We are excited to say that with your generosity we were able to raise over $11,000 to help Dr. Swanson with researching Katie's rare gene mutation, and we cannot thank you enough! We had no idea how much we would be able to raise, and are so happy to have made it over and above the $10,000 mark. We are hopeful that this research will benefit Katie and other children in the future. 

Thank you for making a difference.

 Amy and Paul Murphy

A note from Dr. Swanson:

I sincerely thank everyone who has contributed to this project. Most of all, I am very grateful to Amy and Paul for their continuing enthusiasm and support for our research. It has been amazing and gratifying to see the response to the Murphy's fundraising efforts. Your donations have opened up new lines of research that were not possible previously. With your help, we are very hopeful that 2018 will bring a new understanding of how Katie's genetic variation alters development of the nervous system. Best regards to everyone and Happy New Year. 

Geoff Swanson

A huge thank you to everyone for your thoughtfulness and generosity during this holiday season! 

Because of you, we have raised nearly $10,000 to support Dr. Swanson’s research. We are hoping to make our goal of $25,000 by the end of the year. Donations are 100% tax deductible, and the gifts go directly to Dr. Swanson’s research to discover how Katie's genetic alteration causes nervous systems to develop in slightly different patterns. He will tackle this difficult challenge in part supported by your generous donations.   

This research has the potential to shed light on this rare gene mutation not only for Katie, but for others as well. Thank you again! 

Happy Holidays,  

The Murphys

Thank you again for your support as we are now at 30% of our goal!  Below is a description by Dr. Swanson of how the funds raised will be used.

Amy 

Our research goal is to understand how Katie’s genetic variation impacts the development of brain cells. Katie has a single alteration in a gene, GRIK2, which generates a protein known as a “kainate receptor”. We have no idea how a change in the function of these receptors lead to Katie’s childhood disorder. As one possibility, her brain cells (or “neurons”) might be more (or less) “excitable”, which is a measure of how likely brain cells are to send a signal to a connected neighboring cell. Alternatively, wiring of connections or the efficiency of communication between neurons might be altered by the genetic variation and resulting change in kainate receptor function. 

We will use the donations spearheaded by the Murphy family to begin to discriminate between these possible changes in development by generating and analyzing neurons from Katie herself. Advances in cell culture technology allow us to reverse the development of skin cells back into an earlier state, known as “induced pluripotent stem cells” (or iPS cells). iPS have the capability to develop into any type of cell, including neurons. Our plan is to generate a number of different classes of neurons from Katie’s iPS cells. We will then carry out experiments to determine whether the newly-made neurons have excitability properties that are similar to or contrast with those in “sister” neurons in which Katie’s genetic variation has been reverted to the version found in her parents. We also will compare how the neurons communicate with each to determine if this process or more or less efficient. These experiments will tell us a lot about how brain cells develop and form networks in the context of Katie’s altered kainate receptor function. The iPS approach we have chosen is widely used to explore the importance of altered genes on nerve cell properties. 

The proposed experiments represent an important first step towards trying to define how Katie’s genetic variation results in altered neuronal function. They also have the potential to yield a new understanding of how kainate receptors shape nervous system development. We are very appreciative of the opportunity that the fundraising effort provides to make critical research advances relevant to rare genetic disorders in Katie and other children. 

Dr. Geoffrey Swanson 

Thank you so much to all of you who have donated, shared our information, or even just told us that you love our video. We are humbled by the support from friends, family, and even strangers, and are thrilled that we are at 15% of our goal! Thank You! 

A note from Dr. Swanson:

Thanks Amy for all the effort and everyone who has donated! We very much appreciate the support for our research into kainate receptors and brain development. 

You guys have been inspiring - we now know there are other kids around the world with genetic changes similar to Katie's. That wouldn't have happened without the Murphy's enthusiastic support for scientific research and the awesome folks at the Translational Genomics Research Institute. I hope we can make some real strides towards understanding how those genetic changes affect development. This is a tough challenge and one that won't be easy to solve, but we have some clear paths forward and already have some promising results.

Thanks again to everyone!

Geoff Swanson