SynGap Research Fund

@SyngapRF

Our mission is to improve the lives SynGAP patients through R&D on treatments, therapies and support systems. Our mantra: Collaboration. Transparency. Urgency.

Palo Alto, CA
syngapresearchfund.com
Joined December 2018
3 Photos and videos Photos and videos

Tweets

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  1. Pinned Tweet
    Jun 29

    New SRF article by gives you a beautiful glimpse into the journey parents of patients have to go through just for a diagnosis & why it matters. Share this link:

    6 retweets 16 likes
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  2. Retweeted
    Jul 15

    How many patients in your community? Is a really tricky question, but here is our answer... all efforts to make it better are welcome! Please share this link:

    2 retweets 7 likes
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  3. Jul 15

    How many patients in your community? Is a really tricky question, but here is our answer... all efforts to make it better are welcome! Please share this link:

    2 retweets 7 likes
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  4. Retweeted
    Jul 11

    Nice article about SynGAP1 mutations and autism. Family groups, researchers join forces to solve mysteries of autism gene

    1 reply 9 retweets 15 likes
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  5. Retweeted
    Jul 10

    We hit a crisis of trust a year into our now 24 year long odyssey when doctors told us seizures don’t cause brian damage and drugs will stop her seizures. >40,000 seizures and 26 failed treatment later, she is still having seizures. And they have absolutely damaged her brain.

    The loss of trust in medicine and the degradation of the patient-doctor relationship bye and
    Show this thread
    3 replies 8 retweets 16 likes
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  6. Retweeted
    Jul 9

    KIF1A mom Jenni shares her insights after attending hosted by & . At this workshop, Jenni connected with fellow rare disease advocates & found renewed hope for the future of the KIF1A community.

    5 retweets 8 likes
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  7. Retweeted
    Jul 5

    So important for so many of our families who suffer from Lennox-Gastaut Syndrome (LGS) secondary to a genetic cause (SCN8A, SCN2A, CHD2, ALG13, Trisomy 21, ARX, FOXG1, GRIN2A, GRIN2B, PCDH19, SCN1A, SYNGAP1, CDKL5, TSC1, TSC2, Dup15q, and so many more)!! Thank you Dr. Perry!

    Today was first day for ⁦⁩ Adult Genetic Epilepsy clinic! The first of hopefully many successful transitions to adult care for people with ! Ensuring Quality Care for Adults With Rare Genetic Epilepsies | The Arcuate
    4 retweets 21 likes
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  8. Retweeted
    Jul 9

    This is what the Trump Admin is arguing in court today: - Health care is a privilege - Preexisting conditions can be disqualifying - Low-income patients can't be treated - Addiction treatment can't be covered - This nation is too weak to care for all citizens

    553 replies 6,828 retweets 11,875 likes
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  9. Retweeted
    Jul 8

    RT : This 👇🏻is important! It is never too late to look for the etiology of epilepsy. Adults deserve the same evaluations available to kids and getting them the right treatment may improve their outcomes.

    Clinical utility of multigene panel testing in adults with epilepsy and intellectual disability.
    5 retweets 14 likes
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  10. Jul 1

    Thrilled to share the first SRF grant to of & Dr. Holder of w/ this press release. , , , ,

    2 replies 2 retweets 9 likes
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  11. Retweeted
    Jun 22

    "Without us the field of stem cell research loses a vital source of support and funding, and potentially-life saving therapies fall by the wayside.” . seeks to rally support from patient advocates as it faces an uncertain future.

    5 retweets 12 likes
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  12. Retweeted
    Jun 23

    . aims to promote scientific understanding of SCN2A gene mutations with inaugural grant.

    2 retweets 15 likes
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  13. Retweeted
    Jun 21

    💦Syngap Awareness Day💦Syngap Research Fund (SRF) now 501(c)3 approved. In its first year, SRF has committed $800K to research. SRF is helping families manage the complexities of syngap life. How it all began:

    2 retweets 5 likes
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  14. Jun 20

    We could not agree more.

    1 retweet 1 like
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  15. May 29

    New SRF For Parents, by Parent post on understanding your genetic report! Share the link:

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  16. Retweeted
    May 10

    So we can add a new approach to the gene therapy for Dravet syndrome projects ongoing: this one would be "viral delivery, AAV" at the left-hand side. And instead of delivering a copy of SCN1A (too large for AAV) it uses a transcription factor for SCN1A 👇

    Multiple types of in development for syndrome: - Large-capacity adenovirus and lentivirus - Two AAVs each with half SCN1A gene - AntagoNAT approach from OPKO - ASO approach from First trial expected in 2020! 🧬 review:
    Show this thread
    1 reply 4 retweets 11 likes
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  17. Retweeted
    May 2

    I just got my May delivered. the only thing I use to treat

    1 reply 2 retweets 8 likes
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  18. May 2

    ., her kindness, insight, and advice, given to our founders days after their son’s diagnosis is why SRF exists. We are big fans. FYI:

    Thank you and for sharing a little piece of our history & highlighting the work has done for
    1 like
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  19. Retweeted
    Apr 29

    To make sure we’re building tech tools tailored to researcher needs, we surveyed computational biologists about their work. Here’s what we found:

    26 retweets 57 likes
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  20. Retweeted
    Apr 27

    A sea change is afoot in rare diseases led unsurprisingly by patients and families. The era of n-of-1 companies is here: 1 mutation, 1 family, 1 patient, 1 research plan, 1 cure odyssey. Once upon a time n-of-1 was the stuff of myth and legend, see John Crowley and Pompe.

    5 replies 31 retweets 76 likes
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