September 2012

Dr Laura Pradella and Brenda

BHD Researcher Interview: Dr Laura Pradella is a post-doctoral researcher under the supervision of Professor Giuseppe Gasparre at the University of Bologna. Dr Pradella completed a PhD studying PTEN, the disease-causing gene in Cowden’s syndrome, a rare inherited cancer syndrome characterised by tumour-like growths on the skin. Dr Pradella is currently continuing this work, as well as investigating the role of FLCN in the development of oncocytic tumours.

1. How did you get interested in BHD research?
I found out that BHD Syndrome was similar to a genetic disorder I worked on, namely Cowden Syndrome, caused by mutations in the PTEN tumour suppressor gene. Among other features, both syndromes are characterised by the development of oncocytic tumours. The research group I belong to mainly studies biological and biochemical aspects of sporadic oncocytomas associated to mitochondrial DNA mutations. I became particularly interested in the elucidation of the molecular changes underlying syndromic oncocytomas and in better understanding the role of FLCN and PTEN in mitochondrial biogenesis and oncocytic transformation.

2. What are you currently working on?
I am studying the implications of FLCN and PTEN in the pathogenesis of sporadic oncocytomas. Furthermore I am working on the role of FLCN and PTEN on mitochondrial biogenesis in a cellular model of oncocytoma. At the same time, we are developing a Drosophila model that combines PTEN and FLCN double heterozygosity, to then observe tumour development.

3. What would help current research (equipment, technique etc.)?
It would be very useful to develop FLCN specific antibodies to be used in immunohistochemistry and immunocytochemistry.

4. What recent developments in the field have interested you most?
The implications of FLCN in the regulation of mitochondrial biogenesis, as recently brought up at the last BHD symposium.

5. Do you have a favourite research paper?
Yes, it is that by Klomp J.A. et al., in BMC Medical Genomics 2010. It shows first how BHD kidney tumours differ from other neoplasia and demonstrate first that they are characterised by mitochondrial genes up-regulation.

6. What are your short/long-term goals?
To better elucidate the role of FLCN in mitochondrial biogenesis and oncocytomas, to understand the differences among syndromic and sporadic oncocytic tumours and to clarify if PTEN and FLCN may act in a common pathway leading to the regulation of mitochondrial biogenesis. The development of a fly model is a long term goal.

7. How do you see the field developing in the next ten years?
My prediction is that we will have soon the complete structure of FLCN and that we will completely understand its functions and its interactions, along with its influence on cell survival pathways regulated by mTOR and AMPK. These findings will allow the understanding of cancer pathogenesis in BHD patients and eventually help to start clinical trials.

8. What’s your favourite book/film/music?
Favourite book: “The Green mile”. Favourite film: Awakenings. Favourite music: U2, Coldplay, Adele.

9. What did you want to be when you were younger?
A veterinarian or a biologist. I discovered as a little girl my passion for science.

10. Where do you see yourself in ten years?
I see myself in a laboratory, no matter where, working on BHD, CS and their mitochondrial aspects.

11. What’s the best advice you’ve been given?
Trust yourself.

12. Do you have a scientific hero, dead or alive?
Yes, Prof. Rita Levi Montalcini.


BHD Personal Story: Brenda is from the USA and was diagnosed with BHD in 2010.

1. When and how did you first get diagnosed?

October 2010 – after a full year of testing and seeing approximately 5 different physicians – some even thought I was a hypochondriac. National Jewish Health tested me for BHD after a week of testing at their facility in Denver, CO.

2. What symptoms prompted the BHD diagnosis?

Shortness of breath, pressure & burning in chest.

3. What impact did the diagnosis have on you?

I have had to adjust my lifestyle.  We built a one-story home so I would have minimal steps to climb.  I perform tasks more slowly due to getting out of breath so easily.

4. Have you explained BHD to family members?

Yes, I have.  My mother was with me when I met with a genetics counselor in Colorado.

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

They have been understanding & very helpful in this time of adjustment.

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

The internet & your website.

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

This is so often underdiagnosed.  Exhaust every option & insist on a genetic blood test to confirm or deny a diagnosis.

8. If you have children, has BHD affected you as a parent? E.g. telling your children, starting a family, genetic counselling.

I have been upfront with my children since the beginning of my diagnosis.  They will be tested when they are older.

9. Do you have tips and advice for caregivers?

Just take one day at a time.

10. What are your current symptoms?

Shortness of breath & heaviness in chest.

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

Mainly maintenance right now – regularly scheduled CT scans of my lungs & kidneys.  Whenever I get a cold, I have to have antibiotics & steroids.

12. How did you find a doctor?

Through my year of testing & meeting several doctors, I was fortunate to have found a Pulmonologist that has been instrumental in my diagnosis.  Dr. Ramesh Kaul sent me to National Jewish Health in Denver, CO, where I was finally tested for BHD.

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

Most healthcare physicians have not even heard of BHD.

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

No – thankfully we have good insurance that has paid for all of my various tests.

15. What are your thoughts for the future?

Good health maintenance is my main focus.  I have a Pulmonologist & a Urologist who monitor my lungs & kidneys.

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

Find a doctor you trust for your healthcare.  Learn all you can to be aware of any significant changes in your health.