a presentation ( powerpoint ) 20 minutes worth talking presentation about Refsum’s
disease
please FOLLOW attached instructions and rubric
I need under each slide explantion of the slide.
let me know if you need any clarification
BCHM 551
VIDEO PRESENTATION GRADING RUBRIC
Criteria
Level of Achievement
CONTENT (70 points)
Advanced (90-100%)
Proficient (70-89%)
Developing (1-69%)
Not Present (0)
Scientific Knowledge
(60 points)
54 to 60 points
Student clearly demonstrates proper
understanding of molecular concepts.
Student adequately and accurately
expresses the relevant biochemistry of
the disease state.
42 to 53 points
Student somewhat demonstrates
proper understanding of molecular
concepts.
Student expresses relevant
biochemistry of disease state with a
few inaccuracies.
1 to 41 points
Student does not demonstrate
proper understanding of molecular
concepts.
Student does not express relevant
biochemistry of disease state.
0 point
No submission
Incorporating Scientific
Information/knowledge
in problem analysis
(30 Points)
18 to 20 points
Student is able to identify the molecular
defects in the disease.
Student is able to incorporate basic
molecular concepts in explaining disease
progression and features
14 to 17 points
Student is partially able to identify
the molecular defects in the disease.
Student is not able to incorporate
basic molecular concepts in
explaining disease progression and
features.
1 to 13 points
Student is unable to identify the
molecular defects in the disease.
Student is unable to incorporate
basic molecular concepts in
explaining disease progression and
features
0 point
No submission
Organization and
Communication of
Scientific Thought
(30 points)
14.4 to 16 points
Student logically and systematically
describes molecular pathways and
connections to disease state.
Student uses proper terminologies,
language tenses, structure, grammar and
referencing as instructed.
11 to 14 points
Student is to some extent logical and
systematic in describing molecular
pathways and connections to disease
state
Student somewhat uses proper
terminologies, language tenses,
structure, grammar and referencing
as instructed.
1 to 10 points
Student dose not logically and
systematically describe molecular
pathways and connections to
disease state
Student does not use proper
terminologies, language tenses,
structure, grammar and
referencing as instructed.
0 point
No submission
STRUCTURE (30 points)
Advanced (90-100%)
Proficient (70-89%)
Developing (1-69%)
Not Present (0)
Formatting,
Professionalism,
Referencing, Grammar
and Spellings
21 to 24 points
Correct spelling and grammar are used
throughout the essay. There are 0–2
errors in grammar or spelling that distract
the reader from the content.
Work is properly cited
16 to 20 points
There are 3–5 errors in grammar or
spelling that distract the reader from
the content.
Work is properly cited for the most
part
1 to 15 points
There are 6–10 errors in
grammar or spelling that
distract the reader from the
content.
Work is not properly cited
No submission
Total (120 points)
Instructor’s Comments:
BCHM 551
GROUP VIDEO PRESENTATION INSTRUCTIONS
You will be assigned a partner by your instructor at the beginning of the course, and together you
will complete this project. Your instructor will also assign your team (you and your partner) a
metabolic pathway about which you will prepare and deliver a detailed video presentation. You
will collaborate with your partner to examine the topic, design the presentation format, and
deliver the presentation.
You may choose to each give a portion of the presentation or choose one person to do the entire
presentation. If you choose to have one person do the entire presentation, the other team member
most show evidence of having made a significant contribution to the work as attested to by the
presenter.
You will be graded based on the following:
Accuracy of content;
Clear communication of concepts;
Organization;
Timeliness; and
Collaboration.
(Refer to the grading rubric for a breakdown of the point allocation.)
The video must be between 20-25 minutes long.
If you wish, you may use the powerpoint presentation tool (with the audio) and share the
file with me.
This assignment is due by 11:59 p.m. (ET) on Friday of Module/Week 8.
REFSUM`S DISEASE
BACKGROUND
R i an in conditi tha l of vision , sense,
( ) other w signs sympt (Ku , & D Jesus, 2020)
T result associat w disease i due to a condi call
(Ku , & D Jesus, 2020)
T ea symptom is usu vi very
.
V l and anosmia common almost R Disease
1
FREQUENCY OF REFSUM`S DISEAS
T p rat o R `s D is not but st cla
disease may be underdiagn (A al., 2017).
I the United ki (UK), prevalen of t Refsu `s D been
at 1/1, 000, 000 (A ., 2017).
R `s D has no discou ; and w
eq
T c is genera t t be uncommon
2
CAUSES OF REFSUM`S DISEASE
M th PHYH gene causes 90% R `s Di w
remain ca are due t mutat in the gene PEX7
(K , & D Jesus, 2020).
T a of a t of fat acid know as phytani
cont the signs an symptoms Refsum` .
T vi of peroxisomes include breakdown
acid results from t mutati t PHYH and
PEX7 a t lead t buil u t acid in t body
A phytanic i toxic to body but
not reveal exc of t acid imp vision smell
si and sympt of R `s D .
3
INHERITANCE OF REFSUM`S DISEASE
R `s D is in an recessive
T , o w rec c w
h carri a copy t mutated gene, , th
not and sympt of t conditi (R , &
S , 2016).
4
MANAGEMENT AND TREATMENT
D restrict is very it would hel to regulat t
p acid (R , & S , 2016).
T , restrict wil the cont of
, , at i
T a several support t co used c
acut situati t include crea , cardia
and ant - (R , & S , 2016).
I cases of severe h l , i
considered
5
REFERENCES
K , R., & D J , O. (2020). R D . S Pearl [I ]. R :
https://www.ncbi.nlm.nih.gov/books/NBK560618/
A , A., Z , A., B , T., D , M., D’E , F., & B , M. (2017). G
R . T EuroBiotech J , 1( 1), 89-91. R :
https://content.sciendo.com/downloadpdf/journals/ebtj/1/s1/article-p89.pdf
R , S. A., & S , V. S. (2016). R P . I M Retina D ( . 85-90).
S , C . R : https://link.springer.com/chapter/10.1007/978-3-319-20460-4_19
6
