Genetics and Critical Illness
OVERVIEW
There is increasing awareness of genetic make up influencing one’s ability to respond in critical illness
SEPSIS
- it is now believed that genetic predisposition influences the risk of serious infection and outcome.
- thought to be related to single nucleotide polymorphisms (SNP)
- influence severity of injury by controlling induction of TNF, NF kappa B and toll receptors
- TT LNPEP rs XXX -> inherited mutation that is able to predict the SIRS response to bypass
- important genetic polymorphisms: IL-6, TNF alpha, CD14 receptor, protein C haplotypes
- it is now known that different people have differing MIC’s to various bacteria.
ACUTE LUNG INJURY
- genetic susceptibility to the development of ALI and ARDS
- important gene candidates and potential gene-environment interactions identified.
- Mannose binding lectin genes and surfactant protein B gene polymorphism
HEAD INJURY
- presence of a certain Apo Lipoprotein genes have an adverse outcome in head injury.
PHARMACOGENOMICS
- response to adverse effects of a drug are thought to have a genetic basis
VASCULAR DISEASE
- IHD and CVA have some genetic basis
Critical Care
Compendium
Chris is an Intensivist and ECMO specialist at The Alfred ICU, where he is Deputy Director (Education). He is a Clinical Adjunct Associate Professor at Monash University, the Lead for the Clinician Educator Incubator programme, and a CICM First Part Examiner.
He is an internationally recognised Clinician Educator with a passion for helping clinicians learn and for improving the clinical performance of individuals and collectives. He was one of the founders of the FOAM movement (Free Open-Access Medical education) has been recognised for his contributions to education with awards from ANZICS, ANZAHPE, and ACEM.
His one great achievement is being the father of three amazing children.
On Bluesky, he is @precordialthump.bsky.social and on the site that Elon has screwed up, he is @precordialthump.
| INTENSIVE | RAGE | Resuscitology | SMACC
