Inheritance in SCN8A - Updated November 2023
In this updated session on inheritance in SCN8A, we hear from Dr. Hammer – SCN8A dad, geneticist and co-founder of the International SCN8A Alliance – about:
- inherited and de novo mutations/variants
- the risk of SCN8A in future pregnancies/family planning
- how mutations on the SCN8A gene lead to SCN8A disorders
- moasicism
- gain-of-function and loss-of-function in SCN8A
- and many more topics important to an SCN8A parent
SCN8A and Infantile Spasms - June 17, 2023
The International SCN8A Alliance team, including our Chief Scientific Officer and SCN8A dad, Michael Hammer, PhD and SCN8A mom, researcher and Board Member Madeleine Oudin, PhD for a discussion about Infantile Spasms (IS) in SCN8A. We will share some emerging research and learnings from our Registry about IS, talk about what IS are and look like, and share some resources you can use to advocate for the best possible care and treatments for your children who have IS. Given the sensitive nature of the conversation, we are not publicly sharing the discussion amongst families that followed.
The Science Behind PRAX-562 - June 11, 2023
This is an in-depth discussion between The International SCN8A Alliance team, led by our Chief Scientific Officer Michael Hammer and team members from Praxis Precision Medicines – Steve Petrou (Co-Founder & CSO) and and Brian Pfister (VP Global Medical Affairs). Additionally, we were joined by Christelle Achkar, a Pediatric Neurologist at Boston Children’s who is currently completing a fellowship at Praxis.
In this session you’ll hear about what makes PRAX-562 different than other sodium channel blockers, how it works and a bit more about the clinical trials currently underway for SCN8A and SCN2A.
Inheritance and Mosaicism in SCN8A - April 1, 2023
During this session, we hear from Dr. Hammer about inheritance & mosaicism in SCN8A & what we are learning about cases of inherited SCN8A.
Research Update - March 25, 2023
In this update, we discuss some of the genetics behind SCN8A including:
- A genetics 101
- De novo versus inherited mutations
- What the c. and p. mean on genetic reports
- Different types of genetic mutations (missense, splice, nonsense, frameshift, etc.)
- Gain-of-function and loss-of-function
- and many more topics important to an SCN8A parent
International SCN8A Awareness Day Live Event - February 9, 2023
An amazing evert to mark International SCN8A Awareness Day 2023!
Alliance co-founders Michael Hammer, JayEtta Z. Hecker and Gabrielle Conecker were be joined by many special guests including: Cinzia Scarcelli of SCN8A Italia Gaby de Leeuw of SCN8A Nederland Dr. John Schreiber of Children’s National Hospital Vanesa Perez and Aurora Rojo Iriondo of SCN8A España Dietrich Haubenberger of Neurocrine Biosciences Brian Pfister of Praxis Precision Medicines Madeleine Oudin – SCN8A mom and researcher and Interntaional SCN8A Board Member
Community Discussion: Emerging Genetic Treatments for SCN8A - Sept 2022
Check out this conversation about emerging genetic treatments for those living with SCN8A with SCN8A parents/scientists Madeleine Oudin and Chris Burge. In this talk, you’ll hear about antisense oligonucleotide (ASO) treatments, CRISPR and gene therapy. Madeleine and Chris also share about their journey with nLorem to develop an ASO treatment for their daughter, Margot.
Marking Ten Years Since the Discovery of SCN8A - March 2022
A discussion with the core team who made the discovery that SCN8A caused epilepsy in humans, their seminal publication ten years (March 2012) and the incredible progress since then. The discussion includes Miriam Meisler, Krishna Veeramah, Michael Hammer, JayEtta Hecker and Gabi Conecker and was recorded in March 2022.
International SCN8A Awareness Day February 9th
A model of SCN8A, explained
JP Johnson, of Xenon Pharmaceuticals, was kind enough to sit down with the team from the International SCN8A Alliance to talk about SCN8A – the gene itself, how it functions under normal circumstances and how new treatments being developed may impact the gene.
A fun and educational way to learn more about SCN8A!
