Benefits of Adding SYNGAP1 Researchers

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SRF recently talked with Dr. Kimberly Wiltrout. As noted in her bio on the BCH website, Dr. Wiltrout is a neurologist and epileptologist at Boston Children’s Hospital with board certification in neurology with special qualification in child neurology. She obtained her Bachelor of Arts in neuroscience at Franklin & Marshall College and her MD degree at the University of Rochester, after which she completed her child neurology residency and epilepsy fellowship at Washington University in St. Louis before completing a fellowship in the Epilepsy Genetics Program at Boston Children’s Hospital. In addition to seeing patients in the Epilepsy Genetics Program, she is actively involved in clinical research projects with a focus on SYNGAP1 Related Disorder.

Dr. Wiltrout’s Connection with SynGAP Research Fund

SRF:  Tell me about your journey to becoming a doctor.

Dr. Wiltrout:  It started years ago doing some research in college for a clinic for special needs children. I was researching genetic diseases in infants and children with epilepsy and was interested from the start.

SRF:  How did you come to work with SynGAP Research Fund & SYNGAP1?

Dr. Wiltrout:  At the end of my training at Washington University in St. Louis, I was planning to complete a second fellowship in neurogenetics and epilepsy genetics. My mentors at Wash U knew Dr. Ann Poduri and connected me with her. It was fortuitous timing, as she had been planning to study SYNGAP1 and our interests aligned. 

SRF:  What is a fellow?

Dr. Wiltrout:  A fellow is someone who has completed medical school and residency training. They then specialize beyond residency training by doing a fellowship, such as the fellowships I completed in epilepsy and then in neurogenetics.

Dr. Wiltrout’s work on SYNGAP1

SRF:  How would you describe the work you do on SYNGAP1 to a layperson?

Dr. Wiltrout:  We have identified the disorder, so now we’re looking at the natural history of those diagnosed with SYNGAP1. What does it look like? What are the symptoms and how do they change over time? We need to identify these so we can understand the symptoms that therapies need to target and how we can be sure that the therapies are making a difference. 

Defining the disorder and its impact is made easier by utilizing the data collected by Ciitizen. We try to describe all the symptoms as well as attempt to use the data to predict a developmental timeline for patients. This is also important so families can understand what they’re facing in the future. 

SRF:  You presented some clinical spectrum data at the Conferences in Nashville and Orlando. How does SRF’s participation in Ciitizen help you & other researchers?

Dr. Wiltrout:  We need a lot of data points, which means we need a lot of participants. The more we have, the more we can say with confidence that there is a pattern of behavior & symptoms. This gives more strength to what we’re seeing, and identifying those patterns will help in the long run to develop and test treatments. Collecting all the SYNGAP1 data in Ciitizen helps us to include more families in the data.

Funding Research

SRF:  Tell us about your recent faculty development award.

Dr. Wiltrout:  Boston Children’s Hospital gives awards to foster research involvement of their early faculty. With this award, I will be able to continue my research with SYNGAP1. 

SRF:  What is the benefit of funding a fellow?

Dr. Wiltrout:  It is important for rare neurogenetic disorders to engage researchers in studying their particular disease. When you can connect with clinicians early in their career, funding them as a fellow is a good way to stimulate their interest in and encourage them to take on your rare disease long term.

SRF:  Why should SynGAP Research Fund want to increase the number of researchers working on SYNGAP1.

Dr. Wiltrout:  Increasing the number of SYNGAP1 researchers helps numerous smaller projects get going and creates important collaboration opportunities. These smaller grants help to  establishes data as a launching point for seeking larger grants, which will lead to the next step. Having more people collaborating on SYNGAP1 moves the science forward and potentially more quickly toward a potential cure.

SRF:  Thank you, Dr. Wiltrout, not only for talking with me, but also working toward a cure for SYNGAP1.

Dr. Wiltrout:  You’re very welcome.

Kim Wiltrout (far right) visited Boston with other scientists & SYNGAP1 Families at the 3rd Annual Sprint4Syngap.
“It was so nice to see the families and children!”