Genetic Disorders

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Genetic Disorders
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Progeria

• This genetic disorder is as rare as it is severe.
  The classic form of the disease, called
  Hutchinson-Gilford Progeria, causes accelerated
  aging.?The disease is caused by a mutation in the
  LMNA gene, a protein that provides support to the
  cell nucleus. Other symptoms of progeria include
  rigid (sclerotic) skin, full body baldness
  (alopecia), bone abnormalities, growth
  impairment, and a characteristic sculptured nasal
  tip.

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Epidermodysplasia verruciformis

• Epidermodysplasia verruciformis is an extremely
  rare disorder that makes people prone to
  widespread human papillomavirus (HPV) infection.
  This infection causes scaly macules and papules
  (cutaneous squamous cell carcinomas) to grow on
  the hands, feet, and even face. Also called
  Lewandowsky-Lutz dysplasia, there is no known
  cure, though treatments to scale back the growths
  are possible.

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Hypertrichosis

• is also calleHypertrichosisd werewolf syndrome
  or Ambras syndrome, and it affects as few as one
  in a billion people and in fact, only 50 cases
  have been documented since the Middle Ages.
  Studies have implicated it to a rearrangement of
  chromosome 8. It happens due to a disruption of
  the crosstalk between the epidermis and the
  dermis as hair follicles form in the 3-month
  fetus at the eyebrows and down to the toes.

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Uner Tan Syndrome

• Uner Tan syndrome is a somewhat controversial
  condition, whose most obvious property is that
  people who suffer from it walk on all fours.
  These individuals walk with a quadrupedal
  locomotion, use primitive speech, and have a
  congenital brain impairment.

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Severe Combined Immunodeficiency Disorder

• Severe Combined Immunodeficiency Disorder (SCID)
  - the disorder is caused by a number of genes,
  including those that cause defects in both T and
  B cell responses which has a downstream negative
  effect on the production of lymphocytes (a type
  of white blood cell). SCID is also thought to
  arise due to the lack of adenosine deaminase
  (ADA). Interestingly, SCID was the first human
  illness treated by human gene therapy in 1990,
  and is increasingly being used to treat children.

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Marfan Syndrome

• Is a disorder of the connective tissues, and it
  appears in about one in every 10,000 to 20,000
  births. Interestingly, myopia, is a common form
  of the disease, but it is more renowned for the
  way it causes bones to overgrow and create loose
  joints.

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Ectrodactyly

• Ectrodactyly - Also known as lobster claw hand,
  individuals with this disorder have a cleft where
  the middle finger or toe should be. Genetically
  speaking, it is caused by several factors,
  including deletions, translocations, and
  inversions in chromosome 7. Surgical procedures
  can correct some of these malformations.

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Proteus Syndrome

• Proteus Syndrome - In conjunction with
  neurofibromatosis type I, this is the disease
  that likely afflicted Joseph Merrick, the
  so-called Elephant Man. It is a condition in
  which bones, skin, and other tissues are
  overgrown. It occurs in less than one in one
  million people. The disorder results from a
  mutation in the AKT1 gene (which regulates cell
  growth), causing mosaicism as cells grow and
  divide, some cells exhibit the mutation while
  others do not. The resulting mixture of normal
  and abnormal cells is what causes the overgrowth.

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Lesch-Nyhan Syndrome

• Lesch-Nyhan Syndrome - LNS is a genetic disorder
  that affects one in every 380,000 births, nearly
  all of them boys. It results in an overproduction
  of uric acid, a waste product of normal chemical
  processes that is found in blood and urine. But
  individuals with Lesch-Nyhan release excess uric
  acid through their blood which builds up under
  the skin causing gouty arthritis. It can also
  cause kidney and bladder stones.

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Extra Credit Opportunity

• Need extra credit in Science?
• Opportunity is for students who have ALL OTHER
  assignments completed cannot have any missing
  assignments
• Choose one of the genetic disorders shown in this
  presentation or one of the disorders shown on the
  next slide and complete further research.

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Additional Genetic Disorders

• Angelman Syndrome/ Prader-Willi Syndrome
• Celiac Disease (Celiac Sprue)
• Cri du chat Syndrome (Cats Cry Syndrome,
  Monosomy 5p)
• Down Syndrome (Trisomy 21)
• Duchenne Becker Muscular Dystrophy
• Fragile X Syndrome

• Klinefelter Syndrome (XXY Syndrome)
• Maple Syrup Urine Disease
• Phenylketonuria (PKU)
• Sickle Cell Anemia (Sickle Cell Disease)
• Tay-Sachs Disease
• Triple-X Syndrome (Trisomy X)
• Turners Syndrome
• XYY Syndrome

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Rubric for Grading

• Check the class website to access a rubric for
  scoring this extra credit presentation.