DYRK1A Syndrome

DYRK1A Syndrome International Association #DYRK1A #DSIA

[Ophthopedia @ophthopedia]

Ophthopedia Update: DYRK1A retinopathy https://t.co/h5xgP6zG35 #Ophthalmology #Eye #Ophthotwitter

[Amar Sahay @AmarSahay_]

1. Dyrk1a recruits PV IN mediated feed-forward inhibition in DG-CA2 and DG-CA3 to mediate social recognition 2. Using genetic epistasis, we identify molecular & circuit-based enhancers of Dyrk1a function to reverse developmental synaptic, circuit & social recognition impairments.

[Simons Searchlight @s_searchlight]

Amy's child Myles has a #DYRK1A genetic variant. She shares this advice to newly diagnosed families: "Take a DEEP breath. It will be ok, I know this is earth-shattering news. Your child will make leaps and goals in their own time." #SimonsSearchlight

➡️ https://t.co/FqWVBGBNst

[James Fasham @JamesFasham]

C08 #ESHG2022 Amelie Piton

DYRK1A syndrome
- frequent cause of NDD
- mostly missense variants in Kinase domain
- noted effect on autophosphorilation
- typically microcephaly, but a mirror seen
- expressive communication features prominent

Much data from
https://t.co/BMmCKc0wkB

[Scripps Research Graduate Program @ScrippsGradPrgm]

Congrats @LittleLevyy in the @damonpagelab on a successful defense! Levy's focus was on investigating cellular and molecular mechanisms underlying brain undergrowth & #autism-relevant behavioral deficits caused by #DYRK1A mutations, & identifying potential targeted therapeutics.

[Newinnfootballclub 🇺🇦 @Newinnfootball1]

Check this out. A demo of what our new banner will look like for next season. Proud to display our amazing sponsors and an honour to have @DYRK1Aorg and @Bradleysfight on there too. @IAmJermainDefoe

[Simons Searchlight @s_searchlight]

A new pub by Fenster, Ziegler, and members of the #SimonsSearchlight team analyzed the medical history data of patients w/likely pathogenic or pathogenic variants in the #DYRK1A gene to further establish their connection to neurodevelopmental disorders: https://t.co/XyfizG5ZVJ

[MCRI - Translational Centre for Speech Disorders @MCRI_SpeechLang]

Hot off the press from our team: the first systematic characterisation of speech and language skills in #DYRK1A syndrome
@speechneuro @ruthbraden2 @a_brignell @BregjevanBon @drdavidamor @Lottiedmorison @MCRI_for_kids https://t.co/SDPMgyvdgC

[Damon Page Lab @damonpagelab]

The manuscript, in which we identified that mutations in ASD/ID risk gene DYRK1A cause microcephaly and decreased neuronal growth through decreased growth factor signaling, can be found here. @LittleLevyy

https://t.co/NX3zWR5nG9

[Shooting Star Children's Hospices @SSChospices]

George is taking part in our Space Race in memory of his friend James. George has Autism, Visual Impairment, Epilepsy, a Severe Learning Disability, and was recently diagnosed with DYRK1A Syndrome.
Sadly James passed away last year while being supported by us 💙

[DYRK1A Syndrome @DYRK1Aorg]

We thank you for all the support and attention.

[Mystery Tackle Box @MysteryTackleBx]

We helped @RandyMoss organize the first Straight Bass Classic in memory of #SidHartman and to raise awareness about @DYRK1Aorg. Support a great cause by picking up a #StraightBassHomie shirt! Proceeds will go to advancing DYRK1A research: https://t.co/50SwjBp0jA

[Herault @YannHerault]

Happy to share insights from our lab about "Dyrk1a gene dosage in glutamatergic neurons has key effects in cognitive deficits observed in mouse models of MRD7 and Down syndrome … https://t.co/JRiJmAUsSu

[Katie Jensen Giessel @KJGiessel]

Thanks for an Amazing night at the K supporting #RareDisease. 💙🙏#DYRK1A @Taylor_Michael3 @UpliftingAth @Royals @Gretti_53

[Sherrie Howell @Sherrie_Howell]

Thank you so much for hosting our special kids!

#RareDiseaseCommunity
@DYRK1Aorg
@Royals @Chiefs

[Craig Peters @pcraigers]

Great job by group 2 raise $ for ⁦@DYRK1Aorg⁩. Appreciate stories by #vikings on Sid. Still thinking about ⁦@ChadHartmanShow⁩ quote about son’s courage: “There are people in this room who are heroes to so many people. I have one hero in my life and that’s [Quintin].”

[Andy Mac @ItsAndyMac_]

HOF football player and HOF angler?

@RandyMoss helped host the Straight Bass Classic to raise money for @DYRK1Aorg⁩ and honor Sid Hartman on Lake Minnetonka today. @kare11 #kare11sports

[Ayto. Torre Pacheco @TPacheco_Ayto]

Carrera Virtual D ’GENES DYRK1A

#hazdeporteporeldiainternacionalDyrk1A

Inscripciones https://t.co/YUawvIuG4i @la_famu

https://t.co/SAb1ni8Zjg

[News Talk 830 WCCO @wccoradio]

He's back! Our old friend @RandyMoss is back in the Twin Cities to host a fishing tournament benefitting DYRK1A, a rare syndrome that affects @ChadHartmanShow's son Quintin. Chad and Randy talk about that and more including his relationship with Sid!

https://t.co/iiTsLvEkzi

[DYRK1A Syndrome @DYRK1Aorg]

@ChadHartmanShow @RandyMoss Thank You from all the DYRK1A Kids & their families.

[Chad Hartman @ChadHartmanShow]

Memorable day for our family. ⁦@RandyMoss⁩ came to Lake Minnetonka to honor my father, he raised money for kids who have ⁦@DYRK1Aorg⁩ like my son and only hero, Quintin. No money goes to our family. If you can contribute in any way, thanks for your consideration. ❤️🙏🏼