Introduction (1) Flashcards
Human genetics
The science of variation and heredity in humans
Medical genetics
The subset of human genetic variation that is important in medicine and medical research
Molecular genetics
The study of the structure and function of individual genes
Clinical genetics
The application of genetics to diagnosis and patient care in individuals and families
Clinical genetic referrals in children
Birth anomalies, dysmorphic features, learning difficulties
Clinical genetic referrals in adults
Diagnosis, predictive testing, carrier testing, family history (cancer), fetal loss/recurrent miscarriages
Clinical genetic referrals in pregnancy
Known genetic disorder, abnormality detected on screening
Genetic counselling
Understand the nature of a genetic disorder, nature of its transmission and the options open to them in management and family planning
Getfitnib
First selective inhibitor of epidermal growth factor receptor (EGFR/HER1) tyrosine kinase domain - over expressed in carcinomas (non-small cell lung cancer)
Non genetic tests for genetic disorders
- Blood tests (enzyme assays/haematology)
- X-rays (skeletal dysplasia)
Genetic tests for genetic disorders
- Genomic architecture (cytogenetics/array-based techniques)
- Gene faults (sequencing/OLA assays/MLPA tests)
Pharmacogenomics
Analysing entire genomes, across groups of individuals, to identify the genetic factors influencing responses to a drug
Pharmacogenetics
Studying an individual’s genetic make up in order to predict responses to a drug and guide prescription
What is Glevec used to treat?
CML - targets novel fusion protein, product of translocation (somatic)
RP65 is targeted at
Germline faults
