Hello 👋 Just checking, do we have an Rare Disease community here on Mastodon?
#RareDisease #RareDiseaseIreland #RareDiseaseCommunity #UsherSyndrome

Here's one of the latest in a flurry of fantastic papers that use #GeneOntology: in @FrontiersIn #CellandDevBio, Schäfer et al. examine USH1C/harmonin's role in the cWnt pathway, a step in understanding #UsherSyndrome. Keep up the great work and thanks for citing us!

We're asking YOU to make the pledge to join #TeamUSHIreland who are fundraising for Usher Syndrome Ireland in 2023 💪🏽

100% of funds raised goes to the mission as we are a charity run entirely by volunteers for those affected by #UsherSyndrome (a rare condition causing progressive sight & hearing loss). We might be small, but our mission is mighty, & we need your help. Pls consider fundraising for us!

For info, email: oontact@usherireland.org

#SupportUs #fundraising #Runners #MastoDaoine

🔊 BREAKING NEWS

Could tears tell us more about Usher syndrome?

Usher Syndrome Ireland & Stichting Ushersyndroom intends to find out by funding a novel research study for USH1B together!

We're very excited as it's the first time Usher Syndrome Ireland is funding #USH research! 🎉

Please learn more about this exciting research news here via link: https://usherireland.org/ush1b-research-study

#UsherSyndrome #USH1B #Research #Study #Christmas #TogetherWeCan #collaboration #science #researchers

It’s the final week of our Christmas fundraiser campaign! When you donate to this campaign, you’ll get a collection of delicioUSH recipes as a thank you! This week’s recipes are all about using your leftovers from the big day such as:

• Trish’s Leftover Turkey Stir-fry
• Mashed Potatoes & Turkey Pancakes
• Leftover Ham with Creamy and Cheesy Pasta
• Leftover Turkey Curry
• Leftovers Soup

Yum! Donate now via link:. https://www.paypal.com/donate/?hosted_button_id=CVNLTDHJYCLXC

#UsherSyndrome #Recipes #donate #DonateToSupport

Greetings all! I just re-instanced to marry two aspects of me: #Technology and #SoftwareDevelopment, and #lgbtq. Former software engineer/lead now disabled with primarily #fibromyalgia and #BipolarDisorder.

Interests: #Cats #Pinball #DisabilityRights #UsherSyndrome #HardOfHearing and so much more!

#introduction

What is it like to cook with Usher syndrome?

It’s week three of our Christmas campaign. Donate today, to support and give the gift of hope of sight & sound to children & adults living with Usher syndrome (USH). As a thank you for your donation, you’ll receive a link to access Christmas recipes from our USH community and friends.

Link: https://www.paypal.com/donate/?hosted_button_id=FR42QKV2G4MES

#UsherSyndrome #delicioUSHly #GiftOfHope #Christmas #Charity #TogetherWeCan #SupportUSH #CureUSH #Recipes #RareDisease #USH

Deborah, on behalf of our Board of Directors, was delighted to make a presentation to the donor of €5,000, pledged to us in our 2021 Christmas campaign, of a beautiful print which was very kindly donated to us by @Tupp_ed . The donor, who wishes to remain anonymous, certainly was surprised and delighted at receiving such a lovely gift! 🌟

#UsherSyndrome #ThankYou #Donation #PoolbegChimneys #Print #Art #IrishLandmarks #Ireland #TogetherWeCan

Deborah, on behalf of our Board of Directors, was delighted to make a presentation to the donor of €5,000, pledged to us in our 2022 Christmas campaign, of a beautiful print which was very kindly donated to us by @Tupp_ed . The donor, who wishes to remain anonymous, certainly was surprised and delighted at receiving such a lovely gift! 🌟

#UsherSyndrome #ThankYou #Donation #PoolbegChimneys #Print #Art #IrishLandmarks #Ireland #TogetherWeCan

A wonderful evening with The Wheel celebrating the many unsung heroes in organisations & charities across Ireland and of which, Deborah from Usher Syndrome Ireland was nominated for and received special acknowledgement for her work!! The evening also celebrated the work of Deirdre Garvey with a very special thank you for her remarkable 22 years at the Wheel! 👏🏼👏🏼

#Heroes #UsherSyndrome #ThankYou #celebration #TogetherWeCan #NonProfit #Charity #Volunteers #WellDone #IrishCharity

🎅All funds raised from this campaign is going towards hosting and running events in 2023, and into our USH research pot, to support and give hope to children and adults living with Usher syndrome (USH), a cruel, rare progressive condition beginning in childhood leading to deafblindness by midlife.

#UsherSyndrome #USH #NonProfit #charity #MastoDaoine #SupportUSH #CureUSH

❄️❄️ Brrr, it's a VERY cold Sunday which we think calls for some home baking! How about an easy apple pie with no crust topped some yummy custard? Well, lucky you, 'cause we've got the recipe for that in our week two collection! Try our 'Peggy No CrUSHt Pie', one of several recipes for you to try, by clicking the link here: https://usherireland.org/delicioush-recipecampaign

#delicioUSHly #UsherSyndrome #Christmas #Recipe #Recipes #ApplePie #Baking #Sunday #Fundraiser #MastoDaoine #ChristmasRecipe #RecipeOfTheDay #Support

❄️ It's week 2 of our Christmas fundraiser, DelicioUSHly Good Christmas Recipes ❄️

It's easy, donate as little or as much as you like to get a collection of recipes. More info 👉🏻 https://usherireland.org/delicioush-recipecampaign

Donations will go towards events in 2023 & into the USH research pot to give support and hope, to children and adults living with Usher syndrome (USH).

#UsherSyndrome #delicioUSHly #christmas #MastoDaoine #recipes #fundraiser #NonProfit #support #charity #KidsRecipe #EasyRecipe

Giving our fundraising campaign, DelicioUSHly Good Christmas Recipes, a shot here on Mastodon!

❄️Donate as little as €1 to get delicioUSHly good Christmas recipes to help raise funds to provide support and hope to children and adults living with Usher syndrome (USH), a rare progressive condition that begins in childhood leading to deafblindness by mid-life.

https://www.paypal.com/donate/?hosted_button_id=CKB3WEWPTJGTJ

#Recipes #Fundraiser #Donate #Boost #UsherSyndrome #USH #Christmas #Help

We’re running a Christmas campaign to raise much needed funds, & we were wondering:

👉 how #MastoDaoine feel about seeing such campaigns here?
👉 how other charities/non-profits found running such campaigns here? It is worth trying it out here?

(our #charity is run entirely by volunteers, we raise funds to support, advocate, & fund global USH research to find a treatment for #UsherSyndrome)

#NonProfits #fundraising #FundRaisingTactics #AskMastodon #Help #Charities #Donations #AskMastodonWorld

#introduction

Friends call me Frosty. ☃️ I'm #deafblind due to #UsherSyndrome. My interests are many & varied. I enjoy learning #Deutsch 🇩🇪, #italiano 🇮🇹, #español 🇪🇸 & #日本語 🇯🇵. I may occasionally post something corny in one of said languages like "Mama, ich habe unser Meerschweinchen in der Toilette gefunden!"/"Nicht schon wieder! Trockne es sofort ab!" I also enjoy building #LEGO sets & plan to post progress pics here. I love reading history, especially ancient 📜 & naval ⚓️. (1/2)

[repost as I moved servers]

Welcome new and old! Instead of the usual mini bio that you can read on my profile anyway, let me introduce you to Usher Syndrome, the “leading” cause of deaf blindness and an unwelcome part of my family.

1/3

See:

https://en.wikipedia.org/wiki/Usher_syndrome

https://www.usher-syndrome.org/

https://www.usher1f.org/

Also we have a #cat and #rabbit :-)

#introduction #introductions #UsherSyndrome

@Mill_lab @EarthlyPowers indeed! Each platform serves a useful but different purpose, with FB and IG useful for engaging with the #UsherSyndrome community. We found Twitter very useful for connecting with researchers, research news, connecting with other like-minded organisations, and engaging with policy makers. But there has been a noticeable downturn in engagement on FB, so perhaps patients themselves are becoming tired of a ad-driven sites and turn elsewhere 🤷‍♀️

Apologies for all the #s as we try to find members of our community! Do say hi if this is you 👋

#Introduction #MastoDaoine #IrishTwitter #UsherSyndrome #USH #NonProfit #Charity #IrishCharity #VisualImpairment #HearingLoss #Research #RareDisease #Genetics #GeneTherapy #CRISPR #AON #Ophthalmology #Audiology #Disability #Accessibility #IrishMastodon #RetinitisPigmentosa #RP #CochlearImplants #HearingAids

It’s really great to see so many here on #MastoDaoine are already adding Alt Text to their images, and are encouraging other tooters (is that the right word?) to do the same!

Tip: Another way to improve accessibility here is to ensure videos have captions/subtitles on them ✔️

#Accessibility #a11y #Inclusion4All #IrishTwitter #UsherSyndrome #HearingLoss