Topic - Hemophilia A
Topic - Hemophilia A
Introduction (10%)
The introduction should consist of two parts, a short referral for a theoretical patient that includes the patient characteristics and the diagnostic results used to justify the preliminary diagnosis and a suggested genetic screening strategy.
Disorder specific content (30%)
This section should cover three areas Pathogenesis, Aetiology and Epidemiology. You should aim to include a range of information, from appropriate sources, and your essay should include critical analysis of this material.
Pathogenesis should at minimum describe the progression of the disorder and potential outcomes for the affected individual.
Aetiology should include mode or modes of inheritance. Also specific information about the function of the effected gene product.
Epidemiology should include pertinent information on the prevalence/incidence, distribution and risk factors for the disorder.
Variant specific content (30%)
Marking of this section will be based on the appropriate use of scientific literature and databases, and bioinformatics tools. The use of each tool and databases must be evidenced, this can be through the use of figures and/or descriptive text covering the function and use of the tool. The synthesis of this information and its use to justify a recommendation that the variant be classified as pathogenic, likely pathogenic, uncertain significance, likely benign or benign using the basic principles set down in the 2015 consensus recommendation of the American College of Medical Genetics and Genomics for the interpretation of sequence variants (Richards et al. 2015) will also be assessed. The composition of this section will vary depending on the genetic variant under investigation.
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 17(5):405-24.
Recommendations and conclusions (20%)
Recommendations for the clinical management of the disorder, including any mutation specific recommendations. Discussion of future directions in research, treatment and diagnosis that would improve patient outcomes. A summary of the topic and any conclusions.
Referencing
Appropriate texts/reviews /papers sourced for the topic
Harvard referencing style
Include all references with a bibliography
Introduction
Patient referral to genetic services, including patient characteristics and the diagnostic results used to justify the referral.
Testing strategy, including name(s) of genes to be tested
Disorder Specific Content
Pathogenesis, including progression of the disorder and potential outcomes for the affected individual.
Aetiology, including mode or modes of inheritance.
Epidemiology.
Variant Specific Content
Appropriate use of literature, databases and bioinformatics tools.
Synthesis of information and justification of chosen pathogenicity level
Recommendation & Summary
Clinical management
Future directions in research, treatment and diagnosis.
Variant Details - Hemophilia A
rs Number - rs137852428
cDNA Position - NM_000132.4(F8):c.1834C>T
Protein Position - p.Arg612Cys
Word count max 2,500 words