Delving further into genetic causes of ulcerative colitis

IBD

21 Jun 2017


Describe the aim of this new project in 10 words.

To enable genetic based personalised treatment of families with IBD.

What have you discovered in this area so far?

Examining large numbers of patients, the international IBD consortium has identified over 200 genes that modestly increase the risk of developing IBD. This has revealed many potential causes of IBD but does not explain why in some families there are multiple members who develop severe forms of the disease.

What aspect of this research excites you the most?

I am excited by the possibility to provide tailored therapy for patients based on their genetics. The research may also lead to the discovery of novel pathways that may lead to more effective therapies for all patients with IBD in the future.

How long before your work impacts patient care?

The first stage of the project is developing software tools to allow for the genetic analysis of families that have multiple members affected by IBD. After this we will analyse several families to demonstrate its functionality and validate the findings. Finally we will incorporate the tool into genetics services. This process should be complete within 3 years.

What’s your Holy Grail – the one thing you’d like to achieve in your research career?

In my clinical practice I am often asked, “Why did I get inflammatory bowel disease and what is the best therapy for me?”  I would like to be able to answer that question using the findings from my research.

Who has inspired you in work or life?

I have been inspired by many people in my life and found many role models and inspiration in the larger scientific community. The brilliance and determination of Stephen Hawking in the face of adversity stands out as a truly inspiring individual.

What is your biggest research hurdle?

I think the biggest hurdle is identifying the right research questions to ask in order to make an impact in patients’ lives.

What interests help create work-life balance for you?

In addition to time spent with my family, I enjoy travelling around Australia and cycling.

If you could only keep three possessions, what would they be?

  • My family photo album (now digital) to keep those memories fresh.
  • My Tallit – a ceremonial scarf that was given to me at my Bar Mitzvah, and was also part of my wedding ceremony.
  • My copy of my PhD thesis – to remind me of the foundation of my research career, as well as some useful protocols.

Can you nominate a book that influenced you?

The Logic of Scientific Discovery by Karl Popper. It examines the fundamental principles of the scientific method, and I have found his thoughts on how to discover truth through testing hypotheses to apply aptly throughout my career in academic medicine.

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