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Genetic Disorder Project

Published on Nov 19, 2015

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PRESENTATION OUTLINE

GENETIC DISORDER

  • Prader-Willi
  • It is a complex disorder of the 15th chromosome

WHICH CHROMOSOME IS AFFECTED

  • The sex chromosome

WHAT IS THE CAUSE

  • Its caused by the loss of gene in a region of the 15th chromosome

WHAT IS THE CAUSE OF PRADER WILLI

  • Genes on 15th chromosome are missing

IS IT INHERITED OR A MUTATION

  • It is a mutation by a defect that that turns off

SIGNS/SYMPTOMS

  • Poor muscle tone
  • Failure to thrive
  • Distinct facial features
  • Lack of eye coordination

MOST COMMON SYMPTONS

  • Hyperphgia
  • Obesity

SPECIFIC POPULATION

  • No becuase there is only a 3% chance per year

LIFE EXPECTANCY

  • 18-49 years but some go over

HOW IS IT DIAGNOSED

  • It is made by a physician based on clinical symptom

PRENATAL TESTS

  • It is possible for pregnancies at risk

WHAT TO DO TO TREAT THE DISORDER

  • Improve strength and ablity
  • Improve height
  • Increase lean muscle mass
  • Increase bone mineral density

RESEARCH FOR FUTURE TREATMENTS

  • There is no future treatments so far

WEBSITE

  • Prader- Willi Syndrome Association

GROUP MEMBERS

  • Andrew
  • Bailey