December 2011

Dr Suet-Ping Wong and Michelle

BHD Researcher Interview: Dr Suet-Ping Wong is a post-doctoral researcher working on non-viral gene therapy in Dr Richard Harbottle’s group at Imperial College London.

1. How did you get interested in BHD research?

My PhD was focused on developing non-viral vectors for application for liver disease. I showed that we could get sustained levels of expression by combining liver specific promoters with a regulatory element called a Scaffold Matrix Attachment Region (S/MAR) and that expression was maintained without genomic integration. We thought that this new class of vectors could readily be applied to other tissues. This lead to my work being funded by the Myrovlytis Trust where we are implementing what we’ve learnt in the development of S/MAR vectors to the generation and application of novel kidney specific vectors to treat BHD.

2. What are you currently working on?

I’m currently optimising and testing out new DNA-vectors in cultured cells and I’m working on developing new techniques to deliver these vectors to renal cells of BHD animal models. Our vector technology also allows us to label cells with bioluminescent markers so we can develop BHD xenograft models to test out new therapeutic strategies.

3. What would help current research (equipment, technique etc.)?

The IVIS Spectrum CT, which is a machine that would allow us to non-invasively measure light emitted from our genetically labelled xenografts and provide us with a 3D images of the implanted tumour masses.

4. Do you have a favourite research paper?

For this project I am going to choose the research paper published by Laura Schmidt’s group (doi:10.1016/S1535-6108(02)00104-6) that first showed BHD tumourigenesis is caused by a mutation in the FLCN gene. This paper was crucial for the development of all sorts of genetic therapy approaches to treat BHD, both in cells and in animal models and maybe even one day in patients. Another paper I have to choose is one published by our group this year, which describes the development of S/MAR minicircles (doi: 10.1007/s00109-010-0713-3). This paper shows how simple changes like the removal of the CpG motifs in DNA vectors can significantly improve their performance and shows how much potential these next-generation S/MAR vectors have for further progression and utility in gene therapy.

5. What are your short/long term goals?

In the short term I want to successfully deliver FLCN to renal cells of BHD animal models and show therapeutic correction or a delay in the onset of BHD symptoms. In the long term I would like the S/MAR vectors I’ve developed to help other BHD researchers and maybe even reach clinical application.

6. How do you see the field developing in the next ten years?

Hopefully the mechanisms behind BHD will be well understood and this will lead to the development of successful drug and gene therapies targeted against BHD.

7. Where do you see yourself in 10 years?

Still working in genetic research.

8. What’s the best advice you’ve been given?

On writing research papers – “the idea is not to put the reader to sleep in the first sentence”.

12. Do you have a scientific hero, dead or alive?

I am appreciative of the brilliance of Dr Kary Mullis who discovered PCR.



Would you like to learn more about the work of the Harbottle group? See the video interview with Dr Harbottle and read the Lab Profile on the BHD Research Blog.


BHD Personal Story: Michelle shares her perspective from the USA.

1. When and how did you first get diagnosed?

2006 – when left lung collapsed.

2. What symptoms prompted the BHD diagnosis?

Collapsed lung.

3. What impact did the diagnosis have on you?

Immediate surgery.

4. Have you explained BHD to family members?

My sister was diagnosed first and she explained it to me.

5. What implications do you think it has had on your family?

At first anxiety, then understanding, to the point that it can be.

6. Where did you go for more information on BHD syndrome?

The web.

7. Do you have advice for people who are looking for a diagnosis?

That’s a difficult question. For me, knowledge and continued education is key.

8. Has it affected you as a parent? E.g. telling your children, starting a family, genetic counselling.

No children.

9. Do you have tips and advice for caregivers?

Have never thought of this scenario.  Thanks for bringing it up – probably education and keeping up on current research.

10. What are your current symptoms?

Raised white bumps on my face.  VAT’s surgery on my left lung.

11. What treatment are you having, and have you had?

I have had VAT’s, talc infusion, pleurodesis and partial lobe removal of left lung.

12. How did you find a doctor?

No time to find a doctor, it was an emergency room surgery.

13. What has been your experience of the healthcare system and healthcare professionals?

Widely variable. Professions: From uninterested and awful to terrific. The Insurance system, in regards to all the paper work and billing statements, they were confusing, depressing and horribly expensive. …But the alternative would have been a lot worse.

14. Has BHD had any health insurance implications for you?

Of course it does.  It is used as a weapon against trying to find a more reasonable and affordable insurance carrier.  I am stuck with Anthem California Blue, who routinely raises our rates 2 to 3 times a year, in as much a 39 % in one jump.    I spend more for my health insurance than my homes’ mortgage or any other monthly or yearly bill.  It is my biggest expense.

15. What are your thoughts for the future?


16. What advice would you give to someone who has just been diagnosed with BHD?