Pharmacogenomics – PHA478

Pharmacogenomics – PHA478
2019 plan level 7

Course is linked to PLOs: K1 and S2
Competency domain/subdomain PLO Assessment activity(ies) Attachment
1.1.1, 1.1.2, 1.1.3
3.1.4, 3.1.5, 3.1.6, 3.1.7, and 3.1.8 K1
S2 Student-developed vignette Details of the vignette and grading rubric

Description of assignment
Student-developed vignette
Course Assignment = 20% of course grade
Rare disease of any of the following:
1. Any rare disease depending on personal experience/preference
2. Aarskog Syndrome
3. Abetalipoproteinemia
4. Ablepharon-Macrostomia Syndrome
5. Acanthocheilonemiasis
6. Aceruloplasminemia
7. Achalasia
8. Babesiosis
9. Balantidiasis
10. Baller-Gerold Syndrome
11. Balo Disease
12. Bannayan-Riley-Ruvalcaba Syndrome
13. C Syndrome
14. C3 Glomerulopathy: Dense Deposit Disease and C3 Glomerulonephritis
15. CADASIL
16. Campomelic Syndrome
17. Dandy Walker Malformation
18. Danon Disease
19. De Barsy Syndrome
20. De Sanctis Cacchione Syndrome
21. Degos Disease
22. Eales Disease
23. Ectodermal Dysplasias
24. Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate
25. Ehlers Danlos Syndromes
26. Eales Disease
27. Ectodermal Dysplasias
28. Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate
29. Ehlers Danlos Syndromes
30. X linked Lymphoproliferative Syndrome
31. X-Linked Adrenoleukodystrophy
32. X-Linked Myopathy with Excessive Autophagy
33. X-Linked Myotubular Myopathy
34. X-linked Opitz G/BBB Syndrome
35. X-Linked Protoporphyria
36. X-linked Retinoschisis
37. Xeroderma Pigmentosum
38. Yaws
39. Yellow Fever
40. Yellow Nail syndrome
41. Yunis Varon Syndrome
42. ZC4H2-Associated Rare Disorders (ZARD)
43. Zellweger Spectrum Disorders
44. Zollinger-Ellison Syndrome

You and your colleagues (totally not more than 4 students) will be responsible to prepare a 15-20 minute presentation about one of the rare diseases mentioned above and present to class. The presentation should include:
1. Synonyms of that rare disease (if any)
2. General introduction about the disease
3. Signs & Symptoms of the disease
4. Causes and genetic basis
5. Affected Populations
6. Related Disorders/differential diagnosis
7. Standard Therapies
8. Investigational Therapies (if any)
9. Supporting Organizations for that rare disease (if any)
10. References
Include a separate last page for the references. Your work needs to be referenced with textbooks, journals, guidelines, the scholarly Internet, etc. Include your references at the point where the information is pertinent. This needs to be ACCURATE and in the right format. A total of at least seven references are required.
After the presentation, group members will be asked questions about their condition by the course instructor and their peers which will contribute towards their final assignment grade.
This assignment report and presentation is due on December 5, 2022.

Evaluation rubric-student developed vignette
Criterion Score (Ranging from 0 to 3)
Synonyms of that rare disease are mentioned
General introduction regarding the disease and its classification and epidemiology is clearly mentioned
Main signs and symptoms are illistrated
Causes and/or genetic basis is clarified and supported by images
Affected populations are clarified
Similar diseases/differential diagnosis are mentioned
Standard therapy and investigational therapy (if any) are mentioned
Supporting Organizations for that rare disease (if any) are mentioned
References are properly mentioned

The Presentation was delivered in a clear manner and in a logical and easily understood sequence using appropriate visual aids
Total /30

Faculty Name: Dr Yassin
Faculty signature:
Date: