Biomarker Development a path towards clinical trial readiness in SYNGAP1
Here are our introductory comments:
We are very excited to continue the SRF webinar series. The goals of the series are:
- getting you closer to the science
- making you aware of the research that is been done and the opportunities to participate
- and empowering your communications with clinicians
We also want to give a plug for our next webinar which will take place on August 20th at 10 PST. That will be with Dr. Elise Brimble on “Leveraging technology to improve access to rare disease research”
Today’s speaker is Dr. Connie Smith-Hicks. She is an assistant professor of neurology at Johns Hopkins University School of Medicine. She is also the Medical Director for the Center for Autism and Related Disorders, and the Director of Basic Science Research in Fragile X Syndrome at the Kennedy Krieger Institute. She earned her MD-PhD at Columbia Univ College, then trained in pediatrics at the Albert Einstein College of Medicine. She completed her training in child neurology and neuroscience at Johns-Hopkins and stayed as faculty.
In addition to SynGAP1 patients, Dr. Smith-Hicks sees patients with a variety of neurodevelopmental disorders in her clinic as the co-director of the Fragile X, SYNGAP1 and Rett Syndrome clinical programs. A translational program that she runs focuses on exploring EEG based biomarkers and virtual technologies to evaluate gait, behavior and cognition. Her research lab is focused on understanding the faulty communication between neurons which leads to the deficits seen in neurodevelopmental disorders using a variety of techniques.
Dr. Smith-Hicks is very accomplished, yet she is still extremely compassionate, enthusiastic and kind. We are grateful for the work she has done and her interest in developing biomarkers for SYNGAP.
After this brief introduction, I want to let you know a recorded version of this webinar will be available on the SRF website.
By the end of this presentation, you will have an opportunity to get your questions answered. We’d love to hear from you – please write your question in the chat.
Dr. Constance Smith-Hicks is a neurologist and research scientist at the Kennedy Krieger Institute (KKI). In this webinar, she talks about the importance of biomarkers in clinical trials and in developing therapies. Biomarkers are biological observations which are indicative of biological processes; they can be used for diagnosis, monitoring responses to a treatment, looking at the risk of disease progression, and much more. Dr. Smith-Hicks speaks about biomarker development in SYNGAP1 and how the biomarkers used to detect known clinical phenotypes of SYNGAP1, like epilepsy, cognition, etc, can be tested on SYNGAP1 patients to develop SYNGAP1-specific biomarkers. She then elaborates on the SYNGAP1 biomarker program at KKI, which includes the use of event-related potentials and blood to develop biomarkers for SYNGAP1, and how the researchers at KKI envision using these biomarkers. She closes the webinar by talking about the importance of natural history studies in scientific research.
Other Relevant Publications by Dr. Smith-Hicks
Sleep Abnormalities in the Synaptopathies-SYNGAP1-Related Intellectual Disability and Phelan-McDermid Syndrome
Determining pathogenicity of variants of uncertain significance and identification of a founder variant in the epilepsy-associated gene, SZT2
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