March 2012

Dr Doug Medvetz and Drew

BHD Researcher Interview: Dr Doug Medvetz is a post-doctoral research fellow studying the protein interactions of Folliculin. Dr Medvetz is part of Professor Elizabeth Henske’s group at Brigham and Women’s Hospital in Boston, USA.

1. How did you get interested in BHD research?

When I joined Lisa Henske’s lab back in September of 2008 and we discussed the project and BHD field as a whole.

2. What are you currently working on?

We have discovered that FLCN interacts with a protein named p0071 that has been implicated in cell adhesion and RhoA regulation.  We are currently exploring the role of FLCN in both cell-cell adhesion and RhoA signalling.

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

I see two hurdles in the field: 1) A lack of commercially available antibodies for FLCN that work for immunocytochemistry and immunohistochemistry; and 2) Genetic mouse models that more closely recapitulate the disease are needed.

4. What recent developments in the field have interested you most?

I have been most intrigued in the research that is being done to determine the crystal structure of FLCN. 

5. Do you have a favourite research paper?

In the BHD field, I really enjoyed the drug screening paper by Lu and Maher (Mol Cancer Ther, 2011) as my main interests are in drug discovery and development.

6. What are your short/long term goals?

My short term goals are to publish our manuscript regarding FLCN’s role in cell adhesion and RhoA signalling.  In the long term, I would like to have my own lab focused on drug discovery and drug development.

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

I believe in the next ten years the BHD field will have a huge influx of papers that define the molecular mechanisms of FLCN’s function.  I feel with all the data that is currently being generated, things are progressing rapidly.

8. What’s your favourite book/film/music?

Favorite Book:  The Da Vinci Code; Favorite Film: Tough one since I watch a lot of movies, but have to say “White Men Can’t Jump”.

9.  What did you want to be when you were younger?

A pilot in the U.S. Air force.

10. Where do you see yourself in 10 years?

Hopefully with my own lab and travelling the world.

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

Everything happens for a reason.

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

Not one in particular…



BHD Personal Story: Drew is from the USA and was diagnosed with BHD in 2007.

1. When and how did you first get diagnosed?

It was a fluke—back in 2007, I went in to get a mole removed and my dermatologist asked about the “little white bumps” on my face and neck. Since I spent a lot of time out in the sun on the farm when I was growing up, I thought they were a result of sun damage. The dermatologist then asked if I’d ever had a collapsed lung. This was a surprising question to me! I answered that yes, I’d had my right lung collapse twice and my left lung once. He replied that I might want to have an ultrasound of my kidneys because there was reason to believe I had BHD syndrome. Wow! Sure enough, an ultrasound found a big tumour hanging off my left kidney. My entire kidney was subsequently removed. The amazing part was, this dermatologist had read up on BHD syndrome just before my appointment.

2. What symptoms prompted the BHD diagnosis?

White bumps on my face and neck. I’d had collapsed lungs as well, but didn’t know they were related to BHD until my dermatologist put the symptoms together.

3. What impact did the diagnosis have on you?

Shock! But then I started thinking that both my mother and her father must have been affected by BHD as well. They both suffered from collapsing lungs during their lives, and both had the bumps on their skin like I do. My grandfather died at 66 from cancer and the fear of that kind of death has haunted me since I was 12 years old.

4. Have you explained BHD to family members?

Yes, with my wife and (adopted) daughter. Not much at all with my mom’s family however—no one else is affected by it (it stops with me, fortunately!).

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

Adds several layers of stress to my immediate family. My wife also has some medical conditions she’s dealing with.

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

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

Suggest the possibility to your doctor. I had no idea, nor did my regular doctor.

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

Our daughter is adopted so she is not likely to have BHD!

9. Do you have tips and advice for caregivers?

Not so far; just need the awareness.

10. What are your current symptoms?

Had my left kidney removed entirely in 2008. My right kidney has developed a small tumour now; they are watching it with MRIs every six months. I’m actually fairly healthy otherwise—I made an effort to get myself into decent shape before the 2008 surgery and have kept it up since. I’m probably in better physical shape than I have been since I was in my 20s.

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

Left kidney removed 2008, left lung sclerosed in 1997, chest tube on right side back in 1987. Currently monitoring tumour on remaining kidney.

12. How did you find a doctor?

I’m fortunate to have a very good pulmonologist and nephrologist!

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

Quite good—I’m one of the fortunate people here in the U.S. who still has good health care coverage.

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

Not so far. But it would be devastating financially if we did not have good coverage. We are far from wealthy.

15. What are your thoughts for the future?

Scares me to think that my health coverage could be dropped. I also know that I will be facing more surgery to take care of the tumour on my remaining kidney.

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

There are lots of us out here going through the same thing…join the BHD group and let your doctor know about it too!