Ever have a day where you could swear you sent the May newsletter the first week of May but suddenly you realize you never pushed send? That in a nutshell describes May. Hope you enjoy the belated May newsletter (several events which have already come to pass)...

May feels like in person conferences are back with a vengeance and REN members are working hard to make sure your voices are included at key tables.

Karen Utley will represent REN during the Upper Midwest Rare Epilepsies Conference (May 7, 9, 11). 

Several rare leaders will be leading and serving on panels during Epilepsy Foundation's leadership conference and Epicon. Shout outs to Glenna Steele, Christina SanIncencio, Monika Jones, Audrey Vernick, Tonya Nash, and Ilene Miller. 

Multiple rare leaders attending and facilitating discussions during Global Gene's Rare Drug Development Symposium

Exciting to see so many rare epilepsy leaders serving on ELC's Landscape Analysis Task Force too including Rob Moss, Vanessa Vogel-Farley, Yssa DeWoody, Mary Anne Meskis, Kim Nye, Laura Lubbers, Monika Jones, Laura Weidner, and more! Thank you for your leadership and service. 

Several rare epilepsy leaders are also participating in EF's Research Roundtable too.

Check out a new introductory blog from our friends at Cure GABRB2.

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

Safe travels and the count down 'til summer is on!

The REN Coordinating Committee

PS: Reminder NO REN members meeting in May. See you June 27th. 

Looking for key ways to engage in epilepsy research, advocacy and policy? Consider these opportunities to share insights from you and your constituents...

• Is your disorder included in the Rare Epilepsy ECHO survey? See image above! Rare Epilepsy ECHO launching in 2023! Share a brief survey with your constituents to gather information about their experience with diagnosis, treatment and care and ways we can train more health care professionals on the most pressing topics. Questions? Contact Ilene Miller at ilenepennmiller@gmail.com.

• If your community has NDD and gastrointestinal issues, help disseminate this survey   to your constituents from our friends at CANDID (Consortium for Autism, Neurodevelopmental Disorders & Digestive Diseases). This effort is led by several rare epilepsy leaders who straddle NDD, epilepsy, and autism. Also save the date for June 8-9 for the CANDID meeting. 

• Did you fund research (conferences, models, basic, translational etc) in 2020?

  ICARE, an intergovernmental initiative, is compiling funded research from all epilepsy organizations - large and small. Once entered into the ICARE research portfolio database it will help NIH, researchers and our advocacy community understand the landscape of funded research, facilitate coordination etc. Can't emphasize the importance of participating - no research funding is too small and conferences, models all count! Email   joseph.hall2@nih.gov for the template and return it to him as well. Questions or need help? contact Joseph or Miriam Leenders at leenderm@ninds.nih.gov. Also save the date for the virtual ICARE mtg, 5/26 10-4 ET. 

Upcoming conferences for Rare Leaders and Your Communities.

• 5/7, 5/9 & 5/11 - Upper Midwet Rare Epilesies Conference - Help spread the word. Hosted by Epilepsy Foundations of MN, WI, MI and Greater Chicago. More information and registration here. 
• 5/13-15 EpiCon, Empowering Persons Living with Epilepsy (Nashville, TN) here Free registration, exhibits and hotels for REN members. Contact Valerie DiCristoforo for more information: vdicristoforo@efa.org  
• 5/19-20 EF Research Roundtable for Epilepsy (RRE) (invite only) here
• 5/21-22 GETA 2022 (Australia w/ live streaming) here
• 5/26 ICARE Mtg - more info coming soon
• 6/5-6 NEW DATE EF's 2022 Pipeline Conference (and Shark Tank) (Santa Clara, CA) here
• 6/8-10 Global Gene's Rare Drug Development Symposium (Philadelphia, PA) here
• 6/26 NORD's Patient & Family Forum - Living Rare, Living Stronger here
• 7/4-8 XVI Workshop on Neurobiology of Epilepsy (WONOEP 2022) here
• 7/11-13 World Orphan Drug Congress USA (Boston, MA) here **Free passes may be available upon request to organizers
• 8/8-19 Everylife's Rare Across America here
• 10/17-18 NORD Rare Summitt 2022 here
• 12/2-6 AES Annual Mtg (Nashville, TN) 
• 5/31-6/2 Epilepsy Therapies & Diagnostics Development (ETDD XVII formerly AEDD) (Miami, FL)

Any other conferences on your radar? Please share with info@rareepilepsynetwork.org. Publicize your disease focused scientific and patient conferences on: REN Google Groups list-serve. Send a message to: ren-rare-epilepsy-network@googlegroups.com (Members Only). 

General 

• *** ILAE Classification and definition of epilepsy syndromes with onset in neonates and infants (Epilepsy) 
• Rare Variants in GABRG2 Associated with Sleep-Related Hypermotor Epilepsy (J. Neurology)
• International Consensus on Diagnosis and Management of Dravet Syndrome (Epilepsia)
• Diagnostic Yield and Treatment Changes After Genetic Testing of Adults with Epilepsy (Epilepsy Currents)
• Does Deep Brain Stimulation Work in LGS? Well...It Depends. (Epilepsy Currents)
• Spotting Rare UBE3A Mutations Can Require Comprehensive Gene Testing (Angelman Syndrome News)
• The State of Specialized Epilepsy Care in the States (Epilepsy Currents)
• Spectrum of Phenotypic, Genetic, and Functional Characteristics in Epilepsy Patients with KCNC2 Pathogenic Variants (Neurology)
• When it coms to the rarest of diseases, the diagnosis isn't the answer - its just the starting point (The Conversation) - shout out to CACNA1A
• Disease Burden in Genetic Epilepsies - Five Things to Know (Beyond the Ion Chanel)
• Zeroing in on Phenotypes While Also Broadening our Understanding of KCNT1-Related Epilepsy (Epilepsy Currents)
• No Time to Die - Avoidable Death in Epilepsy (Epilepsy Currents)(Scottish Study)
• How We Got to Where We're Going (Elements in Genetics in Epilepsy)

Industry News

• Human Testing for Praxis' lead Epilepsy Drug Held up After FDA Clinical Hold (Fierce Biotech)
• Praxis Precision Medicines shares updates on drugs in epilepsy pipeline (Press Release) >SCN2A, SCN8A, TSC, Syngap, PCDH19 

Human Interest

• Facing Rare Diagnosis, family works to develop treatment for their toddler (Denver 7 ABC) > Alternating Hemiplegia of Childhood (AHC)

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..

• fielded questions and made referrals re: PDE, FRRS1L, Rasmussen's, Dravet, LaFora, CACNA1A, SCN1A, peri-ictal water drinking (PIWD) & PCDH19. 
• promoted participation in Rare Epilepsy ECHO survey, CANDID Survey, ELC Benchmark and Landscape Task Forces, ICARE epilepsy research initiative
• identified speakers and promoted MW Rare Epilepsy Conference
• fielded inquiries from industry re: registries, EpiWatch
• met with other coalitions - Rare & Ready, NICU parent network
• convened the Multi-disciplinary work group

Got Research Grants? Looking for Data? 

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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.