Biology
Genetic Disease Presentations
You are to research and report on an assigned genetic disease. Your presentations should be planned to last no
more than 5 minutes. You will be evaluated for content, your oral presentation, your slides, and your
bibliography.
Content: Correct information, simplified and concise, new vocabulary explained.
Oral Presentation: Clear, well organized, enthusiastic delivery, demonstrate knowledge of the subject
presented, know and are able to explain all words and topics used, notes are fine to help you explain but you
should know your topic well enough that you do not have to read sentences. Points will be deducted if your oral
presentation is unclear or simply read.
Slides: Guides your report, helps with student note taking, bulleted, not text heavy (no complete
sentences…death by power point, remember 5x5), pictures to illustrate topic.
Bibliography: On last slide-not presented. Minimum of three sources, format open (suggest EasyBib citation
generator) (photos, diagrams & drawings must be credited), highly suggested resource is genome.gov, do not
forget your textbook(s).
Your report should include:
Name of disorder (any common names or other names should be included)
Mode of inheritance (X-linked, autosomal dominant or recessive, chromosomal nondisjunction, chromosome #,
etc.)
Description of disease or disorder (include age of onset)
Screening
Treatment (if any)
Groups most at risk (if any)
History
Any other comments
Possible disease list:
Hemophilia A
Phenylketonuria
Cystic fibrosis
Huntington’s disease
Sickle-cell disease
Duchenne Muscular
dystrophy
Thalassemia
Tay Sachs
Xeroderma Pigmentosa
Down’s syndrome
Turner’s syndrome
Klinefelter’s syndrome#
Cri-du-chat
Tyrosinase
Colorblindness
Polydactyly
Lesch-Nyhan syndrome
Neurofibromatosis
Galactosemia
Trisomy 13
Trisomy 18
Achondroplasia
Prader-Willi Syndrome
Progeria
Triple X Syndrome
Marfan Syndrome
Stickler Syndrome
Adrenoleukodystrophy
Langer-Giedion Syndrome
Familial hypercholesterolmia
Polycistic Kidney Disease