March 2024

REN is proud of our network and the imapct we are collectively having!

 We hope you will read our IMPACT REPORT here for 2023 to learn all the ways REN is:

 

  1. fostering patient focused research and advocacy for rare epilepsies;

  2. improving access to and clinical care of all patients and families;

  3. increasing public and professional awareness of rare epilepsies;

  4. supporting and empowering REN's members and building; and

  5. strengthening the REN Network.

 

We welcome your ideas for partnerships and other ways to amplify our collective efforts. Contact info@rareepilepsnetwork.org.

Rare Epilepsy Leaders Leading... Many rare epilepsy leaders participated in Rare Disease Day activities the end of February and advocated for policies to improve rare disease research and care. Leaders from our community also asked their Members of Congress to join the House and Senate Epilepsy Caucuses.

Charlene Son Rigby (Global Genes, STXBP1, Epilepsies Action Network) and Nasha Fitter (FOXG1) (below) were both invited to the White House's Rare Disease Forum hosted by the Office of Science and Technology Policy highlighting the Biden-Harris Administration's commitment to supporting patients and families facing a rare disease. Another REN leader, Ryan Fischer (FAST), hosted Everylife's Rare Disease Day Briefing.

Many organizations joined Everylife's Rare Disease Day/week for training and advocacy. REN enjoyed connecting with Rare Epilepsy leaders (below) including (in the first photo) Caitlin Piccirillo (DESSH); Jennifer Griffin (LGS); Ilene Miller (REN, EAN); Shannon Cloud (Dravet); Laura Weidner (Epilepsy Foundation) and Jennifer Fischer (LGS). The second photo also includes: Katie Barry Boychuck (MED13l). Other rare epilepsy organization and leader sightings included: CDKL5, SYNGAP and more.

 

If you missed key events, you can check these links to listen in: Everylife Rare Disease (viewings not available yet); Rare Disease Day at NIH recording; and Rare Disease Day at FDA recording.

Shout out also to Epilepsy Foundation and Tuberous Sclerosis Complex Alliance (below) who both hosted well attended 'fly ins' advocating for increased federal funding of key epilepsies appropriations, programs, and services, as well as increased representation on the two Epilepsy Congressional Caucuses.

Making Moves & News...Decoding Developmental Epilepsies' (DEE-P) Gabi Connecker and JayEtta Hecker were featured on Good Morning Washington sharing the importance of recognizing the impact of and finding better treatments for those with rare disorders.

 

KCNA2 (Nancy Musarra) just put out a new video on rare genetic disorders and KCNA2.

Shout out to Jeff D'Angelo (CHAMP1) and his family who were recently featured in Epilepsy Foundation's Quarterly.

 

A NEW Multidisciplinary Center launched... Congrats to FamiliesSCN2A Foundation and UTHealth Houston on the launch of the first ever SCN2A multidisciplinary center. This center will treat both children and adults, offer genetic counseling; specialized care for epilepsy, autism, and movement disorders; and access to other subspecialties. REN is thrilled and hopes more of these centers are forthcoming.

 Data Collection & Rare Epilepsies... Hear how better standardization of data and collection is needed in the rare epilepsies with a case study presented by c-Path and the TSC Alliance (Mar. 14 @ 9 AM) Register here.

 

REN's data is also part of RDCA-DAP as is the data for multiple other rare epilepsies. See bottom of this newsletter for ALL of the rare epilepsy data collected within this platform.

 

Our friends at CURE Epilepsy are organizing a webinar on March 22nd focused on genetic testing in adults. Click here to register.

New Resources from REN Collaborators.... Thank you Centers for Disease Control (CDC) for apprising us of a new resource, created in partnership with the National Association of School Nurses (NASN), that assists school nurses in caring for students with epilepsy or seizure disorders. Learn ways for nurses to foster a safe and supportive environment for students and improve their quality of in Coordinated Support System for Students with Epilepsy.

 

American Academy of Pediatrics have also shared FREE and ready-to-use Strengthen & Enhance Epilepsy Knowledge (SEEK) Training modules! The National Coordinating Center for Epilepsy developed the SEEK Trainings as a resource to help build knowledge, capacity, and expertise and initiate discussion among those who care for CYE. Enhance your understanding of epilepsy care by diving into module 1 to learn about Cultural Humility, Family-centered Care, and Shared Decision-making in the Medical Home.

Welcoming NEW REN Members and Partners. We are pleased to extend a warm welcome to new REN members: CURE DHDDS; PCDH19 Alliance; USMEF2C Foundation; and V-ATPase Alliance. Click the links below to visit the organizations and extend them a warm welcome.

Information, Referrals & Connections...REN fielded patient requests for information and support on Prickle1, Sunflower Syndrome, Jeavons Syndrome, DEE-SWAS, LGS, KCNQ5, and other syndromes as well as inquiries from industry partners and clinicians. And REN's Members Only list-serve was relied upon for discussions key to our members.

 

REN is now on Linked In... Follow us here!

 

With appreciation,

REN Coordinating Committee

PS Members Only: Our next members meeting is March 25 at 1 PM ET.

Advocating for Change

Want to join the advocacy movement asking for more federal resources for the epilepsies? Listen to a recent webinar from REN partner Epilepsies Action Network. Highlights and calls to action for all epilepsy stakeholders are here, as are the presentation and recording.

Good Reads

Help Clinicians & Researchers Gather Inputs

REN collaborates with academic clinicians, researchers, and PAGs to disseminate surveys and other tools to deepen our understanding of rare epilepsies. Share these with your constituents and colleagues.

 

  • Rasmussen Syndrome Survey from Boston Children's Hospital

  • ILAE survey on genetic testing in the epilepsies - available in English, French, Spanish, Chinese and Russian from the ILAE Task Force on Clinical Genetic Testing in the Epilepsies

  • Prospective study of young people who may be at Genetic High-Risk for Psychosis (GHR-P) from Powers Lab at Yale School of Medicine

     

Have tool you would like to share? Contact: info@rareepilepsynetwork.org

General 

  • Integrative analysis of epilepsy-associated genes reveals expression-phenotype correlations (Scientific Reports)

  • Infantile spasms: Speeding referrals for all infants (EurekAlert!)

  • The Genetics of Epilepsy (Michigan Medicine)(webinar)

  • Research And Innovations: Latest Advancements In Epilepsy And Future Treatments (TheHealthSite)

  • Black family's struggle to get diagnosis for son highlights healthcare disparities (QCity Metro)(SYNGAP1)

  • ILEA Sharpwaves:The Neonatal Task Force of the International League Against Epilepsy (ILAE)

  • Dr Wendy Chung and Simons Searchlight: pioneering research into genes that cause rare neurodevelopmental disorders (Rare Revolution Magazine)

  • How PCPs Can Contribute to Epilepsy Care (Medscape) 

  • When diagnosis is just the first step: The Brain Gene Registry (Boston Children's Answers)

  • Undestanding Epilepsy Through Genetics - (Breakthrough Podcast) (PRRT2)

  • The landscape of drug resistant absence seizures in adolescents and adults: Pathophysiology, electroclinical spectrum and treatment options (Revue Neurologique)

  • For people with tough-to-treat epilepsy, seizure dogs may reduce seizures – (Eueka Alert)

 

Diagnoses & Disorders

  • Precision therapy for DEND (Developmental delay, Epilepsy and Neonatal Diabetes ... (ScienceDirect.com)

  • Genotype–phenotype associations in 1018 individuals with SCN1A-related epilepsies(Epilepsia)

  • Clinical analysis of PAFAH1B1 gene variants in pediatric patients with epilepsy.(Physicians Weekly)

     

Mortality & SUDEP

  • Raising Discussion on Gaps in SUDEP Knowledge in EpilepsyCare: Jude Luker, BA (Hons) (Neurology Live)

  • Effect of drug treatment changes and seizure outcomes on depression and suicidality in adults with drug-resistant focal epilepsy (Epilepsia)

  • Sex Differences in Status Epilepticus; Biological, Statistical, or Societal?

 

Human Interest

  •  We had to Google our son's rare disorder ten years ago- things need to change' – Dublin Live (KCNQ2)

  • Falmouth family searches for answers to daughter's rare disease (newscentermaine.com) – (USP7) – Shout out to Bo Bigelow

  • Unraveling the mystery of Celia's inexplicable disease | Health (EL PAÍS English)(RASopathies)

     

Industry News

  • Wearable Digital Health Technology for Epilepsy (NEJM)

  • Empatica launches EpiMonitor epilepsy monitoring system (Medical Device Network)

  • Encoded cleared in UK to test Dravet syndrome therapy ETX101 (Dravet Syndrome News)

  • Neurona secures $120m to advance lead cell therapy candidate for epilepsy  (PharmaTimes)(MTLE)

     

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

Mark Your Calendars

Upcoming conferences for Rare Leaders and Your Communities.

  

  • 3/23 Purple Day (Orlando, FL) - Christina SanInocencio will be presenting on Rare Epilepsies!

  • 4/13-14 GETA 2024 at The Florey Institute of Neuroscience and Mental Health Registration (Parkville, VIC, Australia)

  • 04/13-18 American Academy of Neurology (CO) (live and virtual)

  • 4/29-5/1 Global Genes Rare Drug Development Symposium (Philadelphia, PA)

  • 5/2-3 6th Dianalund International Conference on Epilepsy - Overlapping clinical phenotypes in Monogenic Epilepsies

  • 6/7-8 NORD LIving Rare, Living Stronger Patient & Family Forum + Rare Impact Awards (Los Angeles, CA)

  • 6/20-23 - Save The Date for NINDS Genetic Strategies to Treat the Epilepsies (live and virtual)

  • 9/25-28 Global Genes 2024 Rare Advocacy Summitt & RARE Health Equity Forum (Kansas City, MO)

  • 9/25-26 2024 Epilepsy Foundation Pipeline Conference (Atlanta, GA)

  

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.  

Funding for Rare Epilepsy Research

Research and other grants of interest to rare epilepsies follow. And remember REN as a prospective partner for your research efforts. Our network of 100 plus organizations are organized and eager to engage.

 

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

 

  • Rare As One Network Request for Applications (RFA) to create a cohort of organizations that are dedicated to accelerating research across three classes of disease: channelopathies, ciliopathies, and inborn errors of metabolism. Deadline is Feb. 22. Learn more here.

 

  • PCORI Approves $225 Million in Funding for Health Research and Related Projects

 

  • NIH launched the TARGETED (Targeted Genome Editor Delivery) Challenge, a multi-phase competition funded through the NIH Common Fund as part of the NIH Somatic Cell Genome Editing (SCGE) Program.

 

  • AES Seed Grants offer funds to help enable established investigators to pursue new and innovative lines of research, collaborations, and/or research methods. Many REN Members are collaborators on these grants.

     

  • Notice of Intent to Publish a Notice of Funding Opportunity (NOFO) for the Rare Diseases Clinical Research Consortia (RDCRC) for the Rare Diseases Clinical Research Network (RDCRN)

     

  • Epilepsy Foundation's Social Determinants of Health (SDOH) mini grants of $10,000

 

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

Rare Disease Days - Spreading Awareness

 

Celebrating a rare epilepsy awareness day?

 

Let REN know so we can shout it out!

 

Contact info@rareepilepsynetwork.org?

Resources @ Your Fingertips

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

  • 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)

  • Rare Research Roadmap (Global Genes)

  • 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)

 

Registry Data for Rare Epilepsies

The REN registry includes data for 1459 patients across 40 diseases!

 

To access data for comorbidities, developmental milestones, seizure medications, side effects, seizure history and more, visit https://portal.rdca.c-path.org. Support is available to navigate accessing the REN data.

RDCA-DAP contains data for over 34 diseases including several that are primarily or include rare epilepsy: Angelman Syndrome, CACNA1A, hnRNP, KIF1A, Kleefstra, LGS, Prader-Willi, Sturge-Weber and Tuberous Sclerosis.

 

*Indicates disease with datasets that are currently discoverable on the platform.

 

Interestingly breakdown by users is

 

  • 29% pharma;

  • 15% academia

  • 13% for both PAGs and Tech Industry.

 

If your org is interested in contributing data to RDCA-DAP, you can complete this form.

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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.

Visit: www.rareepilepsynetwork.org