November kicks off National Epilepsy Awareness Month (NEAM). Calling all REN Member organizations to help raise awareness of the rare epilepsies too! Share REN's badge and blog below. Share key facts about your disease (incidence, prevalence, burden). So many ways we can individually and collectively ensure the public is rare epilepsy aware! Lots of congrats to share including ringing bells on Wall Street, more CZI grant recipients, and so much more. As always, share your raves and rants plus updates, news, etc to info@rareepilepsynetwork.org. NINDS launches network to develop treatments for ultra-rare neurological diseases. Nina F. Schor, Amir P. Tamiz, Walter J. Koroshetz launchNINDS Ultra-Rare Gene-based Therapy (URGenT) Working Group here.
Excited for 9 rare epilepsy organizations (7 who are also REN members) who each received funding from Chan Zuckerberg here including 3 year $600k grants to: CACNA1A, Chelsea's Lafora, Families SCN2A, PACS1, and TBCK Foundation and 1 year $50k grants to CSNK2A, Hope for HH, International SCN8A and SLC6A1.
Shout out to Rare Champions of Hope (Foundations, Individuals) and Rising Star nominees from our community including Project 8p, DDX3X, CureGRIN Foundation, Hillary Savoie, Amber Freed, and Leah Schust Myers. Good luck on Nov. 18th. Streaming here.
REN MEMBERS ONLY. Please Save the Date for REN Membership Lunch @ AES, Saturday, Dec. 4 Noon to 1:30. Please RSVP for lunch, literature display, and REN priorities if you have not.
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Events for Rare Leaders and your constituents: UPCOMING: - 11/10 CNF's Knowing the Name of a Gene Can End Your Diagnostic Odyssey and Begin the Search for Treatment here
- 11/15 Part 3 of Dravet Syndrome Foundation's - Caring for a Loved One with Developmental and Epileptic Encephalopathy: Harnessing the Power of Knowledge to Enhance Diagnosis, Reduce Seizures, and Improve Overall Quality of Life here
- 12/2 Partners Against Mortality in Epilepsy (PAME) Conference here.
- 12/3-7 AES 2021 Chicago, IL. Register here for a booth in Epilepsy Resource Area.
- 12/7 9:15 CST Hear Dr. Christopher Austin (former Director of NCATS) join a panel to discuss overcoming systemic barriers to translating research here
- 2/22-3/3 EveryLife's Virtual Rare Disease Week on Capitol Hill here
- 3/3-5 EF's 2022 Pipeline Conference (and Shark Tank) (Santa Clara, CA)here
- 5/13-15 EpiCon, Empowering Persons Living with Epilepsy (Nashville, TN) here
In case you missed the recent Curing the Epilepsies webinar on key learnings, reflections and next steps, the link is here. Any other conferences on your radar? Please share with info@rareepilepsynetwork.org. Also, got a conference for your specific diagnosis? Want to invite colleagues from other PAGs to observe? Member: Feel free to post information/invites on REN Google Groups list-serve. Send a message to: ren-rare-epilepsy-network@googlegroups.com (Members Only). |
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#RareEpilepsies - NEAM + Awareness Days. |
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November celebrates National Epilepsy Awareness Month. Share REN's badge (below) and blog with your constituencies. November also raises awareness for Lennox-Gastaut Syndrome, FOXG1, Cardio-Facio-Cutaneous Syndrome, PCDH19, Aicardi, Schinzel-Giedion Syndrome and 15q (including Dup15q, Angelman and Prader-Wili). Tag our friends and help spread the word! #rareepilepsies #rareaware #rareepilepsyaware #NEAM #morethanseizures |
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REN is frequently contacted by families and professionals as new diagnosis are discovered and people are seeking community. We do our best to identify organizations and support groups and even connect families to each other. Shout out to Cathleen Cooney at Epilepsy Foundation who is incredibly helpful in finding supports for families. A few recent inquiries include the following diagnoses. If you are aware of organizations supporting these diagnosis or other families seeking to connect, contact REN. - ASAH1
- Epilepsy of Infancy with Migrating Focal Seizures (EIMFS)
- FGF12 Exon 1-4 Tandem
- GABRA2
- hk1 nedviba (10q22.1)
- MEAK Mutation
- MELAS (Mitochondrial Encephalopathy lactic acidosis, and Stroke Like Symptoms).
- NPRL3
- PRRT2
- STAG2
- SPATA5
- YWHAG
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- Partnerships to Expand Effective Gene Therapies for Rare Diseases by Francis Collins, NIH Dir, 2021
- FAST, ASF, Dup15q and FPWR Unite to Fund Newborn Screen Grant
- Using Drosophila Models to Understand Patient-Specific Genetic Seizure Disorders, UC Irvine 2021
- Neonatal Seizures: Providing Care With Evidence, Not Just Experience, Epilepsy Currents 10/21
- Genetic Testing Valuable in the Clinical Management of Epilepsy (Invitae Funded Study) 10/21
- Somatostain-positive Interneurons Contribute to Seizures in SCN8A Epileptic Encephalopathy, J. of Neuroscience 9/21
- How Virtual Epilepsy Clinics Could Help Save the Planet
- Rare-X, Global Genes to Help Collect Rare Disease Patient Data
- Proceedings of the 2020 Epilepsy Foundation Pipeline Conference: Emerging Drugs & Devices , Epilepsy & Behavior, Dec. 2021
- Burden of Chronic and Acute Conditions and Symptoms in People with Epilepsy (Neurology, 2021)
- Expanding the genetic and phenotypic spectrum of CHD2-related disease. (Am J Med, 2021)
News, publications, other resources to share? Contact info@rareepilepsynetwork.org. |
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Key Resources @ Your Fingertips. |
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Doing our best to track advocacy, policy and regulatory initiatives that impact rare epilepsy stakeholders. A few REN weighed in on and/or shared with Members. |
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Recruiting for Research & KOLs. |
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Give voice to rare epilepsies! Help recruit patients and caregivers for academic research. Lend your point of view to critical stakeholder tables. Opportunities for your PAG and constituents follow. Click each box to learn more! |
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We are tracking therapies in the works for rares. Aware of others? Let us know. |
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Got Research Grants? Looking for Data? |
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The REN registry includes data for 1459 patients across 40 diseases! Help promote the REN registry data to your researchers and clinicians. Your outreach is important whether your disease participated in the original registry or not. Download the Registry Tool Kit and images and help spread the word via email, newsletters and social media! |
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The Epilepsy Research Connection (ERC) is a repository of epilepsy research funding opportunities from non-profit and government organizations. Investigators can also register to receive new funding announcements. If your organization is interested in posting a grant notice on the Epilepsy Research Connection, please contact info@epirc.org for instructions. |
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Visit our Website | Become a REN Member | Follow Us on Twitter Share news, information and more to info@rareepilepsynetwork.org Rare Epilepsy Network (REN) working with urgency to improve outcomes of rare epilepsy patients and families by fostering patient-focused research and advocacy. |
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