The summer (and somewhat slower pace) always passes too fast. September brings back to school traditions and a slew of conferences. This newsletter is chock full of content. A few highlights as you dig in: - REN's next membership meeting is slated for Sept. 27 @ 2PM ET with a pre chat at 1:30 PM for those who want to join. We have a fantastic line up of guests this fall.
- Warm welcome to new REN members Glut1 Deficiency UK and NR2F1 Foundation.
- Sincere thanks to REN's summer high school interns - Emily Owens (10th) and Eva Sola-Sole (11th) who updated our website, created great heritage blogs and badges and so much more. You will see the fruit of their efforts throughout the fall and beyond.
- September kicks off Spanish Heritage month. Urge you to publicize Rare Epilepsy Resources in Spanish blog (below) and a Spanish Facebook Live hosted by Epilepsy Foundation on 9/28 featuring Monika Jones on Epilepsy Emergencies & Seizure Safety.
- Kudos to REN members IFCR, Glut1, Rasopathies, STXBP1, and SRF partnering with the Orphan Disease Center (ODC)'s 2021 Million Dollar Bike Ride Pilot Grant Program.
Happy reading! We we appreciate your feedback on how we can improve this monthly newsletter to: info@rareepilepsynetwork.org. |
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Spanish Resources for You to Share. |
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September 15 to Oct. 15 celebrates National Hispanic Heritage Month. More than 710000 Hispanics live with epilepsy in the US. Despite its prevalence, many people in the Hispanic community do not fully understand epilepsy. We have compiled a list of Spanish Language resources for rare epilepsies that we hope you will distribute broadly here. Spanish translated blog coming soon. Shout outs to The Brain Recovery Project, Glut1, SRF, Dravet Spain, and more. Let us know if you have additional resources to add. We will post a badge with links to the above on REN's channels Sept. 15-Oct. 15. We hope you will share it! Also encourage you to invite your Spanish speaking constituents to join a Facebook Live on Epilepsy Emergencies and Seizure Precautions featuring advocate and caregiver Monika Jones (Brain Recovery) and Dr. Karen Skjei hosted by Epilepsy Foundation on Sept. 16 in English at 4 PM ET and September 28 in Spanish at 4:00 PM ET. |
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REN's Website is Updated. |
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REN has multiple communications channels including our recently updated website, Google Group list-serve, Twitter, and YouTube Channel. All of these channels are public except for our Google list-serve which is reserved for REN Members as well as academic and government friends of REN. Check out our recently updated website with resources for you and your constituents. We have added a "members only portal" where we can store meeting minutes and recordings, as well as other key shared but non public documents. |
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A list of meetings for Rare Leaders and your constituents follows to attend and promote: UPCOMING: PAST: - If you missed the Annual Virtual International Epilepsy Congress (IEC), there were several rare relevant programs you may want to take in afterwards. The program is here. A few talks that stood out included: Key aspects of transitioning your patients from pediatric to adulthood care (Dr. Andrade, 8/28); What's New in Epilepsy Syndromes (Drs. Wirrell and Tunuper, 8/29); DEEs (Drs. Scheffer, Nabbout, & Cross, 8/29); International Classification of cognitive disorders in epilepsy (Drs. Hermann & Wilson, 8/31); Clinical Practice Guideline Workshop (9/1)
- Navigating Newborn Screening: Why Early Detection And Diagnosis Are Crucial?
The Diagnostic Odyssey - Rare Disease Parent Bootcamp 1 with REN Member Amber Freed 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? Feel free to post information/invites on REN Google Groups list-serve. Send a message to: ren-rare-epilepsy-network@googlegroups.com |
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#RareEpilepsies - Awareness Days. |
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Also, September celebrates several rare epilepsies: STXBP1 raises awareness of this rare epilepsy in September. 9p Minus Awareness Day is on September 9. Hypothalamic Hamartoma Awareness month is September. |
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Doing our best to track advocacy, policy and regulatory initiatives that impact rare epilepsy stakeholders and taking a stand. A few we weighed in on and upcoming. |
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Recruiting for Research & KOLs. |
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Help recruit patients and caregivers for academic research and other opportunities to give voice to rares as key opinion leaders at critical stakeholder tables. Opportunities follow for YOU and your constituents. |
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| | NEW -- Consider participating in a confidential survey led by researchers at University of British Columbia. This initiative seeks to help researchers understand parent and caregiver decision-making around neurotechnologies like VNS, DBS and others. Thanks Brain Recovery Project for the invite. | | |
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| | NEW--The Epilepsy Genetics Research Program at Toronto Western Hospital invites REN members to participate in a study that aims to understand the adult outcomes of developmental and epileptic encephalopathies. We are looking for patients (18 years+ old) who have epilepsy caused by: STXBP1, SCN2A, SCN8A, PCDH19 and CHD2. To learn more, please watch our video explaining our study. If you wish to participate, please contact our Research Coordinator, Marlene Rong at marlene.rong@uhnresearch.ca. | | |
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| | Help Sydney Children's Hospital Network clinical genetic epilepsy and neurogenetics research group disseminate a short survey to your US and international patient/caregiver community networks to gather feedback on videos developed to provide psychosocial support to parents of children with genetic epilepsies. | | |
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| | Toronto Western Hospital Epilepsy Genetics Research Program invites REN members to participate in a survey on “Perception of transition from pediatric to adult healthcare system in patients with epilepsy” headed by Dr. Danielle Andrade at the Toronto Western Hospital. | | |
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We are tracking therapies in the works for rares. Aware of others? Let us know. - Epygenix Therapeutics, Inc., announced that the company's Argus trial with EPX-100 (Clemizole Hydrochloride) in patients with Dravet syndrome (DS) has been approved by Health Canada. Press release here.
- European Medicines Agency Grants Marinus Pharmaceuticals Accelerated Assessment of Ganaxolone for Treatment of CDKL5 Deficiency Disorder here
- GW Pharmaceutical/Jazz receives UK MHRA approval for cannabidiol for seizures associated with TSC for patients 2+ here
- The European Commission has granted Orphan Drug designation to Taysha Gene Therapies Inc's TSHA-105, AAV9-based gene therapy for SLC13A5-related epilepsy here
- Zogenix receives orphan drug designation for Fintepla in Japan here.
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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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Keep In Touch | Become a REN Member | Join our List-serve | Follow Us on Twitter Share news, information and more to info@rareepilepsynetwork.org Rare Epilepsy Network (REN) working with urgency to collaboratively improve outcomes of rare epilepsy patients and families by fostering patient-focused research and advocacy. |
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