Dr. Linda Laux, Lurie Children's Hospital
Dr. Laux is an Attending Physician at Lurie Children’s Hospital’s Neurology and Epilepsy Center and is an Assistant Professor of Pediatrics at Northwestern University Feinberg School of Medicine. Her special interests include Pediatric epilepsy, particularly Dravet syndrome.
Dr. Ian Miller, Miami Children's Hospital Brain Institute
Dr. Miller is the Director of Neuroinformatics, Department of Neurology at Miami Children’s Hospital Brain Institute. His special interests include Dravet syndrome, as well as informatics, computational methods, and process optimization. At present, he spends roughly 80% of his time devoted to research.
What gene mutation causes Dravet syndrome?
What are the different mutation types associated with Dravet syndrome?
Do mutation types play a role in the outcome of the patient?
When does the mutation that causes Dravet syndrome occur?
What are the chances of having a second child with Dravet syndrome?
What other genes besides SCN1A are associated with Dravet syndrome?
Does an SCN1A mutation lead to autism?
Are there associated mitochondria issues with Dravet syndrome?
What causes the gene mutation that results in Dravet syndrome?
What is genome sequencing?
What is a de novo mutation?
Dr. Sooky Koh, Lurie Children's Hospital
Dr. Koh is an Attending Physician at Lurie Children’s Hospital’s Neurology and Epilepsy Center and is an Assistant Professor of Pediatrics at Northwestern University Feinberg School of Medicine. Her special interests include epilepsy, basic science research on the consequences of seizures on the developing brain, and the cognitive and neuropsychological effects of anticonvulsant medications.
Dr. Jack M. Parent, University of Michigan
Dr. Parent is is an associate professor of neurology, director of the Neurodevelopment and Regeneration Laboratory, and co-director of the Comprehensive Epilepsy Center in the University of Michigan Medical School. His current research interests include neural stem cell transplantation to treat brain injury and neurodegeneration, and the modification of adult neural stem cells to promote brain repair after stroke or prevent epilepsy. He serves as the Chair of DSF's Scientific Advisory Board.
Why is a patient registry so important for Dravet research?
Are there existing medications that could have a secondary use in Dravet?
What are the most promising research avenues for Dravet?
What are induced pluripotent (iPSC) stem cells?
How does mutation type affect the clinical presentation of Dravet?
Why aren’t pharmaceutical companies interested in research for rare diseases?
What is the timeline for the development for a new medication that could be used for treatment?
How can we improve collaboration between clinicians and researchers?
Dr. Scott C. Baraban, UCSF
Dr. Baraban is a Professor in Residence of Neurological Surgery at the University of California, San Francisco (UCSF) and a William K Bowes. Jr. Endowed Chair in Neuroscience Research. Dr. Baraban’s laboratory has active research projects on epilepsy associated with a malformed brain; epilepsy and drug discovery in pediatric models of epilepsy in zebrafish; and development of cell based epilepsy therapy using inhibitory neural progenitor cells.
Does Dravet syndrome research have greater implications for the general epilepsy population?
Why is rare disease research so important?
Are there dedicated funding mechanisms for rare disease research?
Why is private funding for research necessary and why does it make a difference?
How has private funding from DSF benefited your lab?
Dr. Alica M. Goldman, Baylor College of Medicine
Dr Goldman is a neurologist, specializing in the field of epilepsy. She and her colleagues at The Department of Neurology, Baylor College of Medicine, are conducting a research to identify genetic risk factors that predispose an individual to epilepsy and to sudden death.
Robyn Blackford, RD, Lurie Children's Hospital
Robyn is a Registered Dietician who practices in the area of the Ketogenic Diet for children with medically resistant epilepsy.
What is the ketogenic diet?
How does the ketogenic diet work?
What type of food will my child be allowed to eat on the keto diet?
Is there a lot of work involved in preparing meals for the ketogenic diet?
How will I know if the ketogenic diet is working for my child?
How do we start the ketogenic diet?
What are my Dravet child’s chances for success on the keto diet?
Are there any adverse effects to being on the ketogenic diet?
Will my child have high cholesterol while on the keto diet?
Will my child have problems with weight gain while on the keto diet?
Beth Zupec-Kania, RD, The Charlie Foundation
Beth Zupec-Kania is the Consultant Dietitian to The Charlie Foundation, with over 14 years experience of using the Ketogenic diet.
What is a dietary therapy?
What dietary therapies are available?
What is the ketogenic diet?
What is the LGIT diet?
What is the MCT diet?
What is the Modified Atkins Diet?
What is the goal of these diets?
How effective can these diets be?
Does one diet over another work better for Dravet patients?
Will my child still take AEDs, or will they be med-free on the diet?
Will my child need supplements while on these restrictive diets?
Can I start these dietary therapies for my child on my own?
How can I learn more about these diets and find a center near me?