Genetics curriculum
2.4.2: Manage patients with genetic disorders
Attitudes:
• Sensitivity when discussing reproductive options
• Adopting a non-directive approach to genetic counselling
Basic Science
Structure and function of human cells, genes, DNA, RNA, proteins.Principles of (Classical) Mendelian and population genetics.
Non-Mendelian inheritance patterns: mitochondrial, parental disomy, repeating triplet sequences, polygenic inheritance.
Definitions of polymorphism, mutation, genetic segregation analysis, sex linked, multifactorial and polygenic inheritance.
Basic principles of individualised medicine and pharmacogenetics.
Dysmorphology principles, exam
Genetic testing techniques: PCR, FISH, gene sequencing.
Awareness of genetic databases, e.g. London dysmorphology, POSSUM, Online Mendelian Inheritance in Man (OMIM).
Implications to a family of a genetic diagnosis.
Consults with local genetic services.
Family history
Constructs and interprets a family pedigree.
Basic genetic counselling.
Recognition of common dysmorphic syndromes.
For the following common genetic diseases, the inheritance, phenotype(s), clinical presentation, natural history, complications and comorbidities principles of ongoing management and appropriate referral:
• trisomy 21
• Turner’s syndrome (45,X)
• cystic fibrosis (gene mutation)
• Marfan’s syndrome (gene mutation)
• Kleinefelter’s (47, XXY or more X's)
• 22q deletion
• Fragile X syndrome (triplet repeat)
Others from cardiology (trisomy 21, Turner’s, 22q11 deletion, Marfans syndrome as above)
Noonan’s
Williams
VACTERAL
CHARGE
muscular dystrophy
• Others
» pre-implantation diagnosis
» parental testing
» non-testing
» foetal gender determination
» foetal mutation testing.
See also neurocut syndromes in Neurology
See also disorders of metabolism
Attitudes:
• Sensitivity when discussing reproductive options
• Adopting a non-directive approach to genetic counselling
Basic Science
Structure and function of human cells, genes, DNA, RNA, proteins.Principles of (Classical) Mendelian and population genetics.
Non-Mendelian inheritance patterns: mitochondrial, parental disomy, repeating triplet sequences, polygenic inheritance.
Definitions of polymorphism, mutation, genetic segregation analysis, sex linked, multifactorial and polygenic inheritance.
Basic principles of individualised medicine and pharmacogenetics.
Dysmorphology principles, exam
Genetic testing techniques: PCR, FISH, gene sequencing.
Awareness of genetic databases, e.g. London dysmorphology, POSSUM, Online Mendelian Inheritance in Man (OMIM).
Implications to a family of a genetic diagnosis.
Consults with local genetic services.
Family history
Constructs and interprets a family pedigree.
Basic genetic counselling.
Recognition of common dysmorphic syndromes.
For the following common genetic diseases, the inheritance, phenotype(s), clinical presentation, natural history, complications and comorbidities principles of ongoing management and appropriate referral:
• trisomy 21
• Turner’s syndrome (45,X)
• cystic fibrosis (gene mutation)
• Marfan’s syndrome (gene mutation)
• Kleinefelter’s (47, XXY or more X's)
• 22q deletion
• Fragile X syndrome (triplet repeat)
Others from cardiology (trisomy 21, Turner’s, 22q11 deletion, Marfans syndrome as above)
Noonan’s
Williams
VACTERAL
CHARGE
muscular dystrophy
• Others
» pre-implantation diagnosis
» parental testing
» non-testing
» foetal gender determination
» foetal mutation testing.
See also neurocut syndromes in Neurology
See also disorders of metabolism