Southampton Academy of Research

Dr Katherine Lachlan is a Consultant Clinical Geneticist at University Hospital Southampton and holder of a Research Leaders Programme (RLP) award.

Her main research interest is PTEN hamartoma tumour syndrome (PHTS), a rare genetic condition that greatly increases people’s risk of developing tumours.

Discovering more about the condition

Katherine first became interested in PHTS as a registrar, when she did her first research project on it. People with PHTS are prone to tumours and blood vessel abnormalities. They can also have learning difficulties and autism, but these symptoms can vary from person to person.

She is using an online questionnaire to assess the day-to-day needs of people with PHTS, from a four-year-old through to an adult. She’s aiming to find out what effects the condition has on their quality of life, and whether they have any cognitive issues such as learning difficulties.

Whereas many standard psychological tests are very broad and take hours to complete, this questionnaire is specific to the condition and only takes up to half an hour to fill in. In the long-term, she’s hoping it might be able to be used to test new treatments, when they become available, for people with PHTS with learning difficulties or other cognitive issues.

“To see if a treatment works, you need to have something that you can monitor,” she explains. “And you can do that with questions like ‘does a tumour grow?’ or ‘does a blood vessel overgrowth shrink?’, but if somebody has issues with the way that they are developing, or other cognitive issues, it’s much harder to monitor that.”

She is using video assessments of eye-tracking movements, as well as psychological and behavioural assessments to understand more about PHTS. She’s also looking at whether existing medicines can be repurposed to treat the condition. Her research forms part of a collaboration with Dr Tom Frazier at John Carroll University in Ohio.

Making a difference to patients with rare diseases

Katherine is medical advisor for the PTEN UK and Ireland Patient Group charity, and recently joined them at an event at the House of Commons for Rare Disease Day.

While PHTS is extremely rare and only affects a few hundred people in the UK, Katherine intends to use the skills and experience she gains from her RLP award to research other genetic conditions.

“I hope to be able to apply the experience I am gaining to do similar things for other rare diseases,” she says.

She hopes her RLP award will give her the time she needs to focus on funding applications for future research. Her research, she says, could make a big difference to the lives of her patients.

“For the patients that I look after,” she explains, “just knowing that there’s research happening into their rare condition gives them some hope for the future.”