Lachlan, Dr Katherine



Clinical genetics

Training and education

  • MBChB including pre-medical year - Manchester University, UK, 1998 

    (honours in medicine, psychiatry and public health)

  • MRCPCH (member of the Royal College of Paediatrics and Child Health) - UK, 2001
  • CCT (certificate of completion of training) in clinical genetics - 2006
  • FRCP (fellow of the Royal College of Physicians) - UK, 2014
  • PGCert leadership - Southampton Solent University, 2016


Dr Lachlan became a consultant in clinical genetics in 2007, having completed her specialist registrar training in the genetics department here in Southampton. She's been clinical lead for the department since 2014.

Dr Lachlan covers the Portsmouth area general genetics clinic. She also specialises in the genetic diagnosis of people with congenital malformations, learning difficulties and disorders of sexual development, and in the clinical interpretation and significance of genetic test results.

She is a member of the NHS England clinical reference group for clinical genetics.


As a registrar, Dr Lachlan focused her research on families with Bannayan-Riley-Ruvalcaba syndrome or Cowden syndrome, conditions that can be caused by alterations in the PTEN gene.

Dr Lachlan has published widely in the area of rare disease genetics. Her publications include:

  • Detailed clinical and molecular study of 20 females with Xq deletions with special reference to menstruation and fertility. Mercer CL, Lachlan K, Karcanias A, Affara N, Huang S, Jacobs PA, Thomas NS. Eur J Med Genet. 2013 Jan;56(1):1-6
  • PTEN mutations as a cause of constitutive insulin sensitivity and obesity. Pal A, Barber TM, Van de Bunt M, Rudge SA, Zhang Q, Lachlan KL, Cooper NS, Linden H, Levy JC, Wakelam MJ, Walker L, Karpe F, Gloyn AL. N Engl J Med. 2012 Sep 13;367(11):1002-11.
  • Lachlan KL, Lucassen AM, Bunyan DJ, Temple IK. Cowden Syndrome and Bannayan-Riley-Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: a clinical study of 42 individuals with PTEN mutations. J Med Genet. 2007 44: 579-585


You can contact Dr Lachlan by emailing the genetics team or calling 023 8120 6170.