Dravet Syndrome Foundation

The Dravet Syndrome Foundation (DSF) is a volunteer run, non-profit organization based in the United States. The mission of the foundation is to aggressively raise research funds for Dravet's syndrome and related epilepsies, while providing support to affected individuals and families. The Dravet Syndrome Foundation is listed as a research and support organization on National Organization of Rare Diseases's (NORD) database.^[1]

History

The Dravet Syndrome Foundation was founded by parents with the purpose of expediting research to find a cure and better treatments for their afflicted children.^[2]^[3] It was established in the state of Connecticut and was designated a tax-exempt public charity in the United States in September 2009 by the Internal Revenue Service under Section 501(c)3.

Programs

In accordance with their mission, the Dravet Syndrome Foundation focuses its work in four areas: Research Grants; Research Roundtable; International Ion Channel Epilepsy Patient Registry (IICEPR); and the International Patient Assistance Grant (PAG) Program.

Research Grant Program

Grants are offered for research projects directly related to Dravet syndrome and associated epilepsies. These grants fund initial research hypotheses that have not been fully explored. The results extracted from this type of research will help bring untested research to the point that it can qualify for larger governmental funding. Research applications are judged principally on novelty of the hypotheses, innovative approaches with a direct relevance and application to Dravet syndrome and related conditions, scientific quality, strength of approach, and likelihood of success.

Research Roundtable

This annual meeting allows researchers, geneticists, neurologists, and other professionals with a strong interest in Dravet syndrome and related epilepsies to establish a “research roadmap”. By allowing this consortium of specialists to establish a plan, the Dravet Syndrome Foundation can facilitate the development and implementation of better treatments by funding research projects that address the critical challenges of this syndrome and which will offer the most promising breakthroughs at the fastest pace possible. This meeting takes place each year just prior to the commencement of the American Epilepsy Society (AES) Conference.

International Ion Channel Epilepsy Patient Registry (IICEPR)

This registry (co-funded with ICE Epilepsy Alliance) is owned by University of Michigan Neurology Department and Miami Children's Hospital Brain Institute but is available to all interested researchers. It will collect basic information and genetic test results of individuals with Dravet syndrome and related epilepsies worldwide. The establishment of this registry will expedite future clinical trials and will serve to improve communication of ideas amongst interested researchers, as well as assure rapid distribution of any new information that may benefit patients and their families. The website for registration for the registry is www.iicepr.org.

International Patient Assistance Grant (PAG) Program

This program offers grants to patients with Dravet syndrome and associated epilepsies for necessary medical equipment needs associated with these conditions that are not covered through private insurance or other assistance programs.^[4]

Scientific Advisory Board

The Dravet Syndrome Foundation’s Scientific Advisory Board (SAB) oversees the organization's research activities. They review and approve all research grant applications and meet annually with other interested researchers and scientists to discuss innovative and promising research in the field of Dravet syndrome and associated epilepsies.

Board Chair

Jack M. Parent, MD, University of Michigan Medical Center, Ann Arbor, Michigan

Board Members

Scott Baraban, PhD, University of California, San Francisco, San Francisco, California
Lori Isom, PhD,University of Michigan Medical Center, Ann Arbor, Michigan
Sookyong Koh, MD, PhD, Children's Memorial Hospital, Chicago, Illinois
Miriam Meisler, PhD, University of Michigan Medical Center, Ann Arbor, Michigan
Linda Laux, MD, Children's Memorial Hospital, Chicago, Illinois
Annapurna Poduri, MD [1], Boston Children's Hospital, Boston, Massachusettes

Fundraising

In addition to private donations, private fundraising events, corporate sponsorships and grants, the Dravet Syndrome Foundation produces two major annual fundraising events: Ciara's Butterfly Bash and Steps Toward A Cure.

Ciara’s Butterfly Bash is the Dravet Syndrome Foundation's annual signature event where money is raised for research while honoring a professional who has gone above and beyond in the field of Dravet syndrome and related epilepsies. It is held each March in Greenwich, Connecticut. In 2011, over $125,000 was raised for research in one evening. Steps Toward A Cure consists of family-friendly fundraising walks, as well as the RACRE series of fundraising half-marathons.^[5]^[6] In 2010, over $165,000 was raised for research at nine walk locations across the U.S.^[7]^[8]

Delegations

In 2011, a group of parents formed a delegation of the Dravet Syndrome Foundation in Spain (DSF Spain). Both organizations share the same mission and work closely together, but have separate Boards of Directors and Scientific Advisory Boards. DSF Spain will be announcing its first research grant award in Summer 2011.

Dravet Syndrome Foundation Spain

Partner Organizations

The quickest way to a cure for a rare disease such as Dravet syndrome is by uniting families and researchers in a global collaboration. The Dravet Syndrome Foundation works with the following like-minded organizations to assure rapid distribution of information and to avoid duplication of efforts and research dollars.

Research Projects Funded by the Dravet Syndrome Foundation

2010

Sookyong Koh, MD, PhD, Novel Therapies to Block Epileptogenesis in Dravet Syndrome Mice ^[3]^[9]
Sebastian Maier, MD, PhD and Massimo Mantegazza, PhD (co-funded with CURE), Cardiac arrhythmias and SUDEP in SMEI and other Nav1.1 (SCN1A) related epilepsies ^[10]
Jack M. Parent, MD, and Ian Miller, MD (co-funded with ICE Epilepsy Alliance), International Ion Channel Epilepsy Patient Registry (IICEPR) ^[11]

2011

Jack M. Parent, MD, Readthrough Treatment of Dravet Syndrome Caused by Nonsense SCN1A Mutations ^[12]^[13] (listed under UMMS Awarded External Grants, Neurology)
Scott Baraban, PhD (co-funded with CURE), Gene profiling and high-throughput drug screening in zebrafish model of Dravet syndrome

2012

Jingqiong “Katty” Kang, MD, PhD, Probing synaptic changes in a novel mouse model of severe epilepsy with nanoparticle-enabled 3D super-resolution imaging (co-funded with CURE)
Annapurna Poduri, MD, MPH, Genetics of Severe Early Onset Epilepsies (Phase 2)

2013

Michael Hammer, PhD, Identifying modifier genes in patients with SCN1a haploinsufficiency using whole exome sequencing
Se Hee Kim, MD and Linda Laux, MD, Predictive Factors for Long-Term Cognitive Outcome in Dravet Syndrome
Yvonne Wu, MD, MPH, Incidence and Predictors of DS: A Population Based Study
Jokūbas Žiburkus, PhD, Adenosine A1 Agonist Control of Seizure Activity in Dravet Syndrome
Annapurna Poduri, MD, MPH, Genetics of Severe Early Onset Epilepsies (Phase 1) Annapurna Poduri, MD, MPH

References

External links

[1] ttp://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Dravet%20Syndrome

[2] ttp://findarticles.com/p/articles/mi_go2827/is_6_40/ai_n56366361/

[heroesforlife-3] ttp://www.heroesforlife.org/site/PageServer?pagename=oh_pf_ciara&collapse=0

[4] ttp://www.bendigoadvertiser.com.au/news/local/news/general/mia-mias-online-angel/2078610.aspx

[5] ttp://runrocknroll.competitor.com/philadelphia/charity

[6] ttp://runrocknroll.competitor.com/providence/charity

[7] ttp://thetimes-tribune.com/news/steps-toward-a-cure-walk-a-thon-set-for-sept-25-1.1019949#axzz1KM2XNhQN

[8] ttp://www.highbeam.com/doc/1N1-132BB429A78D4650.html

[9] ttp://www.dsfnewsletter.com/Dr_0OLZ.html

[10] ttp://www.cureepilepsy.org/research/current.asp

[11] ttp://www.dsfnewsletter.com/August_2010_Newsletter.html

[12] ttp://www.dravetfoundation.org/pdfs/ParentGrantAnnouncement.pdf

[13] ttp://www.med.umich.edu/medschool/research/researchnews/

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