bioinformatics Flashcards
what is a potential disadvantage of screening?
it could increase risk but does not necessarily mean they will go on to get disease
what are false positives known as?
artefacts - can occur in DTC genetic testing - can also be false negatives
what should you do if patient meets criteria?
they should be referred regardless of DTC genetic test results
how rare are rare diseases?
affect < 1 in 2000 people in EU but altogether are rare. There are more than 7000 rare diseases
what is the epidemiology of rare diseases?
75% of rare diseases affect children - 3.5 million people in the UK are affected - 7% of population
what is the genetic component on rare diseases?
80% have genetic components
what is OMIM?
online mendelian inheritance in man - can see clinical synopsis and summary of genetics - can search from the gene mutation or the syndrome
what does prognosis incorporate?
clinical features, rate of progression and life expectancy
what does management incorporate?
likelihood of cure, management of manifestations and further lifestyles factors
what does causation incorporate?
genetics - genetic testing, family predictions and pregnancy options
how can you answer questions for families?
a gene review
what mode of inheritance of cockayne syndrome?
autosomal recessive
what is cockayne syndrome?
rare genetic premature ageing condition with progressive degeneration in hearing, eyesight and ability to walk and talk. It is a genetic syndrome with the gene in the nucleus that shows cachetic dwarfism, abnormally long limbs, photosensitivity, thin, dry hair and sensorineural hearing loss
what is the primary symptom of cockayne?
abnormal and slow growth in first few years of life
what is the genetic basis of cockayne?
homozygous or heterozygous compound mutation in gene encoding group 8 excision repair cross complementing protein - eliminated range of structural DNA
