FamilieSCN2A Foundation
@scn2a.bsky.social
"Families" is part of our name for a reason. Rare and devastating, SCN2A-related disorders affect the entire family. Our team of leaders strive every day and, in every way, to improve the lives of not only the patients, but the entire family.
🚨 Big news for the #SCN2A community 🚨
Landmark UCSF study shows CRISPR activation can restore SCN2A function — even later in development. A real step forward, and real hope, for families living with SCN2A-related disorders. www.prnewswire.com/news-release...
Landmark UCSF study shows CRISPR activation can restore SCN2A function — even later in development. A real step forward, and real hope, for families living with SCN2A-related disorders. www.prnewswire.com/news-release...
Landmark UCSF Study Demonstrates Functional Rescue of SCN2A Loss of Function, Underscoring the Potential of Regel Therapeutics' Targeted EpiEditing Platform.
/PRNewswire/ -- The laboratories of Dr. Kevin Bender and Dr. Nadav Ahituv at the University of California, San Francisco, today announced the publication of...
www.prnewswire.com
September 17, 2025 at 5:51 PM
🚨 Big news for the #SCN2A community 🚨
Landmark UCSF study shows CRISPR activation can restore SCN2A function — even later in development. A real step forward, and real hope, for families living with SCN2A-related disorders. www.prnewswire.com/news-release...
Landmark UCSF study shows CRISPR activation can restore SCN2A function — even later in development. A real step forward, and real hope, for families living with SCN2A-related disorders. www.prnewswire.com/news-release...
We're proud to celebrate the opening of the #SCN2A / #SCN8A Multidisciplinary Clinic at Children’s Hospital Colorado, led by Dr. Megan Abbott.
This clinic represents hope, progress, and a new chapter of support for our community.
www.scn2a.org/news.html
💜💚💙
This clinic represents hope, progress, and a new chapter of support for our community.
www.scn2a.org/news.html
💜💚💙
April 9, 2025 at 8:16 PM
We're proud to celebrate the opening of the #SCN2A / #SCN8A Multidisciplinary Clinic at Children’s Hospital Colorado, led by Dr. Megan Abbott.
This clinic represents hope, progress, and a new chapter of support for our community.
www.scn2a.org/news.html
💜💚💙
This clinic represents hope, progress, and a new chapter of support for our community.
www.scn2a.org/news.html
💜💚💙
📣 Please join us in congratulating Jennifer Kearney, PhD as this year’s MDBR awardee! Dr. Kearney created the first ever #SCN2a mouse model & also serves on the Foundation’s SAB.
Thank you riders, volunteers and donors!
Read more here: www.orphandiseasecenter.med.upenn.edu/awarded-gran...
Thank you riders, volunteers and donors!
Read more here: www.orphandiseasecenter.med.upenn.edu/awarded-gran...
January 9, 2025 at 7:01 PM
📣 Please join us in congratulating Jennifer Kearney, PhD as this year’s MDBR awardee! Dr. Kearney created the first ever #SCN2a mouse model & also serves on the Foundation’s SAB.
Thank you riders, volunteers and donors!
Read more here: www.orphandiseasecenter.med.upenn.edu/awarded-gran...
Thank you riders, volunteers and donors!
Read more here: www.orphandiseasecenter.med.upenn.edu/awarded-gran...
The much-anticipated recap of our experience at the #AES2024 is here! Check out how we kept #SCN2A front and center throughout this 4-day event!
👉 Read the full summary here: www.scn2a.org/AES-2024-Rec...
👉 Donate here: secure.qgiv.com/event/givesc...
💜💙💚
#CureSCN2A #GiftOfHope
👉 Read the full summary here: www.scn2a.org/AES-2024-Rec...
👉 Donate here: secure.qgiv.com/event/givesc...
💜💙💚
#CureSCN2A #GiftOfHope
December 17, 2024 at 8:33 PM
The much-anticipated recap of our experience at the #AES2024 is here! Check out how we kept #SCN2A front and center throughout this 4-day event!
👉 Read the full summary here: www.scn2a.org/AES-2024-Rec...
👉 Donate here: secure.qgiv.com/event/givesc...
💜💙💚
#CureSCN2A #GiftOfHope
👉 Read the full summary here: www.scn2a.org/AES-2024-Rec...
👉 Donate here: secure.qgiv.com/event/givesc...
💜💙💚
#CureSCN2A #GiftOfHope
Our team proudly represented the #SCN2A community at #AES2024! Over 4 days, we worked tirelessly to spread awareness, educate, and collaborate on advancing care and treatments for SCN2A-related disorders.
Each meeting and conversation reinforced the power of collaboration in driving progress!
Each meeting and conversation reinforced the power of collaboration in driving progress!
December 12, 2024 at 9:35 PM
JUST PUBLISHED! Cambridge "SCN2A-Related Disorders" Written and edited by leading experts, this comprehensive review explores the clinical spectrum, genetics, and therapeutic advances surrounding SCN2A-related conditions. Open access made possible by FamilieSCN2A. www.scn2a.org/pdf/scn2arel...
www.scn2a.org
November 22, 2024 at 8:55 PM
JUST PUBLISHED! Cambridge "SCN2A-Related Disorders" Written and edited by leading experts, this comprehensive review explores the clinical spectrum, genetics, and therapeutic advances surrounding SCN2A-related conditions. Open access made possible by FamilieSCN2A. www.scn2a.org/pdf/scn2arel...
Reposted by FamilieSCN2A Foundation
Hot off the press. New article, "Charting the Course to a Cure for #SCN2A related disorders" was just published today in Therapeutic Advances in Rare Disease. journals.sagepub.com/doi/10.1177/.... #rareepilepsy #autism #patientadvocacy
Sage Journals: Discover world-class research
Subscription and open access journals from Sage, the world's leading independent academic publisher.
journals.sagepub.com
November 12, 2024 at 6:35 PM
Hot off the press. New article, "Charting the Course to a Cure for #SCN2A related disorders" was just published today in Therapeutic Advances in Rare Disease. journals.sagepub.com/doi/10.1177/.... #rareepilepsy #autism #patientadvocacy
Reposted by FamilieSCN2A Foundation
New paper from @selinsch.bsky.social in collaboration with @alexkwan.bsky.social
doi.org/10.1523/ENEU...
Scn2a loss is a major ASD/ID risk, and it brings along comorbidities like epilepsy. Selin found that mouse models do just fine in foraging tasks, but the associated water restriction ⬆️ seizure
doi.org/10.1523/ENEU...
Scn2a loss is a major ASD/ID risk, and it brings along comorbidities like epilepsy. Selin found that mouse models do just fine in foraging tasks, but the associated water restriction ⬆️ seizure
Dynamic Foraging Behavior Performance Is Not Affected by Scn2a Haploinsufficiency
Dysfunction in the gene SCN2A , which encodes the voltage-gated sodium channel Nav1.2, is strongly associated with neurodevelopmental disorders including autism spectrum disorder and intellectual disa...
doi.org
December 30, 2023 at 7:05 PM
New paper from @selinsch.bsky.social in collaboration with @alexkwan.bsky.social
doi.org/10.1523/ENEU...
Scn2a loss is a major ASD/ID risk, and it brings along comorbidities like epilepsy. Selin found that mouse models do just fine in foraging tasks, but the associated water restriction ⬆️ seizure
doi.org/10.1523/ENEU...
Scn2a loss is a major ASD/ID risk, and it brings along comorbidities like epilepsy. Selin found that mouse models do just fine in foraging tasks, but the associated water restriction ⬆️ seizure
✨ Big News! ✨
Seize the Moment. Move Mountains for SCN2A!
We’re thrilled to announce that our 7th Family & Professional Conference is coming to Denver, Colorado on July 31-Aug 2, 2025! More details coming soon! 💙💚💜
#SCN2A #cureSCN2A #genetics #geneticeilepsy #autism #epilepsy
Seize the Moment. Move Mountains for SCN2A!
We’re thrilled to announce that our 7th Family & Professional Conference is coming to Denver, Colorado on July 31-Aug 2, 2025! More details coming soon! 💙💚💜
#SCN2A #cureSCN2A #genetics #geneticeilepsy #autism #epilepsy
November 22, 2024 at 2:09 PM
✨ Big News! ✨
Seize the Moment. Move Mountains for SCN2A!
We’re thrilled to announce that our 7th Family & Professional Conference is coming to Denver, Colorado on July 31-Aug 2, 2025! More details coming soon! 💙💚💜
#SCN2A #cureSCN2A #genetics #geneticeilepsy #autism #epilepsy
Seize the Moment. Move Mountains for SCN2A!
We’re thrilled to announce that our 7th Family & Professional Conference is coming to Denver, Colorado on July 31-Aug 2, 2025! More details coming soon! 💙💚💜
#SCN2A #cureSCN2A #genetics #geneticeilepsy #autism #epilepsy