Rare Epilepsy Leaders were everywhere in June.

Nasha Fitter and Kim Nye presented the caregivers point of view at EF's Pipeline Conference.

CZI organized a meeting where many rare leaders including Glenna Steele, Yssa DeWoody, Tracy Dixon-Salazar, Vanessa Vogel-Farley, Bina Shah, Lisa Manaster, Tonya Nash, Kim Nye, Leah Schust and other CZI grant recipients gathered.  

Global Genes 2022 RARE Drug Development Symposium welcomed Brandy Fureman, Karen Utley, Yssa DeWoody, and Vanessa Vogel-Farley.

Gabi Conecker, Tracy Dixon-Salazar, Heidi Grabenstatter, Terry Jo Bichell, Yssa DeWoody, Vanessa Vogel Farley, Priya Balasubramanian and others participated in EF's Research Roundtable.

Sincere thanks to CURE Epilepsy for the launch of their new Rare Epilepsy Partnership Award and congrats to REN partners Dup15q Alliance, International Foundation for CDKL5 Research, Koolen-de Vries Syndrome Foundation, PCDH19 Alliance, Ring14 USA, STXBP1 Foundation, and The Cute Syndrome Foundation. 

Congrats to the many Rare Champion of Hope nominees from the rare epilepsy community including individuals: Carole Bakhos, Jeff D'Angelo, Amanda Moore, Mike Graglia. Also nominated are orgs including Angelman Syndrome Foundation, IFCR, CureGRIN, and FAST. Apologies for anyone missed. The Celebration takes place 9/13/22. 

Be sure to catch Yssa DeWoody as she provides a primer on rare epilepsies on CURE Epilepsy's Seizing LIfe podcast. REN is always looking for ways to raise awareness and profile of our members and your assets! 

Epicure just issued another E-learning modules focused on rare epilepsies. This one focuses on Infantile Spasm/West Syndrome here. 

Where else are YOU raising awareness of rare epilepsies? Let REN know. 

The REN Coordinating Committee

PS: MEMBERS ONLY: Our next mtg is June 27th at 1 PM ET. 

If you are a United States NEUROLOGIST, RN or COMPLEX CARE PROVIDER - we need your feedback. Please complete the survey below and share it with other colleagues.

If you are a Patient Advocacy Group leader, we hope you will SHARE the following survey with your community neurologists,nurses, genetic counselors, complex care and other providers!

The Centers for Disease Control (CDC) and Epilepsy Foundation have funded the development of Rare Epilepsy ECHO curriculum.  Project ECHO (Extension for Community Health Outcomes) is a model created to disseminate knowledge from experts to as many care providers as possible. A Rare Epilepsy ECHO will help improve the transfer of knowledge from specialists to neurologists, nurses, genetic counselors and others on the frontlines diagnosing and managing these patients. We would like to solicit feedback from ALL HEALTH CARE PROVIDERS regarding who would be the optimal audience, gaps and solutions for care, and what content should be included in 8-10 60 minute sessions.  The vast majority of the items on the survey are checkboxes so that completing the survey should take 5 minutes or less.  The survey is available here and replies are requested by July 5.  

Questions may be directed to: Jeff Buchalter, MD buchhalterj@gmail.com or Ilene Miller, JD ilenepennmiller@gmail.com.

Upcoming conferences for Rare Leaders and Your Communities.

• 6/26 NORD's Patient & Family Forum - Living Rare, Living Stronger here
• June - July - Catch Epicure Webinars on Rare & Complex Epilepsies here
• 7/4-8 XVI Workshop on Neurobiology of Epilepsy (WONOEP 2022) here
• 7/9-13 ILAE European Congress here
• 7/11-13 World Orphan Drug Congress USA (Boston, MA) here **Free passes may be available upon request to organizers
• 7/13 SUDEP Biomarker Challenge: What did we learn here
• 7/30-7/31 Approaching Complexity in Neuroscience & Epilepsy here
• 7/31-8/5 Gordon Research Seminar: Mechanisms of Epilepsy & Neuronal Synchronization here
• 8/8-19 Everylife's Rare Across America here
• 9/12-14 Global Genes Patient Advocacy Summit here
• 9/22 Global Genes Rare Champions of Hope here
• 10/17-18 NORD Rare Summitt 2022 here
• 12/2-6 AES Annual Mtg (Nashville, TN) 

Any other conferences on your radar? Please share with info@rareepilepsynetwork.org. Disease focused scientific and patient conferences may be shared on REN's member only list-serve.  

General 

• A Potential Cure for Autism: New Research Finds that Gene Therapy Could Treat Pitt-Hopkins Syndrome (Chestnut Post)(TCF4 gene chromosome 18)
• Seizure prediction in 1117 neonates Leveraging EMR-embedded standardized EEG reporting (MedRXiv)
• Dravet Syndrome As An Example of Precision Medicine in Epilepsy (Epilepsy Currents)
• Combinations of multiple genetic factors play a role in the broad spectrum of autism (Life Sciences Medical News)
• Natural History Study of STXBP1-Developmental & Epileptic Encephalopathy Into Adulthood (Neurology)
• Bridigng the Gap Between Adolescent and Adult Care (U Cincinnati, interesting model)
• From Rare Diseases to Common Conditions, These Advances in Genetics Are Revolutionizing Neurologic Care (Neurology Today)
• **Defining Causal Variants in Rare Epilepsies: An Essential Team Effort Between Biomedical Scientists, Geneticists, and Epileptologists (European Journal of Medical Genetics)
• Previously Unknown Mutation Provides New Clues About Epilepsy (Genomics Research)(KCNA2)
•  Study Discovers An Underlying Cause for Infantile Spams and Points to Novel Therapy (Science Daily)
• Two Children with Early-Onset Strokes and Intractable Epilepsy, Both with CACNA1A Mutations (Child Neurology)
• Why we need to understand what happened to child neurology back in March 2020 (Beyond the Ion Channel)
• Four Neuroscientists win Kavli Prize for Discovering Genes Behind Serious Brain Disorders (Stat)

Industry News

• New Mobile App Giving People with Epilepsy Advanced Warning of a Seizure (7News)
• CODA Biotherapeutics Announces New Preclinical Data from Epilepsy Program Showing Significant Correlation Between Gene Expression and Efficacy (PR Newswire)

Human Interest

• Jazz Pharmaceuticals Taps Celebrity Actor and Epilepsy Advocate to Host YouTube 'Care Giver" series (Endpoints News)
• How a Remarkable Brain Surgery Freed Ava from Seizures (TSC)
• Why a New Missouri Law is Named After a Little boy from Herculaneum (Dravet)
• Cale one of eight worldwide with rare genetic disorder (Neurod2)
• When It comes to the rarest of diseases, the diagnosis isn't the answer - it's just the starting point (NAA10-related disorder)

News, publications, other resources to share? Contact info@rareepilepsynetwork.org. 

Rare Disease Days - Spreading Awareness

REN Members and Coordinating Committee are hard at work often behind the scenes and our impact and footprint continue to grow. In April, REN..

• Signed on to Senate FDA Bill to protect access to CBD; also the Defense Health Research Programs House & Senate letters 
• Fielded questions, offered assistance and/or made referrals for: U2AF2, MOGHE, FGF12, TFE3, ESES, Dravet, LGS, Morgellon's Disease, NEDAMSS/IRF2bpl. NOTE: when a request is made for a disorder where we have a REN member - we make a referral to REN member organizations. These requests come from patients/caregivers, as well as clinicians, academic partners, government, and industry. 
• Promoted participation in Rare Epilepsy ECHO survey, CANDID Survey, ELC Benchmark and Landscape Task Forces, ICARE epilepsy research initiative
• Fielded inquiries from industry re: registries, clinical trials
• convened the Multi-disciplinary work group - making good progress on clinician and patient outreach

Got Research Grants? Looking for Data? 

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Rare Epilepsy Network (REN) 

working with urgency to improve outcomes of rare epilepsy patients and families

by fostering patient-focused research and advocacy.