Alexander

[Alexander @AlexSymonAllen]

Proud of the boys @Dave_Mathias @DanroDerrington @TheCFK Keesy and Ash 💙💜#DravetTogether

[Dravet Syndrome UK @DravetUK]

A big thank you to Alexander & friends, who raised a fantastic £1,000 by completing a 10K run. The pandemic has hit our fundraising income, so we’re really delighted to receive this donation. Inspired to get fundraising for @DravetUK? See https://t.co/fzm8lZ3gTM for info 🙏

[Alexander @AlexSymonAllen]

@FiladelfiaGene1 @Chiaferraz @ChiaraBg94 @Sebasortizdelar @Elegardella @FrancescaFuria_ @vale_dimicco Any updates on the IQSEC2 paper?

[Alexander @AlexSymonAllen]

@HoodedClaw1974 @weatherall_joe This is comparing culturally accepted risks - older maternal age increases the risk of genetic aneuploidies (a cause of congenital abnormalities) and this risk increases exponentially in mother’s aged >34. Both cultures have accepted each risk and the NHS provide care accordingly

[Remember The Girls @remember_girls]

Today is WORLD DUCHENNE DAY!🎈and this month we are highlighting Duchenne muscular dystrophy as part of our Carrier Connections series in partnership with @ParentProjectMD. Here is some important information on Duchenne and how female carriers can be impacted.

[Alexander @AlexSymonAllen]

@FiladelfiaGene1 @FrancescaFuria_ @ZeynepTumer_DK @Elegardella This is an amazing paper! Fascinating work on the impact of variant specificity in different transcripts due to variable expression patterns. Well done all! 👏

[Dravet Syndrome UK @DravetUK]

It's #DravetAwarenessDay. Can you share our film to reach more people in need of our support?

#LittleMomentsMatter shares what 3 families love about their children, what they don't love about #DravetSyndrome & how DSUK has supported them.

@ParkLaneStables @MeathCharity

[Alexander @AlexSymonAllen]

@angiejacobsongc @genetics101 @SinaiHealth @uwlabmedpath Hi, has this been published?

[National School of Healthcare Science @NSHCS]

Applications for the STP are open.

Find out about the skills, knowledge and research experience that is required to apply⬇️

https://t.co/KiULcfeeMe

[MND Research @PremiumXRemark]

📣 Research opportunity! 📣

@am_sheffgenet and team are developing a decision aid to help with decisions around genetic testing. 🧬

People with #MND who have faced a genetic test decision are invited to share their experiences.

More info ⬇

https://t.co/CDw1KbGnvB

[Alexander @AlexSymonAllen]

Super Sam Kee

[Birstall United FC @birstall_united]

An outstanding season in both the middle of the park and defence. 41 appearances and on the scoresheet.
👏👏
❤️⚽️ #BUFC

[Birstall United FC @birstall_united]

An outstanding season in both the middle of the park and defence. 41 appearances and on the scoresheet.
👏👏
❤️⚽️ #BUFC

[Birstall United FC @birstall_united]

30’| GOAL!!!

It’s a second! The ball is cleared to the edge of the box from a corner and Sam Kee is there and from 25 yards he slams it into the top corner!

#BUFC 2️⃣ #NTFC 0️⃣

[Alexander @AlexSymonAllen]

@StokeyyG2 Rosicky

[Rikke S. Møller @FiladelfiaGene1]

Curious to know why #STXBP1 variants are causing #epilepsy?

Excitatory synapses fail to recruit inhibitory interneurons ‼️

Interestingly, Ampakines can restore interneuron recruitment and prevent hyperexcitability‼️

A must read from @LabPerrier 👏💪👇
@curestxbp1 @IngoHelbig

[Ray Bradshaw @comedyray]

Liz Truss lasted 24 days less in 10 Downing Street than the Chilean Miners did underground.

[Alexander @AlexSymonAllen]

@65_deano @BCreativeCIC Well done Deano 👏

[Alexander @AlexSymonAllen]

Truly amazing story 💔

[Genomics England @GenomicsEngland]

This week on The G Word, hear the powerful story of finding answers for Mila, who was diagnosed with Battens Disease: https://t.co/imTs90yvrY

Her mother, Julia, and her doctor, @timyu, join our Chief Medical Officer, @Rich_Genomics.

@stopbatten

[Konrad Platzer @platzer_k]

#CAPRIN1 is a new AD NDD #MorbidGene 👌 👇 @lisapavinato @BrunhildeWirth @DeRubeisLab @Brain1878

https://t.co/nwHHUPNqcN

[Alexander @AlexSymonAllen]

Boy wonder is back 💥

[Partick Thistle FC @PartickThistle]

16'| Dundee 0 v 1 Partick Thistle

GOAL DETAIL: After good play from the Jags, AIDAN FITZPATRICK fires home a shot from just outside the box.

#DFCvPTFC #WeAreThistle

[Gloucester Rugby 🍒 @gloucesterrugby]

Club Statement | Ed Slater

Gloucester Rugby is deeply pained to announce that Ed Slater has been diagnosed with Motor Neurone Disease (MND).

Everyone at Gloucester Rugby is entirely committed to supporting Ed and his family in every way we can.

Full statement below.

[Rikke S. Møller @FiladelfiaGene1]

Today is #CDKL5 awareness day 💜

CDKL5 deficiency disorder is a rare genetic condition that include early-onset, difficult to treat #epilepsy and neurodevelopmental impairment that affects cognitive, motor, speech and visual function.

Learn more at https://t.co/ZZt8A5qCOb 💜