey Arnall

Phenylketonuria - Christy Battle

Ehler-Danlos -Samantha Moseley

Canavan disease- Lawrencia Ekah

Essential Tremor - Tookie Stalker

Van der Woude syndrome - Michelle Paterson

Spring 2010

Cystic Fibrosis -Debessa Deressa

Down Syndrome -Angella Perotti

Treacher-Collins Syndrome -Casey Wasserman

Hurler Syndrome -Katelynn Bell

Sex Determining Region: SRY -Sheldon Herbert

Gaucher Disease -Katherine Duneman

Osteogenesis Imperfecta -Long Phung

18p Depletion Syndrome -Stephen Wall

Duchenne Muscular Distrophy -Jason Lee

Beta Thalassemia -Marjan Dehghanian

Progeria -Krishna Patel

Albinism -Kate Ogonor

Sickle Cell Disease -Tayyebeh Abolghasemi

Huntington's Disease -Christopher Tran

Hemophilia A -Niki LaBella

Werner's Syndrome -Katie Froehbrodt

Fragile X -Michael Seymour

Canavan -Sonya Basra

Cri-du-chat Syndrome -Teri Crider

Kennedy Disease -Brittany Bruner

Maple Syrup Urine Disease -Paras Thacker

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