PK Fox

[PK Fox @pkmfox]

#NewProfilePic

[CACNA1A Foundation @cacna1a]

We are at @cziscience Science in Society 2024 meeting this week. The focus is on accelerating rare disease diagnosis, data integration for disease characterization and translation into therapeutic impact. #RareAsOne

[PK Fox @pkmfox]

Thanks for breaking this down, Dennis. We are guilty of simplifying the impact of variants into GoF and LoF even though we know it's not as black and white as "does the channel open more or less?" To understand our disease, we have to go deeper.

[Dennis Lal @LalDennis]

Building on Kevin's widely shared post, here’s a perspective from the #NeurodevelopmentalDisorder and #Epilepsy research community, tailored for those who may not be experts in molecular biology.

[CACNA1A Foundation @cacna1a]

Our 2024 #CACNA1A Creating Connections Conference was one for the books! We are grateful for all the families, clinicians, and researchers across the globe who joined us and are leaving with a renewed sense of hope and optimism for future treatments of CACNA1A-related disorders.

[CACNA1A Foundation @cacna1a]

2024 CACNA1A Conference Spotlight — CACNA1A 101: The Genetics of CACNA1A.

On July 19th, @Laina_GC of @ChildrensPhila & Dr. @JenPanMA of @broadinstitute will be leading the session! Join in-person in Bethesda or virtually: https://t.co/vIaqOjAbOW

[CACNA1A Foundation @cacna1a]

Leading up to our conference, we will be highlighting the sessions on our agenda.

Our first spotlight is Clinical Trial Readiness Initiatives with panelists @TJBichell @combined_brain, @WendyKChung @BostonChildrens and @PangkongFox. Register to join us: https://t.co/Ij9mltd1gw

[PK Fox @pkmfox]

Honored to be a part of the work being done at the @cacna1a foundation.

[CACNA1A Foundation @cacna1a]

Excited to announce our first published journal article now online in @TARareDisease as part of its special issue for #rare #epilepsy research.

It highlights the clinical trial readiness work spearheaded by the Foundation that support research for all #CACNA1A disorders.

[PK Fox @pkmfox]

@AlinaIvaniuk @MayoFL_NeuroRes @drjesfes @AMoosaMD @LalDennis @imadmnajm Congratulations Alina!

[PK Fox @pkmfox]

@nupharm1 @NUFeinbergMed Here's to 10 more years, Al!

[CACNA1A Foundation @cacna1a]

Congratulations @SamYoungLab on being awarded Team #CACNA1A @MDBRide4Rare grant for “Development of a Novel Viral Vector Gene Therapy Approach to Treat CACNA1A Cerebellar Disorders”! Thank you to everyone who contributed to this effort and @ODC_UPenn for your partnership

[CACNA1A Foundation @cacna1a]

We’re heading home from #AES2023. It was a productive few days of promising research updates, meeting new friends, reunions with collaborators and networking to further our mission to #CureCACNA1A. Thank you @AmEpilepsySoc! @lbhmana @PangkongFox

[PK Fox @pkmfox]

Excited to be heading down tomorrow!

[CACNA1A Foundation @cacna1a]

Our team is in Orlando for @AmEpilepsySoc mtg. Today, we went to the Channelopathy-Associated Epilepsy Research Center Without Walls investigator mtg, a model approach to collaborative research. Thank you @nupharm1 for inviting us.

If you're at #AES2023, stop by our booth 639!

[PK Fox @pkmfox]

@OrtnerNadine @TheVGCCC @CavX_PhD Congrats!!

[CACNA1A Foundation @cacna1a]

2023 CACNA1A Research Roundtable is a wrap! Check out the great summaries and takeaways from @LalDennis.
We are grateful to every participant for joining us, exchanging ideas and building new collaborations to advance research centered around the needs of our #CACNA1A families.

[biohub @biohub]

@noc_film Thanks to everyone who joined us for our 2023 #ScienceInSocietyMtg! It was a great opportunity to gather + hear from patient leaders, researchers & clinicians & other stakeholders about their incredible work toward finding treatments + cures for #RareDisease

[CACNA1A Foundation @cacna1a]

“Rare disease medicine is precision medicine, led by pioneering patients & families, paving the way for everyone.” @ClementYChow in his talk at @cziscience mtg & sharing how he is using flies and partnering directly w/families & pt orgs to get repurposed drugs to pts quickly.

[CACNA1A Foundation @cacna1a]

Today our Director of Science @PangkongFox had the honor of giving a presentation on @cacna1a patient-powered data collection at the annual @cziscience mtg. She highlighted our biobanking work w/ @combined_brain and our data collection efforts w/ @RARE_X_ @GlobalGenes.

[PK Fox @pkmfox]

LOIs are due tomorrow! Help develop treatments for our amazing CACNA1A community!

[UPenn Million Dollar Bike Ride by ODC @MDBRide4Rare]

Team CACNA1A & the @cacna1a Foundation seek applications for one $73,731 grant that will strongly impact the #CACNA1A community.

For more info & to apply: https://t.co/WgjkaoP3cO

[Dennis Lal @LalDennis]

Tweet 1/6: New variant interpretation research our team around @BruengerTobias:

https://t.co/wzKC7GtBXh

🧬 Missense variants often puzzle us in genetic test interpretation. Let's dive into how we're enhancing ACMG PS1 and PM5 criteria to solve this puzzle.

[Clement Chow @ClementYChow]

The @chowlab is looking for multiple postdocs to work on Precision Medicine for rare disease! Opportunities to work with industry, patient foundations and physicians. Starting pay will be substantially higher than NIH minimum. DM or email me! https://t.co/gQA8peq22G