The Funding Environment for PKU Research Today

Published on

Dr. Michael Gibson, chair of The Clinical Pharmacology Unit at Washington State University, explains that over the last decade clinical research funding for rare diseases is gaining momentum. He cautions that despite these gains the environment for research funding today is challenging. Dr. Gibson cites the importance of patient involvement and grass roots efforts in providing important support for researchers. He offers optimism about novel research efforts underway that may lead to new treatments options for patients.

View more programs featuring

Transcript

Please remember the opinions expressed on Patient Power are not necessarily the views of our sponsors, contributors, partners or Patient Power. Our discussions are not a substitute for seeking medical advice or care from your own doctor. That’s how you’ll get care that’s most appropriate for you.

Kevin Alexander:

Hello.  I'm Kevin Alexander, an adult living with PKU, bringing you the latest news and information affecting the PKU community.  And I'm joined today by Dr. Mike Gibson of Washington State University, someone who does a lot of research in the PKU arena.  And, Dr. Gibson, first of all, what is the current environment like for PKU research funding?  Is there a need for more funding, or are the researchers able to get access to the funds that they need? 

Dr. Gibson:

Well, let me be blunt.  Times for research funding across the US, and across the globe are really, really tight.  I mean, you've all heard about the budgetary crunches.  There is a significant budgetary crunch at the NIH, which is our main funder for health-related research, the National Institutes of Health.  Probably the most recent cut there has been around five, perhaps upwards of 10 percent. 

This has really made competitive research much more competitive, and I think the gravest obstacle we face, as basic scientists, is being able to translate our work into clinical trials, into translational studies.  And that's what we really are struggling with, is finding the dollars through the NIH, through other entities, to do good clinical trials on new approaches to treatment, whether it be PKU or any other disease.  The state of the art right now, it's a little bit tough out there. 

Kevin Alexander:

One question, follow-up question on that, is it because of the overall budget cuts in general, like you mentioned NIH, or does it have anything to do with the fact that PKU is a rare disease and there's a lack of funding available for rare diseases?  Does that have anything to do with it, at all? 

Dr. Gibson:

Actually, I would say, Kevin, in the last five to 10 years, funding for rare diseases has really, really improved, and I think that's a real reflection on the grassroots activities.  It's a reflection on people like you, on family members, on family support groups that have made their voice heard, their representatives, and their state senators.  They have gone to Washington, D.C.  They've gotten people energized.  They've made the clear statement that rare diseases are not as rare as people sometimes think, that in the aggregate, these diseases are not rare at all. 

And I think that in the last five to 10 years, even though many, many clinical and basic research activities have been somewhat hit because of economic times, I think in the last five or 10 years funding for rare diseases has really kind of moved upwards.  And that's promising, and I think that study sections, which review our grants, really are now beginning to see the value of basic research into rare disorders, which can tell us so much about very generalized disorders, like diabetes or cardiovascular disease or nerve degenerative disease.  I think things are pretty good for inborn errors research, but they could always be better. 

Kevin Alexander:

You said, generally speaking, over the last few years the support for the rare disease community has increased, however, right now, due to budget cuts, and other things, it is tight.  Do you think it's safe to say that the best thing that all of us who are affected by this disease, or any rare disease for that matter, the best thing we can do is just to keep talking about it, keep sharing, whether it's on Facebook, sharing these videos, sharing information.  You said the grassroots movement is instrumental.  How instrumental do you think that is? 

Dr. Gibson:

I think especially with the advent in the last several years of expanded newborn screening, it has been pivotal, absolutely pivotal.  Because the advent of the expanded newborn screening has really raised the awareness of rare genetic diseases, and how many there are out there, and how many can be documented early in life, where some sort of treatment can be implemented.  And I think that the family support groups, and others with some of the disorders, have really brought that awareness to the attention of state legislators, and that's moved to the federal level. 

I think, as you say, keeping your voice heard, keeping the dialogue going,  just keeping awareness up there, has been so, so pivotally important, and I think it will continue to be especially as we're struggling with decreased funding for basic and clinical research. 

Kevin Alexander:

Now, obviously you have your own special areas where you do PKU research, and research in our community, but what are some of the other areas in PKU that are being researched today that you believe have promise or that are showing promise? 

Dr. Gibson:

Oh, there's a lot of exciting stuff going on in PKU.  A lot of preclinical work has gone into gene therapy, and I have several collaborators and colleagues that are interested in that, but that is still in the animal model, and hasn't moved yet to human clinical trials. 

I'm well aware now of more than one center doing a cell transplantation for PKU patients in the liver, which five or six years ago I never would have thought would happen, because particularly when you talk to a lot of people and you think, well, PKU is a treatable disorder, primarily of course by diet, protein intake, etc., but now we're looking at approaches for gene therapy for reprogramming the liver so that you can basically add back enzyme activity to the liver. 

There are a variety of new approaches with macrobiotics, and new dietary approaches, for example, the studies that are going on at the University of Wisconsin using glycomacropeptide, which is a dietary intervention of a cheese product that is devoid of phenylalanine.  I think that especially with a grassroots, family-supported organization like the National PKU Alliance, that is out there, that is trying to fund, and successfully funding alternative ideas that might be not exactly mainstream and accepted by other funding organizations, I think that that group has just done so much to move along the genesis of ideas and new approaches to treat PKU.  It's just astounding what's happened in the last five or six years. 

Kevin Alexander:

Well, it's definitely exciting times to live in.  I know what it was like for myself growing up in the 1980s with PKU, and some of the information and knowledge I had access to then, is different than the information we have access to today, and obviously a lot more opportunity to connect with other people.  If you live in areas where there are not very many other people with PKU in your physical location, now there's social media and other ways you can get involved and try to raise awareness of PKU. 

But thank you again, Dr. Gibson, for joining us today. 

Dr. Gibson:

You are welcome, Kevin.  I enjoyed it. 

Kevin Alexander:

Again, I'm Kevin Alexander, an adult living with PKU, bringing you the latest news and information affecting our community.  Remember, knowledge can be the best medicine of all. 

Please remember the opinions expressed on Patient Power are not necessarily the views of our sponsors, contributors, partners or Patient Power. Our discussions are not a substitute for seeking medical advice or care from your own doctor. That’s how you’ll get care that’s most appropriate for you.


Page last updated on