1. From the solar system to the Milky Way Vivienne Parry v@vparry.co.uk

2. History of Medicine Ancient Egyptians Greeks & Romans The Golden Age 18 th Century Modern Medicine

3. Ancient methods of diagnosis Sacrifice Looking at the shape and position of a sheep’s liver Astronomy & Astrology If the patient was a Pisces, doctors were told to avoid cutting the feet

5. Ancient Greeks GODS AS HEALERS HIPPOCRATES 400 B.C

6. Galen 150 AD Galen A Greek in the Roman empire No dissection of human bodies Knowledge based on animals Often wrong Promoted the idea of humors Blood letting as a cure

7. Founder of modern human anatomy “De humani corporis fabrica” Printed descriptions and illustrations of human dissections Openly challenged Galen Andreas Vesalius 1514 - 1564

8. Teatro Anatomico, Padua

9. 16 th – 19 th Centuries Harvey, Fallopio, Colombo Anatomical knowledge Symptom observation but no understanding of cause Treatment of symptoms not cause Carving out of territory based on organs and body systems

11. Symptoms vs Causes Koch, Theory of Disease Bacteria - not evil spirits or miasmas - cause disease Cholera, Anthrax and TB

12. The beginning – 1897: Archibald Garrod obsessed with urine alkaptonuria The first to recognise inborn errors of metabolism Linked it with work of Mendel Ignored Identification of specific genes with specific disorders post Second World War – progress halted by eugenics movement

14. Symptoms Causes Genomic medicine Evolution of Medicine

15. Genome Environment Modified from Loscalzo et al Mol Sys Bio 20007;3:124

16. Genome Transcriptome Proteome Environment Inflammation Thrombosis Hemorrhage Fibrosis Immune response Apoptosis Necrosis Cell proliferation Abnormal organ function Disease with different phenotypes Modified from Loscalzo et al Mol Sys Bio 20007;3:124 Metabolome

18. Rare diseases Search for a diagnosis time consuming, expensive heartsink process Only 25% have molecular definition Where do you start looking? The same cause may have many different phenotypes No longer looking for single genes May be control and regulation that is the problem Whole Genome Sequencing

19. Today Birth of modern genetics Genomic healthcare Refining diagnosis from not just observation and biochemical tests Understanding basis of disease Predicting drug effects Developing new therapies