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Base editing for the treatment and prevention of Dravet syndrome

Ethan M. Goldberg, MD, PhD- The Children’s Hospital of PhiladelphiaDavid R. Liu, PhD- MIT and Harvard University Base editing for the treatment and prevention of Dravet syndromeResearch Grant- $250,000,  2 years Summary from the Investigators: Dravet syndrome is caused by genetic mutations in the gene SCN1A that encodes the voltage-gated sodium channel subunit known as […]

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Xu Zhang, PhD

Selective Activation of Hippocampal Parvalbumin Interneurons via Focused Ultrasound Neuromodulation for Seizure Suppression in Scn1a+/- Mice

Xu Zhang, PhD – Boston Children’s Hospital, Harvard Medical School Selective Activation of Hippocampal Parvalbumin Interneurons via Focused Ultrasound Neuromodulation for Seizure Suppression in Scn1a+/- Mice Postdoctoral Fellowship – $75,000, 1 year Recipient of the Elliot Meskis Award for an Exceptional Postdoctoral Fellow which provides a $2,500 grant supplement for professional development. Summary from the

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Petra Bencurova, PhD

Multi-Target Strategy for Dravet Syndrome: Enhancing Sodium Channels and GABA Receptors via miRNA Inhibition

Petra Bencurova, PhD; Royal College of Surgeons in Ireland Multi-Target Strategy for Dravet Syndrome: Enhancing Sodium Channels and GABA Receptors via miRNA Inhibition Postdoctoral Fellowship- $75,000/ 1 year Supported by Budgetdog, LLC Grant Summary from the Investigator: Dravet Syndrome (DS) is a rare and severe form of epilepsy in children that causes a variety of issues

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Kremer Tolner Rubinstein Goldberg

Molecular characterization of the therapeutic effect of exogenous NaV1.1

Eric J. Kremer, PhD- Institut de Génétique Moléculaire de MontpellierMoran Rubinstein, PhD- Tel Aviv UniversityElse A. Tolner, PhD- Leiden University Medical CenterEthan M. Goldberg, MD, PhD- The Children’s Hospital of Philadelphia Molecular characterization of the therapeutic effect of exogenous NaV1.1 Transformational Science Grant- $500,000 over 3 years Funding for this grant was supported by Dance

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photos of researchers for Circuit-selective Whole SCN1A Gene Delivery for Dravet Syndrome

Circuit-selective Whole SCN1A Gene Delivery for Dravet Syndrome

Boaz P. Levi, PhD- Allen Institute for Brain ScienceBryan B. Gore, PhD- Allen Institute for Brain ScienceJohn K. Mich, PhD- Allen Institute for Brain ScienceTim Jarsky, PhD- Allen Institute for Brain Science  Circuit-selective Whole SCN1A Gene Delivery for Dravet Syndrome Transformational Science Grant- $500,000 over 3 yearsThis grant funded with support from Marlins for Mason 

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2024 DSF Conference Recap

The 2024 DSF Family & Professional Conference took place June 20th to 22nd at the JW Marriott Minneapolis Mall of America in Minnesota. The meeting brought together the community of patient-families, clinicians, researchers, and industry professionals to connect, learn from one-another, reflect on progress, and discuss the outstanding needs for individuals living with Dravet syndrome

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DSF-Funded Clinico-Genomics Research Study Now Recruiting for Remote Participants

At the end of 2023, DSF announced our largest-ever grant award in the amount of $1 million directed to Ingo Helbig, MD and Ethan Goldberg, MD, PhD at The Children’s Hospital of Philadlephia (CHOP) to lead a large study aiming to collect samples from 500 patients with SCN1A-related epilepsy for whole genome sequencing. This genetic

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AI-Powered Progress: Transforming Epilepsy Care and Research with Technology

Artificial intelligence (AI) is the use of computer systems to perform complex tasks that would typically require a human to perform, such as visual perception, speech recognition, decision-making, translations, or even coming up with a title for this blog! The focus on AI continues to increase as the concept jumps out of the realm of

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Updates on STK-001: A Possible Disease-Modifying Therapy for Dravet Syndrome

There have been some exciting data releases from Stoke Therapeutics regarding their Phase 1/2a trial for the investigational therapy, STK-001, that suggest this could be the first truly disease-modifying therapy for Dravet syndrome. Results indicate significant reductions in seizure frequency and notable improvements in measures related to behavior and cognition. In addition to a recent

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Dravet Family Purple Banner

New Genetic Therapy for Dravet Syndrome Advances Towards Clinical Trials

Given the limited effectiveness of current therapies to treat Dravet syndrome and the significant burden of symptoms, much hope lies in the potential of targeted genetic therapies to treat Dravet syndrome at the root cause and modify the course of the disease. In the majority of cases, patients with Dravet syndrome carry mutations in the

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