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

CCC 700 6

Critical Care

Compendium

Chris is an Intensivist and ECMO specialist at the Alfred ICU in Melbourne. He is also the Innovation Lead for the Australian Centre for Health Innovation at Alfred Health and Clinical Adjunct Associate Professor at Monash University. He is a co-founder of the Australia and New Zealand Clinician Educator Network (ANZCEN) and is the Lead for the ANZCEN Clinician Educator Incubator programme. He is on the Board of Directors for the Intensive Care Foundation and is a First Part Examiner for the College of Intensive Care Medicine. He is an internationally recognised Clinician Educator with a passion for helping clinicians learn and for improving the clinical performance of individuals and collectives.

After finishing his medical degree at the University of Auckland, he continued post-graduate training in New Zealand as well as Australia’s Northern Territory, Perth and Melbourne. He has completed fellowship training in both intensive care medicine and emergency medicine, as well as post-graduate training in biochemistry, clinical toxicology, clinical epidemiology, and health professional education.

He is actively involved in in using translational simulation to improve patient care and the design of processes and systems at Alfred Health. He coordinates the Alfred ICU’s education and simulation programmes and runs the unit’s education website, INTENSIVE.  He created the ‘Critically Ill Airway’ course and teaches on numerous courses around the world. He is one of the founders of the FOAM movement (Free Open-Access Medical education) and is co-creator of litfl.com, the RAGE podcast, the Resuscitology course, and the SMACC conference.

His one great achievement is being the father of two amazing children.

On Twitter, he is @precordialthump.

| INTENSIVE | RAGE | Resuscitology | SMACC

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