CureKCNH1

Cure KCNH1 Foundation is dedicated to advancing the development of treatments for children with KCNH1 genetic disorders.

[CureKCNH1 @CureKCNH1]

@lukebrosen I’m so sorry Luke 💔 I hate what this life does to the siblings, it’s so messed up. Sending lots of thoughts and prayers for Susannah, and your whole family.

[CureKCNH1 @CureKCNH1]

@aymnelkilany @JohnMillichapMD Hi Dr. Kilany, I do a search for KCNH1 every so often and just came across your tweet. We do in fact have a repurposed drug for KCNH1, but it’s crucial to ensure that the patient has a gain-of-function variant. Happy to connect if you’d like to learn more!

[CureKCNH1 @CureKCNH1]

@lukebrosen @n_lorem @BainBrainLab @GoTeamIMPACT @CULionsWSOC 🫶🫶🫶

[CureKCNH1 @CureKCNH1]

@eperlste I think it’s abundantly clear that this is the case, but I’d love to see your sources for these stats, it’s always helpful to have data to back up our position when making a case to donors or applying for grants!

[CureKCNH1 @CureKCNH1]

Proud to share some of the highlights of our foundation’s work over the course of our first two years!

[CureKCNH1 @CureKCNH1]

@JMGraglia @eperlste @cureSYNGAP1 @ClementYChow @rarebasepbc @omidkarkouti @onnofaber @Kcnq2Cure @PURASyndrome @KCNT1_Epilepsy @DrJustinWest Nothing published yet re: clinical use of imipramine for KCNH1 DEE, just two n-of-1 trials, one of which had positive results and one negative...imperative to confirm GOF!

More info about KCNH1 DEE and imipramine: https://t.co/Pyxx33101i

[CureKCNH1 @CureKCNH1]

@eperlste That’s awesome, congrats Ethan!!

[CureKCNH1 @CureKCNH1]

@OnceUponAGene Good thing you weren’t counting on me for dinner!! 🤦‍♀️ Sorry about that, Tris got sick that day and the first half of the week was spent watching him like a hawk to make sure his breathing/O2 were ok. Made it through without a trip to the ER, but it was close 😅 How’s Ford??

[CureKCNH1 @CureKCNH1]

Excited to be featured in the spring edition of UC San Diego Magazine, following the feature article on rare-disease research being conducted at UCSD:

https://t.co/1qoqc2KohY

https://t.co/XmKzi9mUGI

#ucsd #ucsdalumni #ucsdbiology
#organoids #raredisease #curekcnh1

[CureKCNH1 @CureKCNH1]

@OnceUponAGene I hate what our kids have to go through 😭 Hope the surgery is more than worthwhile!!

[CureKCNH1 @CureKCNH1]

@OnceUponAGene @lukebrosen Every one of your posts lately makes me cry @lukebrosen…so thrilled for you guys and so hopeful for the future 💜

[CureKCNH1 @CureKCNH1]

@lukebrosen Thank you for sharing, Luke. We’re all rooting for you guys and I can’t tell you what it means to see Susannah doing well. No words indeed, just tears of joy and hope.

[CureKCNH1 @CureKCNH1]

"The couple's one regret is that they couldn't convince FDA to be less cautious about the therapy. Earlier treatment and a higher dose might have led to a different outcome ... They would happily have faced the risk of a brain hemorrhage for the possibility of a better outcome."

[USA TODAY @USATODAY]

New medical treatments, such as gene therapies, have the potential to save lives or transform them completely.

Unfortunately, clinical trials for unproven therapies don't always end well, especially for those who go first.
https://t.co/zEedoGbmw5

[CureKCNH1 @CureKCNH1]

@fam177a1mamma That’s awesome, Jill! Good for you for making it happen, good for them for being so supportive 😊

[Ionis @ionispharma]

FDA approves QALSODY™ (tofersen) as the first treatment targeting a genetic cause of ALS $IONS https://t.co/SDjIgPuNW1

[CureKCNH1 @CureKCNH1]

@eperlste Looking forward to it!

[CureKCNH1 @CureKCNH1]

@OnceUponAGene @RadyGenomics Wish you could’ve made it! Not too long till GG though :)

[CureKCNH1 @CureKCNH1]

Such a pleasure to participate in the @RadyGenomics BeginNGS workshop this week, this cutting-edge program has the potential to transform rare-disease diagnosis and it’s so exciting it’s happening right here in San Diego!

#BeginNGS #curerardisease #PrecisionMedicine

[CureKCNH1 @CureKCNH1]

@fam177a1mamma @jacksonlab @fam177a1 @combined_brain @eperlste So exciting! Fingers crossed for a clear phenotype that recapitulates the clinical presentation!!