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.

For those of you just joining us, welcome to our talk today by Dr. Connie Smith-Hicks entitled “Biomarker Development a path towards clinical trial readiness in SYNGAP1”. It is now my pleasure to turn things over to Dr. Smith-Hicks.

You may also like

57 - Discussing SYNGAP1 Related Developmental Disorders

Holly Harris, MD

Baylor College of Medicine

59 - Finding more SYNGAP1 patients with Probably Genetic

Lukas Lange, CEO

Probably Genetic

56 - Six Steps to Connecting the Dots: An Objective Approach for Meaningful Parent Participation in the Education of Children with Disabilities Under the IDEA

Richard Peterson, JD, MDR, LLM