Grab your walking shoes–spring has arrived!

The trees are turning green, flowers are in bloom and the birds have started singing again. Here in the South spring has sprung and that also means that lots of planning is underway for the Tennessee PKU Foundation’s two spring fundraisers–a walk for PKU in Nashville on May 3 and another taking place in Knoxville on May 17.

As they have done in years past, these two walks—as well as a third organized for Memphis, Tenn., later in the fall—are organized to raise money in support of PKU research. Since its inception, the Tennessee PKU Foundation has raised more than $63,400 for individual researchers and those supported through the National PKU Alliance. Other funds raised by the foundation stay within the state to support camp and conference scholarships as well as newborn welcome packets.

On a national level, the National PKU Alliance’s Scientific Advisory Committee—comprised of physicians, researchers and clinicians—reviews proposals submitted by researchers who are working in the inherited metabolic disease field and awards grants to those committed to advancing PKU treatments and ultimately developing a cure. Those researchers receiving grants from the National PKU Alliance in 2014 were just recently announced. You can read the full list of recipients on the nonprofit’s website, but two examples include Dr. Shawn Christ, associate professor of psychological sciences and associate director of the University of Missouri’s Brain Imaging Center, and Dr. Kristen Skvorak from the University of Pittsburgh Medical Center. Christ is examining the effects of PKU on gray matter structures in the brain, and Skvorak has been pursing ground-breaking experiments in liver cell transplants for PKU in a mouse model.

Several other U.S. states are also member organizations of the National PKU Alliance and if there’s one nearby your home, I encourage you to support them in their own individual fundraising efforts. However, if you do not have an affiliation with any of these groups but still feel so moved to also support PKU research, you can contribute online via the Tennessee PKU Foundation’s walk registration website. Even if you cannot attend one of these events in person, you can still play a role in supporting PKU research.

–NM

MRI Scans Helping to Advance PKU Research

When my husband and I recently attended the Network PKU Conference in Denver, Colo., there was a very interesting presentation given by Dr. Shawn Christ, director of the Clinical Neuropsychology Laboratory at the University of Missouri’s Brain Imaging Center. His research focuses on the brain and why conditions like PKU impact its structural and functional integrity.

After reminding attendees that hi-phe levels can build up and cause damage, Christ explained that he and his team have started using magnetic resonance imaging, or MRIs, to study impact to the brain. The equipment located at the Brain Imaging Center not only uses magnetic fields to generate images of the brain, but is also outfitted with hi-definition projectors and surround sound speakers for conducting visual and auditory memory experiments.

When used on PKU patients, MRI scans can capture any damage that might have been caused to the white brain matter, thus providing a glimpse into the structural integrity of the brain. What’s more though, Dr. Christ has begun looking at the functional integrity of the brain by asking research subjects to solve math problems while undergoing an MRI. Another test the team might use examines memory function by asking participants to watch a series of letters and then push a button when the letter they see is the same as what they saw two letters before.

Dr. Christ performed these tests with six PKU patients (who had elevated protein levels) and six non-PKU patients. He then looked to see what parts of the brain people with PKU are using differently than those without PKU. What Dr. Christ found was that PKU patients were activating specific areas of the brain more than the non-PKU participants. In other words, they were compensating.

Fascinating, huh? Well, it gets better. The research, as it turns out, can be applied beyond PKU. That’s because people with learning disabilities, autism and even schizophrenia will all benefit from research focused on brain structure and function. Here’s a video created by the MU News Bureau that further explains the possibilities:

Research from University of Missouri Brain Imaging Center May Lead to Treatment of a Variety of Mental Disorders from MU News Bureau on Vimeo.

In the future, Dr. Christ hopes to explore why it is that some PKU patients are more affected by hi-phe levels than others. He is also planning to team up with BioMarin to see what happens in the brain when phe levels are dropped using Kuvan treatments.

I’m certainly looking forward to hearing more about the ongoing research Dr. Christ and the other researchers are pursuing at the University of Missouri’s Brain Imaging Center!

–NM