Thanks for sharing this. A reminder that parenting rare kids isn't *all* doom and gloom - but do need to plan really far ahead, and cherish the little wins when they come 😊

#RareDiseaseLife #GRIN1

We're so excited for Engage Live, and with less than 3 weeks to go, it's your last chance to book.

Take a look at the full programme and bag a ticket before they sell out at:

publicengagement.ac.uk/engage-confere…

📣 To mark 10 years of commitment to patient partnership and 20 years since our first patient theme issue, The BMJ will publish a special issue led by #patients on 13 July 2024.

You can submit a proposal here forms.gle/EWe264NuvgbzU4… by the end of April.
bmj.com/content/385/bm…

Excellent work here! Thank you Nicky Whiffin and your whole team for this breakthrough, for participants in the National Genomics Research Library Genomics England and far beyond 👏👏👏

We’ve been celebrating the second anniversary of our #SharedCommitment to #PublicInvolvement 🎉

Excellent public involvement improves the quality and impact of research.

👀 Read Academy of Medical Sciences's top tips to find out how to do it well.

Congratulations to Richard Scott and best of luck for this next chapter! So pleased that we can continue our collaboration, firmly focused on what matters to patients and their families 🥂

Happy #InternationalWomensDay
Great to be working with these two, and many more, advocating for countless other mothers, daughters, sisters and everyone else touched by #Genomics

Helen White Rebecca Middleton

Thank you Hilary and team for seeking patient / family views on the draft of this article and FAQs. We appreciate it was not something many scientists often do but it definitely resulted in a more accessible product (and hopefully a wider audience) 👏👏👏

Calling all #paediatricians working in England! Please complete our short survey on your experience of using genomic tests in the NHS Genomic Medicine Service. LINK HERE:
redcap.slms.ucl.ac.uk/surveys/?s=CEJ…

Population, Policy and Practice Department BACCH Genomics England British Academy of Childhood Disability

Wow!

👏👏👏

1 in 17
will one day find they have a
#RareDisease .

We found ours in 2017
Number 1, n = 1
Now he's a coachload
Next he'll be a century

Tomorrow our Zoom universe
will blossom into hugs and high fives.
Rarely together, we will be Rare together.
Who knows what we'll find then?

Scotland’s research community is being encouraged to submit nominations for two awards recognising individuals who have had a positive impact on patient and public involvement (PPI) in Scotland. CSO(Health)Scotland Anna Dominiczak

Read more and nominate 👉 nhsresearchscotland.org.uk/news/recognisi…

Final week to apply for these exciting advocacy roles! If you've consented to share your/child's whole genome in the National Genomics Research Library (curated by Genomics England) you're eligible to come and influence what it's is used for. Happy to discuss further, DMs open 👍

Calling UK patient advocates! If you have lived experience of cancer or a rare health condtion, you could be the next leader of the Participant Panel Genomics England - please see below for details, and share widely among your networks. Happy to chat to anyone interested 👍

#RareDiseaseDay is about raising awareness of people living with genetic, rare and also #undiagnosed conditions.

Every year around 6,000 children are born in the UK with a #GeneticCondition so rare that it doesn't have a name.
Learn more with our support network SWAN UK (syndromes without a name).

🥳In collaboration with Research Works Ltd, we've published the first outputs of our What Words To Use project!

🔍The rapid evidence review synthesizes existing evidence on understanding and communicating about TREs and SDEs.

🔗Read the review here: understandingpatientdata.org.uk/what-words-use

Do you support the call for a new National Carers Strategy? The APPG on Carers has launched a survey to gather views from unpaid carers and organisations who represent them on what a future strategy should aim to achieve. Click here to have your say!
surveymonkey.com/r/5SX9K7K

Great opportunity for someone to use their experience of genetic testing to make a real difference to the genomics community.

Calling UK patient advocates! If you have lived experience of cancer or a rare health condtion, you could be the next leader of the Participant Panel Genomics England - please see below for details, and share widely among your networks. Happy to chat to anyone interested 👍