Gratitude... We begin this newsletter with an email we recently received from a REN Member who shared:

"I just wanted to drop a note and say thank you and the work you and the REN team does is outstanding. What you do is an invaluable resource. Through one of your posts (about a year ago) I made contact with a researcher and she has been an irreplaceable asset and shares such a passion for our foundation. She has made it possible to help get connections and get research done for our ultra rare disease." - Andrew Miner, YWHAG Foundation.

Thank you, Andrew, for your kind words. REN exists to serve our Members & Partners - making connections, seeding collaborations, and increasing awareness and resources for the rare epilepsies.

During #NEAM2024 and all day every day REN and our Members are committed to shining a bright light on all the rare causes of epilepsy and seizures toward better outcomes for our loved ones!

Looking for a #NEAM2024 messaging? Check out CDC's toolkit here. And share REN's posts too with #RareEpilepsies hashtag.

Navigating AES... AES is just a month away. We hope you will drop by REN's Booth N2061 to learn more about the Network, meet our 150 members, snap a photo with our leaders, and say hello.

Many REN Members have asked for guidance on how to navigate AES. So we did our best to scour the agenda to highlight REN leaders presenting and topics we thought would be of interest to our readers. We likely missed a few, so please help us fill in any gaps.

REN will begin the week at the Partners Against Mortality in Epilepsy (PAME) conference, which begins with a Family Day on December 4th, followed by the scientific conference on Dec 5. You can register using the AES meeting website. For those attending just PAME, contact: PAME@aesnet.org.

Below, check out REN leaders presenting at AES, highlighted in yellow, and the many symposiums, workshops, and lectures we hope to take in. Please be sure to double-check the online Agenda directly. Also, look for relevant SIGs on Status Epilepticus, Translational Research, Neonatal Seizures, Sleep, DEE with X Links, Education, Surgery, Psychosocial Comorbidities, SUDEP, and more! Check out the posters and the poster walking tours, too.

FRIDAY @ AES

SATURDAY @ AES

SUNDAY @ AES

MONDAY @ AES

TUESDAY @ AES

Last words on AES... In addition to REN's booth, we hope you will take the time to visit individual booths of REN's Members, too. These organizations provide information, education, and support for families and caregivers. Many offer research funding grants and tools like Natural History Studies, biorepositories, contact registries, animal models, and so much more. They are trusted resources and partners for clinicians caring for the patients. And if you are looking to do a deep dive on the rare epilepsies - these are the best partners around. Take the time to get to know them, their constituents, and their resources.

Leaders Making A Difference... REN Leaders were again in numbers at a recent CZI gathering, including: Jill  Kiernan (TBRS), Christal Delagrammatikas (Malan ), Pangkong Fox (CACNA1A), Jill  Kiernan (TBRS), Sunitha Malepati (CACNA1A), and Nasha Fitter (FoxG1).

Several leaders traveled cross country to attend, moderate and present at the NORD meeting as well. We spotted Karen Utley (IFCR, REN Vice Chair), Shelley Frappier (Cute Syndrome), Kacie Craig (Cute Syndrome). Christal Delagrammatikas (Malan Syndrome); Leah Schust (FamilieSCN2A), Gabrielle Rushing (CSNk2a1), Sierra Phillips (Warsaw Breakage); and others. Apologies for anyone we missed!

Sunitha Malepati (CACNA1A) and Luke Rosen (KiF1a) discussed the importance of building partnerships and using storytelling to drive patient advocacy at the BIOPatient Summit in DC too. And Ashley Dike (The LCC Foundation ) attended "Advancing Rare Disease Therapies Through FDA Rare Innovation Hub" Public Listening session. Check here for a recording.

End on a note of gratitude...As we race to Thanksgiving, winter festivities, and the end of the year, we wish to say THANK YOU. Our progress, strength, and transformation depends on the kindness and grace of so many stakeholders working collaboratively. For that, we are grateful.

With appreciation,

REN Coordinating Committee

PS Members Only: There is NO REN Member Meeting in November. We are excited to see you at AES.

• NEW AES is conducting a Medication Access Survey to understand better the challenges people with epilepsy and their caregivers face, especially when it comes to accessing medications. If you're a person with epilepsy or a caregiver to someone with epilepsy, we invite you to participate or share this survey with others in the community. Participate here by Nov 15, 2024.

   

• NEW Survey: Are you a person with a disability, a healthcare provider, or an advocate wanting to increase accessibility in OBGYN offices? Learn more about Improving Gynecologic Resources for Accessibility, Collaboration, and Education (iGRACE) and complete the survey from the University of Colorado Fellow here.

Hot Topics

•  Factors impacting time to genetic diagnosis for children with epilepsy | Epilepsia Open 

•  The expanding field of genetic developmental and epileptic encephalopathies: current understanding and future perspectives | Lancet Child Adolesc Health (Abstract)

• Largest Whole Exome Sequencing Study of Epilepsy to Date Finds New Genetic Links | Inside Precision Medicine; Original: Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare ...| Nature Neuroscience (Abstract); (REN MEMBERS – look up your genes in the WES Browser) Other articles: Genes Linked to Epilepsy Revealed in Study of Over 50000 People - ScienceAlert

• Behind The Breakthroughs: The Tipping Point for Adopting Precision Medicine | Inside Precision Medicine

• Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions | JAMA

  (Scientists tested whether newborns had any of 156 treatable early-onset genetic conditions and, if parents consented, 99 neurological conditions that cause seizures. They found that 3.7% of the first 4,000 newborns enrolled in the study, dubbed Guardian, had a positive test, and that the vast majority of these results were for conditions not included in current newborn screening.” )(Shout out to Dr. Wendy Chung)

• Complete Fruit Fly Brain ‘Connectome’ Advances Understanding of Essential Brain Functions in Health and Disease |NIH Director

• NIH’s CARE for Health Primary Care Research Network: Connecting the Lab, the Clinic, and the Community

• The story of a loud gene and the neuroscientist who made it sing - Silicon Republic (Nobel prize-winning; microRNA; potential connections to epilepsy)

Of Interest

• Underutilization of Neurodiagnostic Resources in Drug-Resistant Epilepsy | Epilepsy Currents 

• Preclinical Testing Strategies for Epilepsy Therapy Development  |  Epilepsy Currents

• Neuromodulation Strategies in Developmental and Epileptic Encephalopathies | Epilepsy and Behavior  (Abstract)

• A Comprehensive Review of Recent Trends in Surgical Approaches for Epilepsy Management (Cureus)

• Characteristics of overnight video‐EEG monitoring in infantile epileptic spasms syndrome at ...| Epilepsia (Abstract)

• Familial Epilepsy: Expert Explains The Genetic And Environmental Factors Behind Inherited Seizures | OnlyMyHealth

• Raising Awareness and Bridging the Gap in Rare Diseases Research for Hispanic Communities | Epilepsy Foundation News & Stories (The Hispanic Society for Rare Diseases)

• Status Epilepticus in EMS - JEMS 

• The Fundamentals of Antiseizure Medications: A Through Z | Epilepsy Currents

AI, Technology & Data

• AI Model Takes New Approach to Performing Diagnostic Tasks in Multiple Cancer Types

Comorbidities

• Neuropsychiatric Profile in Tuberous Sclerosis Complex Patients with Epilepsy - Frontiers

• New catalog charts familial ties from autism to 90 other conditions | The Transmitter | The Transmitter

• ENVISIONing a critical period to preserve development: communication delays in SCN1A+ Dravet syndrome | Epilepsy Currents

• New Swedish Study Highlights Link Between Epilepsy and Language Difficulties in Children University of Gothenburg

• Sleep-related epilepsies in the course of development in childhood | springermedizin.de (Germany)

Genetics, Testing & Gene Therapy

• Genome Sequencing After Exome Sequencing in Pediatric Epilepsy - JAMA Network (Abstract)

• Association of LONP1 gene with epilepsy and the sub-regional effect | Scientific Reports | Nature

• Edit (Kill) The Messenger | Science (Rett) 

   

 Disorders

• Advancing Toward Gene Therapies for Rare Epilepsies | CURE Epilepsy

• Study reveals key role of TRIO gene in epileptic encephalopathies - Medical Xpress (TRIO)

• Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder |Genetics in Medicine (Shout out to FAM177A1)

• More is Different in mTORopathies | Epilepsy Currents (mTOR); Drinking from the fountain of youth for mTOR-related epilepsy | Epilepsy Currents

• A novel loss-of-function KCNB1 gene variant in a twin with global developmental delay and seizures (Abstract) (KCNB1)

• Accumulated seizure burden predicts neurodevelopmental outcome at 36 months of age in ...

• Clinical Trials for Lennox-Gastaut Syndrome: Challenges and Priorities |Annals of Clinical & Translational Neurology (LGS)

• Researchers identify possible treatment for rare disorder CTNNB1 syndrome | Medical Xpress (CTNNB1) (Scientists and clinicians are now looking back at cases characterized as cerebral palsy attributed to a lack of oxygen to the brain and are finding that a subset is actually CTNNB1 syndrome.) Inhibition of GSK3α,β rescues cognitive phenotypes in a preclinical mouse model of CTNNB1 syndrome, EMBO Molecular Medicine (2024). 

• Mutation Linked to Epilepsy Targeted With Novel Gene Therapy | Technology Networks; Bridging the Gapmer: promising gene therapy for rare epilepsy |  RegMedNet (ASO for KCNA2)

• Consensus recommendations on epilepsy with eyelid myoclonia (Jeavons syndrome) | ILAE  There is little published research on this rare type of epilepsy, which may be misdiagnosed or go undiagnosed for years. Two recent publications outline international consensus recommendations on diagnosis and management.

• Neurodevelopmental Disorder Caused by De Novo Deletions in lncRNA Gene, New England Journal of Medicine (2024). Little-studied RNA might be key to regulating genetic disorders like epilepsy and autism(CHD2) (Abstract); Researchers identify deletions in long noncoding RNA that lead to severe ...| MSN

• Study provides new insights into the molecular causes of rare, fatal hereditary disease | News Medical (IER3IP1-mutations)

Personal

• Moms Really Can Do It All - Meet Tracy: a Mom, Caregiver, Neuroscientist, and Advocate in ... - UCB

• New Los Angeles Musical Highlights One Family's Struggle to Live With Epilepsy and ... - CNHI News

• David Cameron joins Oxford research mission to develop treatments for rare diseases | The National 

Prevention + SUDEP/Mortality

• Sudden unexpected death in Epilepsy the focus of health professional meeting - ABC News 

Industry

• Lundbeck to acquire Longboard Pharmaceuticals in a strategic deal, significantly enhancing its neuroscience pipeline  | Longboard Pharmaceuticals (DEE)

• Marinus Pharmaceuticals Announces Topline Results From Phase 3 TrustTSC Trial of Oral Ganaxolone in Tuberous Sclerosis Complex and Commences Process to Explore Strategic Alternatives| MARINUS (TSC)

• Axonis raises $115 million to treat epilepsy | outsourcing-pharma.com (KCC2)

• Targeting Progranulin With Gene Therapy for Frontotemporal Dementia |  CGTLive® (FTD)

• FDA Grants Orphan Drug Designation to Capsida Biotherapeutics for Potential Treatment of STXBP1 DEE| CNHI News (STXBP1)

• Drug repurposing offers hope for SYNGAP1 patients | News-Medical (SYNGAP)

• Epilepsy Drug Market Projected To Reach US$ 27.6 Billion By 2033

• Neurocrine, Idorsia part ways 2 years after double phase 2 fails - Fierce Biotech

• Bora acquires rare diseases drugmaker Pyros Pharmaceuticals | World Pharmaceutical Frontiers

• Bright Minds Biosciences (DRUG) Partners with Firefly Neuroscience, Resulting in Stock Surge

• Fighting severe epilepsies: A new era for Dravet syndrome treatment? - Labiotech.eu (DRAVET)

• Cannabis medicine trials for refractory epilepsy to start in 2025 | Epilepsy Action (Ananda)(Cannabis)

Note: We strive to include open-access publications and urge more Journals to make their articles available for free! We appreciate those journals that make their publications available to patients and PAGs upon request, too. In some instances, we include links to titles and abstracts that are behind paywalls, given the significance of the topic. To our collaborators - insist your articles have free access so we all benefit from these learnings.

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

What Are We Listening To? A few podcasts on our radar this month include:

• ILAE’s Sharpwaves: Epilepsy comorbidities present before diagnosis

• Patient Worthy Podcast about Koolen-De-Vries with Ashley Point 

• CURE Epilepsy Epilepsy Explained Episode on SUDEP Explained

• Three podcasts from Neurology Live caught our eye:

  • Epilepsy in Pediatric Population: Prevalence, Pathophysiology, and Disease Heterogeneity

  • The Significance of Gene Therapy in Neuromuscular Medicine at the 2025 MDA Conference

  • Mechanism and Promise Behind XEN1101 in Focal Epilepsy: Jacqueline French, MD

REN Joined Other Stakeholders in Support of ...

• Epilepsy Community Letter ensuring Congress hears from the epilepsy community about epilepsy-specific appropriations from the Epilepsy Foundation.

• Ad Hoc NIH Letter asking for at least $48.9 Billion for the National Institutes of Health (NIH). The NIH is obviously critical in funding epilepsy research, and this request is consistent with our community letter (above). The NIH received a significant cut in FY 24, so everyone advocating for an increase in FY 25 is much needed. Organized by The Ad Hoc Group for Medical Research (a major advocacy coalition advocating for NIH funding).

• American Brain Coalition (ABC) BRAIN Initiative and All of Us Letter asking for at least $680.4 Million for the BRAIN Initiative and $541 Million for the All of Us program. Both of these fund epilepsy research. Like the NIH, BRAIN and All of Us received a cut in FY 24, and we are working to get investment back. Organized by ABC (a major neuroscience/neurology advocacy coalition).

• ABC Neurology Drug Program Letter is asking for $5 Million for the Neuroscience and Neurology Drug Program at the Food and Drug Administration. This is a newer program that allows the FDA to gain the expertise to develop policies and guidance that keep pace with emerging brain science and speed the development of safe and effective treatments for brain diseases and conditions. Organized by ABC.

Are your Senators and Representatives part of the NEW Epilepsy Caucuses? Please ask them to join. When they hear from a constituent, they are most likely to act. Everything you need to see if they are on and/or ask them to join is right here.

Upcoming conferences for Rare Leaders and Your Communities. Going to a conference - we are seeking REN Ambassadors to help spread the word about our network, resources, and work groups.

• 11/5-9 American Society of Human Genetics (Denver, CO)

• 11/11-14 Child Neurology Society Annual Meeting (San Diego, CA)

• 11/18-19 - 12th Annual Epilepsy Awareness Day at Disneyland “EADDL (Los Angeles, CA)

• 12/6-10 AES Annual Meeting (Los Angeles, CA)

• 3/8/2025 - Purple Day 2025

   

Are there any other conferences on your radar?

Contact: info@rareepilepsynetwork.org.

Disease-focused scientific and patient conferences shared on REN's member-only list-serve.  

Research and other grants of interest to rare epilepsies follow. Remember that REN is a prospective partner for your research efforts. Our network of 100-plus organizations are organized and eager to engage. Visit REN member websites, as many have research and conference grants available, too!

• CDC Epilepsy Incidence Among Children in the United States estimated post-Nov. 2024.

• NINDS recently hosted the OPEN Stage Webinar: Support for Research on the Epilepsies. The recording and the slides are here. We also PDF'd key contacts and resources here.

• AAP National Coordinating Center (Center) for Epilepsy is calling for successful strategies for enhancing care for children and youth with Epilepsy (CEY).

   

Visit  Epilepsy Research Connection (ERC) for epilepsy research funding opportunities from non-profits and the government.

Help celebrate REN Members and National Health Awareness days. November celebrates Native American Heritage Month too. And Infantile Spasms Awareness Week is Dec 1-7. Got an awareness day? Send REN your art and link!

Visit REN's website for resources and links to our partners. A few key resources from our members include:

• NEW NORD's State Resource Center contains a list of local, state, and national organizations offering free or low-cost services (disability assistance, caregiver support, legal advocacy, and more)  for people impacted by rare diseases.

• NEW Caring for Adults with Rare Epilepsy Binder (Dravet, TSC, LGS developed with UCB)

• NEW To stay abreast of the Intersectoral Global Action Plan (IGAP), visit ILAE Gateway!

• NEW Time To Talk About Seizures and Rescue Therapies (The Seizure Action Plan Coalition (managed by Epilepsy Alliance America), Living Well with Epilepsy, and DEE-P Connections )

• NEW Rare Disease Drug Development: What Patients and Advocates Need to Know (National Organization for Rare Disorders (NORD®) with FDA’s Center for Drug Evaluation and Research (CDER) and the Critical Path Institute (C-Path)

• NEW Preventing Epilepsy Deaths: Clinician Toolkit (CNF, EF, AES, Danny Did et al)

• Developmental & Epileptic Encephalopathy (DEE) Toolkit (Epilepsy Foundation)

• Parents, Caregivers & Sibling Kits (DEE-P Connections)

• Shortening the Diagnostic Odyssey (Childhood Neurology Foundation)

• Newborn Screen Action Center (Everylife Foundation)

• Gene Based Dx 101 (Global Genes)

• ICD Code Roadmap Resource Guide (EveryLife Foundation)

• Care & Family Resources (DEE-P Connections)

• Financial Resources Toolkit (Dup15q Alliance) + Medical Assistance (Everylife Foundation)

• Transition to Adulthood (Pediatric Epilepsy Surgery Alliance)

• Transitions of Care HUB (Childhood Neurology Foundation)

• State by State Insurance Guide 2022 (Angelman Syndrome Foundation)

• Patient Involvement in Rare Disease Therapy Development (Everylife Foundation)

• HHS Child and Adolescent Health Emergency Planning Toolkit  

• The Rise of the Impatient Advocate (Global Genes)

• Building a More Inclusive Rare Disease Community (Global Genes)

• Young Adult Bereavement Virtual Support Group (Epilepsy Foundation)

• Genetic Testing for the Epilepsies (Rare Epilepsy Network)

• Care Coordination resources (Child Neurology Foundation)

• Caregiver Connect (Dravet Syndrome Foundation)

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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.