MMED2934 Human Molecular Genetics Assessment

Genetic Disease

You have been sent an email with the genetic disease which you will be researching for your report.

Your report should discuss, with reference to this genetic disease, areas which are covered in the topic. These should include:

• the phenotype and incidence of the disease,
• the chromosomal location and structure of the gene responsible for the disease,
• the expression pattern of the gene responsible,
• the mode of inheritance and types of mutations involved,
• how the function of the gene(s) fits with the observed phenotype and the mode of inheritance, and
• current treatment or therapies available.

Your report should contain the above information at a minimum.

In addition, there may be other areas that are relevant to the disease you’ve been assigned, for example:

• the epigenetic regulation of the gene,
• recent discoveries related to the disease or the mutational mechanism,
• potential future treatments or clinical trials,
• the significance of population genetics,
• ethical issues relating to pre-natal diagnoses or therapies,
• genome-wide studies, and
• any other information of relevance to the disease.

Please refer to the marking rubric for further information regarding the requirements and assessment of the report.