BHD Researcher Interview: Professor Eamonn R. Maher

Biography: Eamonn graduated in Medicine from the University of Manchester and after undertaking postgraduate training, moved to a Clinical Lecturer (and then Lecturer) post in Medical Genetics at the University of Cambridge. He took up the Chair of Medical Genetics at the University of Birmingham in 1996. His research is aimed at understanding the genetic basis of inherited diseases, especially those associated with kidney cancer, in order to develop new approaches to diagnosis and treatment.

1. How did you get interested in BHD research?

When I moved to Cambridge I started a project on von Hippel-Lindau disease and this expanded to other forms of kidney cancer. We were collaborating with Dr Bert Zbar, Michael Lerman and Marston Linehan on VHL disease and about 10 years ago Bert mentioned that that he had found an association between kidney cancer and BHD syndrome, so it was a natural step to set up a collaboration on BHD syndrome also.  We maintained an interest in BHD and then more recently we were able to expand our research with funding from the Myrovlytis Trust.

2. What are you currently working on?

We are investigating how the function of the folliculin protein is disturbed in BHD disease, looking for new therapeutic approaches to the treatment of BHD-related kidney tumours and studying the relationship between the genetics and clinical complications of BHD syndrome.

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

A lot of resources have been developed recently and the BHD research community moving forward nicely. One bottleneck is the scarcity of material and cell lines from BHD tumours – it would be very helpful to have more to work on.

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

I think the increasing knowledge of the function of folliculin and the development of mouse models of BHD are exciting. In addition the development of the European BHD Consortium has enhanced collaboration across Europe and is allowing us to share knowledge on the genetics and clinical complications of BHD.

5. Do you have a favourite research paper?

It is difficult to choose just one but the gene identification paper (Nickerson et al Cancer Cell. 2002;2:157-64) provided the basis for all the later studies on the function of the folliculin protein and genetic studies of BHD.

6. What are your short/long term goals?

In the short term, we want to complete our investigations of folliculin interacting proteins and their related pathways and develop potential new drugs for BHD tumours. Our longer term goal is to see the results of the laboratory research translated into new treatments in the clinic.

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

I think we will make real progress in understanding the functions of folliculin, but there are likely to be multiple functions so the field could be very complex. Hopefully some targeted therapies based on our knowledge of the biology of BHD will be shown to be beneficial in a clinical setting.

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

Unfortunately I don’t have much time for leisure reading but I liked “The Glass Bead Game” and enjoy taking my children to the cinema (e.g. Avatar) or watching a DVD (e.g. Rocky) with them.

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

I always wanted to play football (soccer) for Everton – unfortunately I didn’t have the talent and a career in medical science has been a good alternative!

10. Where do you see yourself in 10 years?

Hopefully still learning through my research and seeing families in clinic.

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

Seize the day

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

Many but Professors Malcolm Ferguson-Smith and John Yates gave me the opportunity to build a career in medical genetics and I took a lot of inspiration from them.

BHD Personal Story – Wendy, Australia

Wendy is a registered member of www.bhdsyndrome.org and has kindly taken the time to share her experiences of living with BHD syndrome.

1.   When did you first get diagnosed?

In January 1996 I was diagnosed with Kidney Cancer, BHD diagnosis was many years later after I conducted my own research and requested our Genetic Services to investigate.

2.   What symptoms prompted the BHD diagnosis?

I didn’t have any symptoms except for bilateral kidney cancer, but during the course of my research I realised that I had the whitish bumps on my face and neck consistent with Fibrofolliculomas.  I asked a dermatologist to biopsy one of the bumps, and sure enough I was correct.

3.   What impact did the diagnosis have on you?

I was relieved in a way, to finally put a name to it.

4.   Have you explained BHD to family members?

Yes, my sister who has also had bilateral kidney cancer, a spontaneous lung collapse and fibrofolliculomas has been tested.  Our children and siblings are yet to be tested though.

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

My children will eventually be tested but until then have decided not to start families. They are both informed adults, so I can only give them the information and guidance.

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

No one here in Perth, Western Australia, has ever heard of BHD so my information is gathered from the internet.

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

Yes, read up on it as much as you can.  Regular Renal Ultrasounds and or CT scans are an absolute must.

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

Yes, I feel awful that I have unknowingly possibly passed BHD on to my children.

9. What are your current symptoms?

I have been cancer-free for 11 years.  I have many fibrofolliculomas on my face and neck (they seem to increase as I get older.) I have recently had bowel polyps removed.

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

Radical left nephrectomy and partial right nephrectomy.  Colonoscopies and polyp removal.

11.  How did you find a doctor?

I only have a GP and an Urologist.  I haven’t come across a doctor in WA who has any knowledge of BHD.

12. Do you have advice for people living with the BHD?

Be vigilant but get on with the art of living.

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

No health professional has ever shown any interest in BHD, except for the Genetics people. They were very excited to find a new type of mutation.

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

No, not at the moment as I was insured before (and have continued to be) the diagnosis. I don’t know if it would be an issue if I applied for insurance now though.

15.  What are your thoughts for the future?

I hope and pray that I haven’t passed BHD onto my children.  I wanted to live long enough to see my children in to adulthood, now I would like to retire with my husband and be around long enough to enjoy some grandchildren.

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

I hope and pray that I haven’t passed BHD onto my children.  I wanted to live long enough to see my children in to adulthood, now I would like to retire with my husband and be around long enough to enjoy some grandchildren.

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

It’s not the end of the world, just a challenge. Advances in surgical technique now means kidney sparing is possible. Be vigilant and cross your bridges as you come to them, not before.