RESOURCES FOR PROFESSIONALS

Thanks to donors from all over the world, the FamilieSCN2A Foundation is able to help fund research to better understand SCN2A, find effective treatments and work toward finding a cure! We are excited to be able to award grants toward research and provide information on other grant programs available.

SCN2A International OT Database Registration

Are you an Occupational Therapist who's sees a child or children with SCN2A? Please consider participating in this international database so we can begin to define parameters of best practices to ultimately measure effectiveness of therapy and determine multiple ways of supporting children diagnosed with SCN2A.

 OT Database


Our requests for applications (RFAs) serve a critical function in helping us fulfill SFARI’s mission (“to improve the understanding, diagnosis and treatment of autism spectrum disorders by funding innovative research of the highest quality and relevance”). These open calls for scientific proposals are SFARI’s opportunity to consider some of the research community’s most creative and impactful ideas.

 Application for SFARI Grants

Thank you to all whom submitted an application for our Take Action; Create Potential Grant. The application process is now closed for 2019 and we have chosen our grant recipients. Through our investigator-initiated grant program, the FamilieSCN2A Foundation hopes to accelerate the development of therapeutic treatments and disease-modifying advancements for those living with changes in the SCN2A gene. This grant program is designed to facilitate preliminary investigations that will potentially lay the groundwork for subsequent grants from the government, industry, or other funding sources, including the FamilieSCN2A Foundation.

Announcing the 2019 Action Potential Grant Awardees:

Sunita Misra, MD, PhD

Northwestern University / Lurie Children’s Hospital

★ $50,000 – Research Grant (1 year project)

★ Downstream Effects of SCN2A-Related Epilepsy

SCN2A dysfunction changes the way brain cells communicate both electrically and chemically leading to epilepsy and neuropsychological comorbidities. I will use EEG to identify seizure patterns and the role of sleep on seizures in a new mouse model of SCN2A-related epilepsy. Then I will look at neurotransmitter levels in the brains of mice with SCN2A-related epilepsy. I will use drugs that target the abnormal neurotransmitter levels to improve abnormal electrical and chemical signaling in the brain. This work may identify new druggable targets for better control of epilepsy and associated comorbidities in SCN2A-related epilepsy.

Caitlin M. Hudac, Ph.D., Research Scientist

The Bernier Lab, University of Washington

Department of Psychiatry and Behavioral Sciences

★ $50,000 – Research Grant (1 year project)

★ SCN2A Neural Biomarkers of Attention

Aligned with the #FamiliesSCN2AFoundation mission to improve the lives of those affected by SCN2A-related disorders, this project aims to generate a candidate biological indicator (“biomarker”) that can be used to track changes in children with SCN2A disruptive mutations. This will be critical for developing and assessing the effectiveness of clinical interventions. For this project, 20 children with disruptive SCN2A mutations will wear an electroencephalography (EEG) net while watching movies. We will test an auditory attention brain biomarker and characterize how these brain responses to sounds relate to other aspects of the child’s behavior.


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The FamilieSCN2A Foundation works to create, and seeks to enhance a landscape that encourages investment in research by all stakeholders. This includes actively engaging and collaborating with pharmaceutical and biotech companies. The following requirements will help to ensure the highest level of ethical conduct is followed in the organization’s collaborations with these for-profit companies. The goal in engaging companies is to enable the development of therapies to meet patient needs while maintaining independence and neutrality as a patient organization.

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Company Engagement:

  • Board Members and members of the Scientific Advisory Committee will disclose any and all relationships with companies with whom the organization engages and will annually sign a statement agreeing to the organization’s Conflict of Interest Policy.
  • The organization will collaborate with companies, at its discretion and in consultation with its scientific advisors, which are conducting ethical, high-quality research in a responsible manner, according to industry and international regulatory standards.
  • The organization will actively seek the guidance and utilize the expertise of its Scientific Advisory Board throughout the process of working with each company.

Data Collection:
The FamilieSCN2A Foundation strongly advocates that all data about a family's medical history, genetic mutation, and all bio-specimens collected (DNA, cell lines, etc) should be in 'pre-competitive' space and should be freely available to any qualified researcher.

This practice helps to amass a large number of families with relevant medical information, which is critical to make progress on any rare disease. It is a strategy used by many other groups and is strongly endorsed by Simons VIP Connect (and made possible by their data platform). This ensures that any researcher with a good idea will be able to design experiments and potentially develop treatments. We are committed for the long term to make all de-identified data and samples available to the research community to make it easier for more scientists to work to find treatments for families. We strongly believe this arrangement is in the best interest of families and the entire SCN2A Community.

Patient Engagement:
To avoid any potential appearance of conflict of interest, Board Members, who have a fiduciary responsibility to the organization and direct the acceptance and use of funds provided by pharmaceutical companies, should not testify at regulatory hearings. Patients and members of the community with a connection to the pharmaceutical company, such as relatives of an employee or owners of stock in the company, should also not testify at hearings.

Financial Contributions:
The organization can accept donations from pharmaceutical companies; however, Board Members and staff may not receive honoraria to speak on behalf of the organization. Travel expenses incurred to participate in disease-awareness activities may be reimbursed directly to the individual or the organization.

Clinical Trial and Approved Therapy Communication:

  • The organization will disseminate accurate, fair and balanced information about clinical trials provided by a pharmaceutical or biotech company without additional commentary or opinion that may influence an individual’s decision to participate in a clinical trial or that may change the meaning of the information.
  • The organization does not communicate information in a manner that could be interpreted as advertising or promoting a drug or treatment that has not been approved.

The FamilieSCN2A Foundation recognizes the need for open lines of communication, connecting scientists, and forming partnerships with doctors, researchers, and patient organizations which help avoid duplication of efforts. We partner with organizations who share our priorities of finding effective treatments and a cure, and who share our integrity and values that support our mission. Global collaboration will get us closer to a cure of SCN2A related disorders.

Advocacy organizations, medical partners, industry or other parties interested in partnering with The FamilieSCN2A Foundation can contact Leah Schust, President and Founder, for more information.

SCN2A Anonymous Data Collection Survey

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Ways To Contribute

Whatever you decide, please let us know. We are here to support you with ideas, resources and more. Check out the FamilieSCN2A Fundraising Page on facebook to see how others have helped.

FUNdraising

FUNdraising is not only about money, it also raises public awareness of SCN2A and the issues around rare diseases in general.

Raise Awareness

Share your story with friends and family, in private and/or through social media. Share our website with them.

Donate

Make a tax deductible donation directly to the FamileSCN2A Foundation to be used for raising awareness, research and supporting families

Raise Funds

Sign up with Amazon Smiles and iGive, automated programs that donate a portion of online sales to charity.

FirstGiving

Set up your own ‘First Giving’ page through the foundation to collect online donations.

Have a Party!

There are many direct sales vendors who would be happy to do a fundraiser for you.

Our goal is to find a cure!

Did you or your child just receive a new diagnosis of SCN2A? If so, please know you are not alone!