Julia Dorin

http://www.nutshell-videos.ed.ac.uk/julia-dorin-defensins-our-natural-antibiotics/

My research focus is on host defence peptides. It has become clear to me that the dysregulation of innate immunity processes can lead to the destructive inflammation central to many (all) human diseases. Currently I am working on a multigene family of antimicrobial peptides called β-defensins which are astonishingly potent against yeast, bacteria and viruses and recognised as major players in innate immunity and yet deletion of these genes results in novel and exciting phenotypes. They are expressed at mucosal surfaces when induced but are highly expressed normally in male and female reproductive tract. I have shown that these molecules are both important in protection from infection and in immune modulation in vitro and in vivo. I have recently developed single gene, clade specific and whole locus deletions of these genes to reveal their full in vivo functional repertoire. I have recently published (Zhou et al 2013 (over 1,000 downloads in the first 2 weeks of publication) the profound male infertility phenotype we observe in mice when a subset of defensin genes are deleted and reveal a novel function of these genes in sperm maturation and control of calcium influx into sperm cells. This cluster of β-defensins in human (but not in mouse) is highly copy number variable (varies between 1 and 16 in human populations). The mutant derived sperm are precociously activated and show microtubule disruption and lack of motility. Deletion of the whole 31 gene locus is revealing a diverse series of inflammatory phenotypes and I am investigating their relevance to human disease.

• 1986-1989 CF Trust UK funded postdoctoral with Prof. Veronica van Heyningen. MRC HGU Edinburgh
• 1989-1992 CF Trust UK funded postdoctoral with Prof. David Porteous MRC HGU Edinburgh
• 1992-1995 Caledonian Fellowship Royal Society of Edinburgh MRC HGU Edinburgh
• 1995-2011 MRC Senior scientist (band 2) MRC Human Genetics Unit
• 2011-2015: Edinburgh University,: College of Medicine and Veterinary Science IGMM, Edinburgh Uni, MRC HGU Western General Hospital EH4 2XU
• 2015-Professor of Genetics of Host Defence MRC CIR

• Hours of work 1999-2001: 3 days per week
• 2001-2002: 4 days per week
• 2002-2006: 3.5 days per week
• 2006-2012: 4.5 days per week.
• March 2012-present: fulltime
• Four periods of maternity leave.