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List of Genetic Disorders


									                            List of Genetic Disorders
1.    Achromatopsia (inability to see color)
2.    Adrenal Hypoplasia Congenita (reduction in adrenal gland function)
3.    Adrenoleukodystrophy (progressive brain damage)
4.    Aicardi Syndrome (partial or complete absence of a key structure in brain)
5.    Albinism/Hypopigmentation (no melanin pigment in eyes, skin and hair)
6.    Alexander Disease (neurodegenerative disease)
7.    Alpers' Disease (degenerative disease of the central nervous system)
8.    Alpha-1 Antitrypsin Deficiency (decreased A1AT activity in blood & lungs)
9.    Alzheimer's (degenerative disease starting with memory loss)
10.   Amblyopia (poor or indistinct vision)
11.   Angelman Syndrome (intellectual and developmental delay, seizures)
12.   Anencephaly (absence of a major portion of the brain, skull, and scalp)
13.   Aniridia (underdevelopment of the eye's iris)
14.   Anophthalmia (congenital absence of one or both eyes)
15.   Ataxia Telangiectasia (immunodeficiency disorder)
16.   Autism (brain development disorder)
17.   Bardet-Biedl Syndrome (obesity, pigmentary retinopathy, polydactyly, mental
         retardation, hypogonadism, and renal failure)
18.   Barth Syndrome (metabolism distortion, delayed motor skills, stamina deficiency,
         hypotonia, chronic fatigue, delayed growth)
19.   Batten Disease (fatal, autosomal recessive neurodegenerative disorder)
20.   Best's Disease (progressive vision loss)
21.   Bipolar Disorder (a category of mood disorders)
22.   Bloom Syndrome (breaks and rearrangements in the chromosomes)
23.   Branchio-Oto-Renal (BOR) Syndrome (autosomal disorder of kidneys, ears, and neck)
24.   Canavan Syndrome (progressive damage to nerve cells in the brain)
25.   Carnitine Deficiencies (metabolic disorders)
26.   Cerebral Palsy (physical disability in human development)
27.   Charcot-Marie-Tooth Disease (loss of muscle tissue and touch sensation)
28.   Cleft Lip/Cleft Palate (abnormal facial development during gestation)
29.   Coffin Lowry Syndrome (mental retardation and delayed development)
30.   Coloboma (hole in one of the structures of the eye)
31.   Color Blindness
32.   Congenital Heart Defects
33.   Congenital Hip Dysplasia (Dislocation)
34.   Connective Tissue Disorders
35.   Cooley's Anemia/ Thalassemia (formation of abnormal haemoglobin molecules)
36.   Corneal Dystrophy (non-inflammatory, bilateral opacity of cornea)
37.   Cornelia de Lange Syndrome (severe developmental anomalies)
38.   Cystic Fibrosis (progressive disability due to multisystem failure)
39.   Cystinosis (autosomal recessive disorder of the renal tubules)
40.   Developmental Disabilities
41.   Diabetes
42.   Down Syndrome (impairment of cognitive ability, physical growth & facial appearance)
43.   Duane Syndrome (inability of the eye to turn out)
44.   Edward’s Syndrome (Trisomy 18 - rocker bottom feet and death by 1 year old)
45.   Ehlers-Danlos Syndrome (defect in collagen synthesis)
46.   Epidermolysis Bullosa (extremely fragile skin & recurrent blister formation)
47.   Familial Dysautonomia (disorder of the autonomic nervous system)
48.   Familial Mediterranean Fever (inflammatory disorder)
49.   Fanconi Anemia (short stature, skeletal anomalies, bone marrow failure)
50.   Fibrodysplasia Ossificans Progressiva (disease of the connective tissue)
51.   Fragile X Syndrome (X-linked mental retardation)
52.   G6PD (Glucose-6-Phosphate Dehydrogenase) Deficiency Anemia
53.   Galactosemia (inefficient metabolism of the sugar galactose0
54.   Gaucher Disease (deficiency of the enzyme glucocerebrosidase)
55.   Gilbert's Syndrome (high levels of unconjugated bilirubin in bloodstream)
56.   Glaucoma (diseases of the optic nerve)
57.   Hemochromatosis (excessive absorption of dietary iron)
58.   Hemoglobin C Disease (abnormal hemoglobin)
59.   Hemophilia/Bleeding Disorders (inefficient control over blood clotting or coagulation)
60.   Hirschsprung's Disease (enlargement of the colon)
61.   Homocystinuria (disorder of the metabolism of the amino acid methionine)
62.   Huntington's Disease (abnormal body movements)
63.   Hurler Syndrome (deficiency of alpha-L iduronidase)
64.   Klinefelter Syndrome (small testicles and reduced fertility)
65.   Krabbe Disease (fatal degenerative disorder of nervous system)
66.   Leber Congenital Amaurosis (loss of vision)
67.   Leukodystrophies (progressive degeneration of the white matter of brain)
68.   Long Q-T Syndrome (heart problem)
69.   Macular Degeneration (loss of central vision)
70.   Marfan Syndrome (disorder of the connective tissue)
71.   Marshall-Smith Syndrome (unusual accelerated skeletal maturation)
72.   McCune-Albright Syndrome (disorder of bones, hormones & skin pigmentation)
73.   Menkes Disease (disorder that affects copper levels in the body)
74.   Metabolic Disorders
75.   Mitochondrial Disease
76.   Mucolipidoses
77.   Mucopolysaccharide Disorders
78.   Muscular Dystrophy (progressive muscle weakness)
79.   Neonatal Onset Multisystem Inflammatory Disease (uncontrolled inflammation in
          multiple parts of the body)
80.   Neurofibromatosis (grow of tumors in nerve cells - Schwann cells)
81.    Niemann-Pick Disease (disorder affecting lipid metabolism)
82.    Noonan Syndrome (heart malformation, short stature, learning problems)
83.    Optic Atrophy (loss of some or most of the fibers of the optic nerve)
84.    Osteogenesis Imperfecta (no protein - collagen, or the ability to make it)
85.    Patau’s Syndrome (Trisomy 13 - Similary to Edward’s Syndrome, death by 1)
86.    Peutz-Jeghers Syndrome (benign hamartomatous polyps in gastrointestinal tract)
87.    Phenylketonuria (PKU) (deficiency in enzyme phenylalanine hydroxylase)
88.    Polycystic Kidney Disease (multiple cysts in both kidneys)
89.    Pseudoxanthoma Elasticum (fragmentation and mineralization of elastic fibers in
90.    Progeria (accelerated aging)
91.    Ptosis (drooping upper eyelid or breasts)
92.    Rentinitis Pigmentosa
93.    Scheie Syndrome (absence or malfunctioning of lysosomal enzymes)
94.    Schizophrenia (impairments in the perception or expression of reality)
95.    Severe Combined Immunodeficiency (SCID) (crippling of adaptive immune system)
96.    Sickle Cell Anemia (abnormal, rigid, sickle shape of red blood cells)
97.    Skeletal Dysplasias (abnormal bone and cartilage development)
98.    Smith-Magenis Syndrome (developmental disorder)
99.    Spherocytosis (production of bi-concave disk shaped red blood cells)
100.      Spina Bifida (incompletely formed spinal cord)
101.      Spinocerebellar Ataxia (progressive in-coordination of gait)
102.      Stargardt Disease (Macular Degeneration) (progressive vision loss)
103.      Stickler Syndrome (disorders affecting connective tissue, mainly collagen)
104.      Tay-Sachs Disease (usually affects nervous tissue of the brain)
105.      Treacher Collins Syndrome (craniofacial deformities)
106.      Tuberous Sclerosis (causes benign tumors in various body parts)
107.      Turner's Syndrome (only one X chromosome in each cell of a female)
108.      Urea Cycle Disorder (deficiency of one of the enzymes in the urea cycle causing
          irreversible brain damage and/or death)
109.      Usher's Syndrome (deafness and a gradual vision loss)
110.      Velocardiofacial Syndrome (deletion of a small piece of chromosome 22)
111.      von Hippel-Lindau Disease (abnormal growth of tumors in body parts)
112.      Werner Syndrome (premature aging)
113.      Williams Syndrome ("elfin" facial appearance, with a low nasal bridge)
114.      Xeroderma Pigmentosum (deficient ability to repair damage caused by ultraviolet
          (UV) light)
115.      XXX Syndrome (an extra X chromosome in each cell of a female)
116.      XYY Syndrome (an extra Y chromosome in each cell of a male)
    Genetic Disorder Presentation Project
Step 1: Choose a group of 3 or 4 in your class period. - (At least one person in each group
      MUST have access to a computer and Microsoft PowerPoint.)
Step 2: Choose a genetic disorder. - (You must have your genetic disorder approved by
      the teacher. You may choose from the teacher’s list or research your own.)
Step 3: Research at least 3 sources. - (Reputable websites end in .edu, .gov, or .org.)
Step 4: Identify the following topics in your research:
      - Name of disorder (common and medical name).
      - Cause of disorder (brief and to the point – no one wants to read 2 or 3 paragraphs
      on a slide. )
      - Effect of the disorder on the individual.
      - Treatment if any. If none, state what research has been done about it.
      - Frequency it occurs in the general population (i.e. 1 out of 10,000).
      - Picture or diagram (which ever is appropriate) of the disorder – this does not have
      to be a picture of an individual with the disorder. A diagram/picture showing the
      presence of the disorder in a tissue, organ, or skeleton can also be used.
      - Chromosome map showing the chromosome number and the location of the
      disorder on that chromosome.
      - References must be mentioned.
Step 5: Assemble the PowerPoint. Follow these tips when creating a slideshow
      - Don’t use too many transitions or sound effects. They may become distracting.
      - Use “easy-to-read” fonts and simple language. Remember your audience is a
        classroom of fellow high school students, not doctors (yet).
      - Don’t write long paragraphs on a slide. Use keywords and short sentences.
      - Don’t read from the slide. You should use note cards or memorize your speech.
      - Go to this website for more tips on creating an excellent PowerPoint presentation:
Step 6: Save your PowerPoint presentation in several places (hard drive, “Turn-in-
      Assignment Folder” on the RHS network, flash drive, CD, etc.). Also, be sure that
      everyone in the group has a copy just in case. Save the project as
      [Lastname - Period] such as [Smith - 2nd].
Step 7: Create note cards for your verbal presentation that will accompany your
      slideshow. Each member must speak during the presentation; therefore, each
      member will need note cards. Note cards should not be a word-for-word speech
      and should not include unfamiliar language. Remember...keep it simple.
Step 8: Practice the presentation with a timer. Projects should be between 3-5 minutes. If
      your group does not practice, you run the risk of not meeting the time requirement.
Step 9: Dress up for your presentation.
      GENTLEMEN: Polo, shirt/tie. NO JEANS and NO T-SHIRTS!
      LADIES: Pants suit, dress/skirt, nice shoes. NO JEANS and NO T-SHIRTS!
      If you are not sure or have any issues, please see the teacher prior to the due date.
Step 10: Bring copy of presentation and note cards to class on the due date.

Absent group members will delay your group’s presentation until all members have
     returned to school. Absences will make this project VERY difficult, so try to be at
     school on your presentation day at all costs. Severe circumstances are the only
     acceptable circumstances for missing your assigned presentation day.

Your grade will be determined by the following criteria:
  25 points - Verbal Presentation Quality & Professionalism
  20 points - Slideshow Presentation Quality
  55 points - Information & Research
Some penalties include:
  -10 points for missing resources (per missing resource).
  -10 points for lack of professional attire (per member).
  -2 points for reading directly from the slideshow.
  -10 points for not meeting the time requirement (3-5 minutes).
  -10 points for a member not speaking during the presentation.


Name of Genetic Disorder: _______________________________

Approval Date: ________________                 Presentation Date: _______________

Group Members: ____________________________________
   (3 or 4)


Names: _________________________________________________________________
Date: ________________ Time Length: _______________ GRADE: _______________

                 Genetics Presentation Rubric

    Verbal Distractors (um, uh, pauses)    _______ of 5
    Eye Contact with Audience              _______ of 5
    High school level language             _______ of 5
    Time Requirement (3-5 mins.)           _______ of 10
    Lack of professional attire (-10)      _______
    Reading from slides (-2 )              _______
    Member does not speak (-10)            _______
                VERBAL TOTAL               _______ of 25

    Colorful/Attractive                    _______ of 5
    Speech matches slideshow info          _______ of 5
    Easy-to-Read Fonts                     _______ of 5
    Transitions/Sounds/Clipart             _______ of 5
    Too many transitions/sounds (-2)       _______
    Confusing, unorganized info (-5)       _______
           SLIDESHOW TOTAL                 _______ of 20

    Name (Common/Medical)                  _______ of 5
    Cause of Disorder                      _______ of 10
    Effect on Individual                   _______ of 10
    Treatment                              _______ of 10
    Frequency                              _______ of 5
    Picture/Diagram                        _______ of 5
    Chromosome Map                         _______ of 10
    Missing Resources [3 required] (-10)   _______
    Wikipedia (-10)                        _______
    No sources [PLAGIARISM]                _______
    INFORMATION TOTAL                      _______ of 55

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