Clinical features
• Outline disease presentation • Outline prognosis with and without treatment • State available treatments. • Comment on information specifically relevant to the NZ population (e.g. differing prevalence in Maori or Polynesians or environmental effects e.g. UV)
Expected word count for the “Clinical features” section is 150-250. It could be less but maximum is 250 words.
Genes involved
• What gene(s) are involved? (Note: If there are multiple loci/genes involved, concentrate on one most common one but list some examples.) • Briefly discuss whether there is locus and/or allelic heterogeneity. You should illustrate your understanding of heterogeneity and relate it to your specific disorder. • State which inheritance pattern the disease follows, and whether heterozygous individuals are affected. • Describe the type(s) of mutations associated with the disorder.
Expected word count for the “Genes involved” section is 100-200. It could be less but maximum is 200 words.
Genetic diagnosis and testing
• Outline how the disorder is diagnosed. The focus should be on genetic diagnosis but state other methods of disease diagnosis. • Comment on whether prenatal diagnosis, newborn screening, carrier testing or mutation testing is available and whether they are widely used? • Outline the effect of diagnosis on family members. • Briefly discuss 2-3 advantages of genetic testing of asymptomatic individuals. • Briefly explain if a specific genotype is predictive of the disease phenotype. Expected word count for the “Genetic diagnosis” section is 200-250. It could be less but maximum is 250 words.
Research (Note: This heading has two subheadings)
Current research:
Write a summary of current research into your disorder which might affect affect future changes e.g. gene therapy, prenatal diagnosis, carrier detection, are there treatments available overseas (or in trials) not yet available in NZ?
Expected word count for the “Current Research” sub section is 120-175. It could be less but maximum is 175 words.
Research paper:
In this section include a paragraph summarising a recent genetics primary research paper that is not a review (published in this or last year, preferably this year). This paragraph should summarise the aim of the study, the methods used, the main findings, and the impact this might have on the future understanding or treatment of the disorder.
Expected word count for the “Research paper” sub section is 120-175. It could be less but maximum is 175 words.
At the end of the report you much include a bibliography and a statement of how i used ai in my work