BIM202 Medical Genetics Task 2 Assignment

BIM202 Medical Genetics Task 2 Assignment

Name of the Medical Genetic Disorder

Author name/s (word count)

Present your graphical abstract at the beginning of your assignment.

This should be the only image used in the assignment and is not required to be referred to in your text (the graphical links to your subject matter should reflect a summary of the points that you discuss throughout your assignment).

You may present the image in either a landscape or portrait format. If using landscape use a section break and change the orientation to Landscape.

CLINICAL MANIFESTATIONS

You should begin by introducing the clinical manifestations of the genetic disorder you have selected. Include information such as:

the symptoms,

age of onset,

the epidemiology,

and if applicable the discovery (who and when first described the condition).

This section should make up approximately one quarter of your assignment.

MOLECULAR MECHANISMS

This section should be the main focus of your assignment and should provide information such as:

the specific gene/s involved and the associated genetic changes (e.g. mutation)

the molecular regulatory components associated with the disorderthis may include the interactions between DNA, RNA, proteins

their biosynthesis

and the regulation of these interactions

changes in how gene expression is regulated

the inheritance pattern.

This section should make up approximately one half of your assignment.

APPLICATIONS OF MOLECULAR GENETICS TO MEDICAL PRACTICE

This section should provide a brief overview of the methods used to diagnose and treat the disorder. Therapies may include (please note that not all of these may be applicable to the disorder that you have chosen):

molecular based therapies

protein/enzyme/vitamin replacement

drug treatment

tissue removal/transplantation

This section should make up approximately one quarter of your assignment.

DECLARATION OF GENERATIVE AI AND AI-ASSISTED TECHNOLOGIES IN THE WRITING PROCESS

Authors must disclose the use of generative AI and AI-assisted technologies in the writing process by adding a statement at the end of their manuscript, before the References list. The statement should be placed in a new section entitled 'Declaration of AI and AI-assisted technologies in the writing process'.

This declaration does not apply to the use of basic tools for checking grammar, spelling, references etc. If there is nothing to disclose, there is no need to add a statement.

Statement: During the preparation of this work the author(s) used [NAME TOOL / SERVICE] in order to [REASON]. Specifically I used ##### for the purpose of ****. After using this tool/service, the author(s) reviewed and edited the content as needed and take(s) full responsibility for the content.

I/We have complied with UniSC academic integrity procedures and have not copied or paraphrased the text from any generative AI and AI-assisted technologies.

If there is nothing to disclose, there is no need to add a statement.

REFERENCES

As this is a review of scientific literature you must reference all of the sources of information that you have used in your assignment (including the graphical abstract).

The in-text references and reference list must be in the citation format of the APA style of referencing specified by the special edition Molecular Insights into Monogenic Disorders based on the formatting employed by the journal American Journal of Medical Genetics. Please refer to the Task 2 instructions for further details.