Rally for Research for Katie
Click here to view a video on Dr. Swanson and his research.
Click here to read an article featuring Dr. Swanson's research and Katie.
Katie is: Cute! Funny! Happy! Affectionate! Silly! Smart! Exuberant! Gregarious!
Our Katie is an 11-year-old girl who has had developmental delays since she was a baby. She started walking when she was five, but is still a bit wobbly. Her speech consists of “mama” and “yeah” once in a while, and she can gesture by nodding her head and pointing. She uses an iPad fairly well to help tell us what she wants, especially when it comes to food! She can kick a ball, scribble, get a piece of cantaloupe on a fork and to her mouth with no problem, and she hands me the remote when she wants me to change the channel!
We had no diagnosis for Katie until about four years ago when we took her to see Dr. Vinodh Narayanan at the Translational Genomics Research Institute in Phoenix. He did genomic testing on her and found that she has a rare mutation on a gene called GRIK2 that is causing her delays. Dr. Narayanan then found Dr. Geoffrey Swanson, a scientist at Northwestern University Feinberg School of Medicine in Chicago, who studies this gene and others similar to it. Dr. Swanson is currently applying for grant money so that he can do extensive research on this rare mutation. The hope is to gain some insight into how this mutation affects Katie and others like her, and if there are any treatment options or medicine to help her and others with this mutation in the future.
Dr. Swanson is trying to raise $250,000. Since Katie is our daughter and this cause is very important to us, we would like to help him raise as much money as possible towards his goal. If you are able to donate $10 or more it would be VERY MUCH APPRECIATED! Your gift is 100% tax deductible and the entire amount will go directly to Dr. Swanson’s research of this rare mutation. If you are not able to donate, you can still help us by sharing this information.
Amy and Paul Murphy
Additional Information on Dr. Swanson’s Research
At Northwestern University Feinberg School of Medicine, Dr. Geoffrey Swanson’s breakthrough research is shedding light on how rare genetic variations underlie neurological disorders in Katie and other children.
Dr. Swanson’s studies are focused on a specific type of mutation that occurs in a gene known as Grik2, which produces a protein called the GluK2 kainate receptor subunit. These proteins are extremely important to brain development and function. Unfortunately, we simply do not know why changing a single amino acid (the building blocks of proteins) in the GluK2 kainate receptor has such a severe impact on children like Katie. To get at this critical question, Dr. Swanson and his dedicated colleagues are generating new experimental models that mirror Grik2 mutations like Katie’s.
They hope that the new experimental models will yield important new insights into brain signaling and reveal new information regarding the role of kainate receptors in developing neural circuits in the brain. Their working hypothesis is that kainate receptors have important roles in the correct timing, pattern, and structure of critical sites of communication between neurons in the developing human brain.
Ultimately, this innovative research led by Dr. Swanson has the potential to help physicians improve their ability to diagnose and treat people, like Katie, who are living with disorders resulting from mutations in kainate or other receptor genes.