December 2016

Dr Masaya Baba and Sabina

BHD Researcher Interview: Dr Masaya Baba is an associate professor at the Kumamoto University in Japan. Dr Baba is interested in the molecular mechanisms of kidney cancer development in BHD Syndrome and in the molecular functions of FLCN in murine disease models.

1. How did you get interested in BHD research?

I previously served as a urologist and saw patients suffering from renal cell carcinoma (RCC). This experience motivated me to do basic kidney cancer research. During my Ph.D. program in Yokohama City University, I studied the tumor suppressor protein pVHL and had the great opportunity to perform collaborative research in Dr. Berton Zbar’s lab at the NIH for two months in 2001. I was so excited to hear that Dr. Zbar’s lab was trying to identify a novel tumor suppressor gene which was responsible for BHD syndrome, another hereditary kidney cancer syndrome. I expressed my interest to Dr. Zbar and Dr. Laura Schmidt that I would like to investigate the functional clarification of a new tumor suppressor, once it was cloned. When FLCN was identified in 2002, they remembered my wish and kindly gave me the opportunity to work as a postdoctoral fellow in their lab.

2. What are you currently working on?

The physiological outcomes caused by loss of Flcn in mice has given us many hints to aid in our understanding of the molecular function of FLCN. Now I am trying to answer the question of how cellular metabolism is regulated by Flcn and how this metabolic change alters the signalling pathways that result in dramatic phenotypes in mice. The other thing I am interested in is to understand the molecular mechanisms of RCC development in BHD syndrome. Based on mouse models, loss of Flcn causes immediate uncontrolled proliferation of kidney epithelial cells. But loss of Flcn itself seems not to be sufficient for RCC development.  Additional genetic and / or epigenetic alterations must be required for RCC development in BHD syndrome.

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

Metabolome analysis and next generation sequencing technology would help a lot.

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

All the discoveries relating to FLCN/FNIP1/FNIP2 are really interesting to me. Among them, a series of recent discoveries supporting the idea that FLCN/FNIPs (LST7/LST4) function as a complex seems to be very important.

5. Do you have a favourite research paper?

There are many great research papers. If I would select one which is special to me, I would choose “Identification of the von Hippel-Lindau disease tumor suppressor gene” (Latif et al., Science, 1993). It is no doubt that this paper is a landmark in the research field of RCC. I still remember that Dr. Taro Shuin explained the importance of this discovery with excitement when I was a medical school student in 1993.

6. What are your short/long-term goals?

My short-term goal is to accomplish my current research projects on Flcn.

My long-term goal is to develop an innovative therapy for advanced kidney cancer patients.

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

A 3D structure of the protein complex FLCN-FNIP1/2-AMPK should be solved. I believe this accomplishment would enable us to make great progress toward understanding and controlling FLCN function in the next ten years.

Light-hearted questions:

8. What is your favourite book /  film/ music

Book- Jonathan Livingston Seagull

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

When I was a child, I liked to play around in the forest, pond, river and sea and look for insects, fishes, frogs and many other creatures. I wanted to be an entomologist or a veterinarian. Now my six-year-old son is saying that he wants to be an entomologist.

10. Where do you see yourself in 10 years?

I hope I will enjoy research with my lab members and make a contribution to cancer research advancement.

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

“Vision and Work hard”

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

Berton Zbar M.D.

BHD Personal Story: Sabina is from Spain and was diagnosed with BHD in 2013.

1. When and how did you first get diagnosed?

Three years ago, when I was 26 years old.

2. What symptoms prompted the BHD diagnosis?

Recurrent pneumothorax and family history of BHD.

3. What impact did the diagnosis have on you?

I became very anxious and worried about my health. It has marked a turning point in my life.

4. Have you explained BHD to family members?

Yes, I have.

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

They thought that it was better to know the possibility of having a disease.

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

On the internet, but always trying to find information on reliable sites.

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

It is better to know what can happen with your health and be able to do an early diagnosis.

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

I don’t have children, but I have been thinking about genetic counselling and the possibility of pre implantation diagnosis when the moment arrives.

9. Do you have any tips and advice for caregivers?

No, I don’t.

10. What are your current symptoms?

Now I don’t have symptoms. I am being controlled every year.

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

I had surgery in 2011 for recurrent pneumothorax.

12. How did you find a doctor?

In the city hospital.

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

Very good experience and well supported.

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

Not for now because we have free healthcare.

15. What are your thoughts for the future?

To take care of my health and to think of my future family.

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

She or he should take care of their health with a professional and try to be an optimistic person.