You can listen to the discussion during the Future of RDCA-DAP and the Patient Voice Workshop (https://youtu.be/G6FPiIeQFlU) from 17:00-30:00 where the presenter demonstrated learnings from comparing the KAND/KiF1a dataset with REN’s databases. REN is one of 25 registries on the platform alongside several other rare epilepsies including: TSC, Angelman, KIf1A, LGS, and Sturge Weber.

By way of background, RDCA-DAP was established through a partnership between Critical Path Institute (C-Path),  National Organization for Rare Disorders (NORD®) and the U.S. Food and Drug Administration (FDA) and has grown to include dozens of collaborations between a variety of stakeholders throughout the rare disease community. The platform serves as a centralized and standardized infrastructure to host integrated and shared data and to support and accelerate rare disease medical product development. This in-person and livestream event for rare disease stakeholders featured expert presentations, panel discussions, platform demonstrations, and was attended by more than 200 patients, researchers, clinicians, biopharmaceutical company representatives, regulatory reviewers and scientists. Another example of REN raising awareness of the rare epilepsies to broader audiences.

Also, REN is thrilled to welcome new member The Global Foundation for Peroxisomal Disorders (GFPD) www.thegfpd.org.

We take member feedback to heart and it was nice to recently receive the following message, “I wanted to thank you for these newsletters as they are packed with helpful information!” 

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

The REN Coordinating Committee

PS: MEMBERS ONLY: Our next mtg is October 31st at 1 PM ET. 

In this section, learn about funding, grants, opportunities, apps and more...

Help publicize the 2023 Shark Tank Competition. The Epilepsy Study Consortium, in collaboration with the Epilepsy Foundation, is inviting entries that represent the most innovative new ideas in epilepsy treatment and care for the annual Shark Tank Competition. The winner(s) of the 2023 Shark Tank Competition will receive international recognition and compete for awards totaling up to $75,000 to support the development and commercialization of an important new product, technology, or therapeutic concept to help people with epilepsy. The deadline for submitting a Letter of Intent (LOI) is December 31, 2022. The Shark Tank review committee will select as many as five (5) finalists. All finalists will be invited to present their product concepts or candidates at the 2023 Epilepsy Therapy and Device Development Conference, scheduled for May 31 to June 2, 2023.  Learn more here.

Everylife Foundation's RareGiving deadline is 10/28. More info here. Rare Giving supports events, tools and resources (translation, surveys, ICD codes) and more.

Introducing a new app - Mejo. Mejo is a free caregiver app that saves time and gives peace of mind by simplifying, organizing & sharing  medical and care info. As an early-stage startup created by 2 Rare Dads, Mojo's founders are looking for families within REN to help them better understand the needs of a Rare caregiver. If you are interested in participating in this collaborative effort, please email us at caregiver@mymejo.com.

Raising Awareness of New Initiative - 5 Voices. REN CC is excited to announce that we will be working on a workflow with Maryna Kolochavina on her 5-Voices Initiative in conjunction with C-Path. See press release here. A letter to REN members with more details is forthcoming. 

REN is a part of @Rare_Ready who launched a new website at www.rareandready.org. Rare & Ready is a Genetic Condition Coalition that believes state policies must make sure that patients with rare or genetic conditions can get the care they need including access to new FDA-approved therapies and mitigating state Medicaid program hurdles that limit access.

Upcoming conferences for Rare Leaders and Your Communities.

• 10/12-15 Child Neurology Society (Cincinnati, OH) here

• 10/17-18 NORD Rare Summitt 2022 (Washington, DC) here

• 10/19 SUDEP Action Day — Join Partners Against Mortality in Epilepsy (PAME) including Epilepsy Foundation, Danny Did Foundation, CURE Epilepsy, American Epilepsy Society, Canadian Epilepsy Alliance, and Dravet Syndrome Foundation — by staring a conversation about SUDEP and risk prevention. 

• 10/31-11/2 Epilepsy Awareness Day at Disneyland (EADDL): For those unable to attend, LGS has extended an invite to REN members to share information. Contact Jen Griffin for more info: jen@lgsfoundation.org

• 11/2-3  Forum on Neuroscience and Nervous System Disorders Sleep Disturbance in Central Nervous Disorders Workshop (Washington, DC)

• 11/9-10 2022 Rare health Equity Summit Agenda by Global Genes and Rare Disease Diversity Coalition (RDDC)(Atlanta, GA)

• 12/2-6 AES Annual Mtg (Nashville, TN) here

• 2/28-3/2 Rare Disease Week on Capital Hill By RDLA/Everylife here

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 

• The 2022 STXBP1 Summit – a personal reflection (Beyond the Ion Channel)

• CURE Epilepsy Discovery: Developing Precision Medicine Treatments for Genetic Epilepsies: Present Challenges, Recent Scientific Advances, and Future Prospects (CURE Epilepsy)

• Surviving the Storm – Surviving Status Epilepticus ( Epilepsy Currents)

• Overview of Myocloinc Astatic Epilepsy Known as Doose Syndrome (Healthline)

• Can a Mouse Help Us Unravel the Mysteries of CDKL5-Related Epilepsy? (Epilepsy Currents)

• Language and Epilepsy: A Systems Issue (Epiepsy Currents)

•  How HBP is changing the way we treat epilepsy

• Time Is Brain: The Importance of an Accurate SCN1A Prediction Score in the Era of Precision Medicine (Epilepsy Currents)

• The State of Specialized Epilepsy Care in the States: Increased Access, New Tools, but the Same Dismal Underutilization of Epilepsy Surgery (Epilepsy Currents)

• Open the Window for the Cure of Dravet (Epilepsy Currents)

• CHOP Study Explores the Use of Telemedicine in Child Neurology in Largest Study to Date (CHOP)

• Neurology Live: Episode 72: Updates in Epilepsy Treatment (Neurology Live)

• Tracking down the causes of rare diseases in children (Eureka Alert)

• Diagnostic Yield and Treatment Changes After Genetic Testing of Adults With Epilepsy (Epilepsy Currents)

• SNOMED and International League Against Epilepsy collaboration will raise the clinical quality of epilepsy terminology

• Rare Disease Report Podcast: CDKL5 Deficiency Disorder and Expert Interview

• Scientists Have Identified a Brain Cell That Makes Humans Special. But It Also Leaves us Vulnerable to Schizophrenia, Autism, and Epilepsy (Yahoo) (FOXp2)

• CURE Epilepsy Discovery: Brain Aging in Childhood-Onset Epilepsy: A Long-Term, Population-Based Study (CURE Epilepsy)

   

Industry News

• Invitae's Real-World Ciitizen Data Utilized in Praxis Precision Medicines' PRAX-222 IND Filing (PR Newswire)

• Neurona Therapeutics Presents Clinical Case Study from First Human Trial of Regenerative Cell Therapy, NRTX-1001, in Adults with Drug-Resistant Focal Epilepsy (Yahoo)

• Praxis Precision Outlines Upcoming Plans For Pediatric Epilepsy Programs

   

Human Interest

• Loyola volleyball player survives rare neurological disorder FIRES

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 September....

• REN's list-serve was especially active with inquiries regarding: recommendations for seizure trackers, hiring Executve Directors, dental support resources, disposal of unused medicines, how to get added to a gene panel, resources for SUDEP speakers for disorder community, emergency preparedness in multicultural communities, Texas in home care options, and more

• REN also helped to publicize new movies “Holding Moses” and “Unseen: How We're Failing Parent Caregivers & Why It Matters” https://youtu.be/kykQIaTMnoM

• REN brochures were distributed and shout outs for REN at the Seattle Pediatric conference and Nationwide Children’s Hospital

• REN made introductions to industry partners to specific disorder members.

• We promoted REN participation in the ELC Task Force webinars.

• Fielded questions, offered assistance and/or made referrals to REN members; new inquiries for UFAT2 and CSNK2b. Referred patients to Member organizations and other resources including EF's 24/7 Helpline.

• Disseminated information about FDA's Patient Engagement Collaborative (PEC).

• REN's Coordinating Committee signed onto and disseminated for other members to join as well:

  • FY23 Appropriations supporting specific funding levels for epilepsy-related research and programs in the federal budget, as Congress begins to think about final funding levels for the FY 2023 spending bills.

  • Inchstones Comments to FDA calling for increased awareness and attention to the unique measurement challenges for those most severely affected by the DEEs and other neurological disorders.

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.