Genetic and Metabolic Medicine

71 written of 71 topics · 34 curriculum entries

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Conditions

Tier 1comprehensive depth
Autosomal dominant polycystic kidney disease3 examCystic fibrosisDown syndrome
Familial cancer syndromes
🔒 BRCA1 and 23🔒 familial adenomatous polyposis🔒 hereditary non-polyposis colorectal cancer
Haemochromatosis🔒2 exam
Inherited cardiac diseases
🔒 Brugada syndrome🔒 long QT syndrome
Inherited dementia syndromes, such as Huntington disease🔒Klinefelter syndrome🔒Marfan syndrome🔒6 exam
Muscular dystrophies
🔒 Becker muscular dystrophy🔒 Duchenne muscular dystrophy🔒 myotonic dystrophy21
Neurofibromatosis type 1 (NF1)🔒Noonan syndrome (NS)🔒Turner syndrome🔒
Tier 2understand these
Fabry disease🔒
Genetic neurocutaneous syndromes
🔒 Sturge–Weber syndrome🔒 tuberous sclerosis1
Hereditary motor and sensory neuropathy🔒3 exam
Inherited neurological disorders
🔒 hereditary spastic paresis🔒 spinocerebellar ataxia
Metabolic causes of rhabdomyolysis
🔒 CPT2 deficiency🔒 McArdle disease
Urea cycle disorders, such as ornithine transcarbamylase (OTC) deficiency🔒1 examBasic principles of pharmacogenetics and individualised medicine🔒Definitions of polymorphism and mutation🔒Genetic testing techniques, such as polymerase chain reaction (PCR), Sanger gene sequencing, chromosomal microarray, and exome and genome sequencing🔒1 exam
Inheritance
🔒 imprinting🔒 Mendelian🔒 mitochondrial🔒 multifactorial🔒 parental disomy🔒 polygenic🔒 sex-linked🔒 trinucleotide repeat sequences
Principles of major cancer genetics🔒Process of defining pathogenicity of mutations🔒Structure and function of human cells, genes, DNA, RNA, and proteins🔒Chromosome microarray (CMA)🔒
Commonly performed genetic testing (explain results only)
🔒 attenuated phenotype🔒 cystic fibrosis mutation testing🔒 reduced penetrance🔒 variants of uncertain significance (VOUS)
Conventional karyotype🔒Single gene testing, such as for cystic fibrosis, myotonic dystrophy, and spinocerebellar ataxia🔒1 examConstructing and interpreting genograms, particularly in relation to determining mode of inheritance🔒
Indications for appropriate referral to clinical genetics services
🔒 management of metabolic disorders🔒 preimplantation genetic diagnosis🔒 referral for prenatal testing🔒 carrier testing🔒 diagnosis of genetic syndromes
Legal and ethical principles of genetic testing
🔒 ethical barriers to testing minors for adult onset conditions🔒 ethics consultation🔒 familial implications of a genetic diagnosis, including discussion of autosomal recessive, autosomal dominant, and X-linked inheritance🔒 need for and process of obtaining written consent🔒 predictive testing processes
Patient and family counselling regarding findings of variants of uncertain significance (VOUS) and incidental findings in genetic testing
🔒 need for family studies🔒 possibility of functional studies🔒 absence of prognostic information