Genomics England @GenomicsEngland
We’re working to enable faster and deeper genomic research, to bring genomic healthcare to all who need it. genomicsengland.co.uk London Joined June 2013-
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There's still time to register for our research seminar tomorrow, 30 April, 2 to 3pm. This month, we'll be hearing about our Cancer 2.0 initiative and the Generation study, with Emma McCargow, Rowan Howell and Amanda Pichini 🔬 Register for free here: genomicsengland.co.uk/events/researc…
📣 Help us reach more families this Undiagnosed Children's Day by sharing our reel! 📣 @SWAN_UK is the only dedicated community for UK based families of children aged 0-25 years old who are searching for a genetic diagnosis. #UCD2024 #SyndromeWithoutAName ow.ly/CCLT50RoLoA
Happy Undiagnosed Children's Day! Around 6,000 children are born every year in the UK with a genetic condition likely to remain undiagnosed. There are so many families that need our support. Will you share this post to help them find us sooner? #UCD2024 #SyndromesWithoutAName
Each year, around 6,000 children are born in the UK with a genetic condition that will likely remain undiagnosed. Today on Undiagnosed Children's Day, we're highlighting @SWAN_UK, a support community for families affected by a syndrome without a name. ow.ly/wgKu50RfYMa
Today is National DNA Day! We're revisiting our podcast episode with Dr Francis Collins, co-leader of the landmark Human Genome Project, where he discussed his journey, and his thoughts on what's next in the world of genomics 🧬 Listen here: ow.ly/xpoC50QLOZw #DNADay2024
It's Undiagnosed Children's Day on 26 April. Check out our previous podcast on the impact of 'no primary findings' results from genomic tests and the role of hope🎙️ Listen here: ow.ly/4gHI50ReQEs @JanaGurasashvi1 @LouiseFish1 @CelineLewis23 @thebeatonclan1 @SWAN_UK
UK Research opportunity! Does your child have one of the genetic conditions listed here? Take part in the GenROC study to expand information resources that may help to provide better care for patients and their families. Scan the QR code or email [email protected]
Join us in London on 9 July for the Genomics England Research Summit. Our speakers and posters will cover the latest in genomics and cancer, rare conditions, emerging technologies and healthcare innovations 🧬 Register for free here: ow.ly/NN6X50Rm8bT #GERS2024 #Genomics
Join us in London on 9 July for the Genomics England Research Summit. Our speakers and posters will cover the latest in genomics and cancer, rare conditions, emerging technologies and healthcare innovations 🧬 Register for free here: ow.ly/NN6X50Rm8bT #GERS2024 #Genomics
Join us for our monthly research seminar on 30 April, 2-3pm. This month, we'll be hearing about initiatives within Genomics England, from Prabs Arumugam, Emma McCargow and Amanda Pichini 🔬 Register for free by visiting ow.ly/E5fI50RhW90
RNA vs DNA, what's the difference? Read the latest Genomics 101 blog to find out 🧬 ow.ly/76JE50Rg0BC #DNA #RNA
Why is diversity important in genomics? Marie Nugent explains 🧬 Tune in to our latest podcast explainer, which explains the importance of diversity in the context of genomics research, in less than 10 minutes. 🎙️ Listen here: ow.ly/TnbC50QWWrv
Are you a member of the Genomics England Research Network or Discovery Forum?🔬 There's just 1 week left to submit your abstract to showcase your research at our Research Summit 🚀 Submit before the deadline on Tuesday 23 April: ow.ly/SCO950QXuFG #GERS2024
Jillian Hastings Ward: Time Out. A poem written for the Helix of Love poetry book, part of the Wellcome funded EPPiGEN project at Brighton and Sussex Medical School. To read more about the project, please visit ow.ly/SauP50QIFoX @HastingsJ123 @wellcometrust @BSMSMedSchool
Do you now someone with a child that has an undiagnosed condition? Let them know about @SWAN_UK - a community, run by Genetic Alliance UK, of support for families with children living with a syndrome without a name, or SWAN.
Do you now someone with a child that has an undiagnosed condition? Let them know about @SWAN_UK - a community, run by Genetic Alliance UK, of support for families with children living with a syndrome without a name, or SWAN.
Amazing work by @nickywhiffin and team including @quenchentin and @AnneOtation 🌟👏 This breakthrough is a great example of the power of new sequencing methods to uncover novel diagnoses for patients🧬
Amazing work by @nickywhiffin and team including @quenchentin and @AnneOtation 🌟👏 This breakthrough is a great example of the power of new sequencing methods to uncover novel diagnoses for patients🧬
The deadline to submit your abstracts to showcase your research at the Genomics England Research Summit has been extended! 🔬 Are you a member of the Genomics England Research Network? Submit before the deadline on Tuesday 23 April: ow.ly/SCO950QXuFG #GERS2024
There's still time to register for tomorrow's Research Environment Training Session (9 April from 1.30 - 3pm), which will be an introduction to the Research Environment 🔬 Register to join fellow Research Network or Discovery Forum members via this link: ow.ly/g3KT50R6Evm
Registration is open! 📣 Join us on 9 July for the Genomics England Research Summit. Our speakers will share valuable insights on genomics and cancer, rare conditions, emerging technologies & healthcare innovations 🧬 #GERS2024 Secure your spot for free: ow.ly/zYty50QRoqQ
What is genetic or genomic testing? Ellen Thomas explains 🧬 Tune in to our latest podcast explainer, which explains genetic and genomic testing, why someone might do a test, and how they are performed, in less than 10 minutes. 🎙️Listen here: ow.ly/a2iX50QWQ1M
Genomics Education @genomicsedu
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NHS Genomic Medicine .. @NHSgms
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Today, April 26, is Undiagnosed Children’s Day, an annual awareness day founded by @GeneticAll_UK @SWAN_UK to spread the word about what it means to be affected by a syndrome without a name, also known as an undiagnosed genetic condition geneticalliance.org.uk
Today is a day for all those people who have yet to receive a diagnosis for themselves or their child. It can be a difficult place to be, but luckily there is a fabulous organisation @SWAN_UK who can help! #udcd2024
Happy Undiagnosed Children's Day! Around 6,000 children are born every year in the UK with a genetic condition likely to remain undiagnosed. There are so many families that need our support. Will you share this post to help them find us sooner? #UCD2024 #SyndromesWithoutAName
📣 Help us reach more families this Undiagnosed Children's Day by sharing our reel! 📣 @SWAN_UK is the only dedicated community for UK based families of children aged 0-25 years old who are searching for a genetic diagnosis. #UCD2024 #SyndromeWithoutAName ow.ly/CCLT50RoLoA
Happy Undiagnosed Children's Day! Around 6,000 children are born every year in the UK with a genetic condition likely to remain undiagnosed. There are so many families that need our support. Will you share this post to help them find us sooner? #UCD2024 #SyndromesWithoutAName
Thank you to all the children, families, teachers, health professionals and volunteer parent reps raising awareness this year. Can you help families find the support they need from @GeneticAll_UK support network @SWAN_UK sooner? #UCD2024 #SyndromesWithoutAName 🧬 🦢
Happy Undiagnosed Children's Day! Around 6,000 children are born every year in the UK with a genetic condition likely to remain undiagnosed. There are so many families that need our support. Will you share this post to help them find us sooner? #UCD2024 #SyndromesWithoutAName
Tomorrow marks #UndiagnosedChildrensDay 💫 We at RAiN stand in support of children, young people & families undergoing the 'diagnostic odyssey' and support the amazing work that @IrelandSwan and @SWAN_UK do to support children and families with 'a syndrome without a name' 🧬
It's Undiagnosed Children's Day on 26 April. Check out our previous podcast on the impact of 'no primary findings' results from genomic tests and the role of hope🎙️ Listen here: ow.ly/4gHI50ReQEs @JanaGurasashvi1 @LouiseFish1 @CelineLewis23 @thebeatonclan1 @SWAN_UK
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Join us in London on 9 July for the Genomics England Research Summit. Our speakers and posters will cover the latest in genomics and cancer, rare conditions, emerging technologies and healthcare innovations 🧬 Register for free here: ow.ly/NN6X50Rm8bT #GERS2024 #Genomics
UK Research opportunity! Does your child have one of the genetic conditions listed here? Take part in the GenROC study to expand information resources that may help to provide better care for patients and their families. Scan the QR code or email [email protected]
Thanks to @proudcharlotte1 for sharing her story living with Osteogenesis Imperfecta, more commonly known as #BrittleBoneDisease. Charlotte has had over 50 fractures. But that hasn't stopped her completing over 15 half marathons! #OsteogenesisImperfecta
Thank you @GeneticAll_UK for the brilliant opportunity to share my story about living with a rare disease 🙌🏻 Blog post published today! ⬇️ geneticalliance.org.uk/news/charlotte… #awareness #raredisease #osteogenesisimperfecta
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
Jillian Hastings Ward: Time Out. A poem written for the Helix of Love poetry book, part of the Wellcome funded EPPiGEN project at Brighton and Sussex Medical School. To read more about the project, please visit ow.ly/SauP50QIFoX @HastingsJ123 @wellcometrust @BSMSMedSchool
Last week I joined an excellent discussion on the ethics of scientific innovation @LBS around the critical importance of regulatory, diversity, data privacy and patient involvement #PPIE in #PrecisionMedicine. Today we'll see how they each apply to Expanded Access Programmes #EAP
🧠 Pleased to announce that next week, at the Annual Cell and Gene Therapy Conference, our Chief Executive @RebeccaMiddle16 will be talking patient involvement with rare disease and genomics industry leaders. @economistimpact #HereditaryBrainAneurysms #BrainAneurysmAwareness
Secondly, what a testament to @nickywhiffin and the global rare disease community that this was able to go from an observation in @GenomicsEngland to a preprint with over 100 observed cases in just over a month. We truly live in a golden age for disease genetics. (3/3)
Do you now someone with a child that has an undiagnosed condition? Let them know about @SWAN_UK - a community, run by Genetic Alliance UK, of support for families with children living with a syndrome without a name, or SWAN.
'Joining SWAN UK right at the beginning of our journey was an absolute lifeline as we waded through the relentless waves of we don't know.' Help more families, affected by undiagnosed genetic conditions, find us sooner. ow.ly/2jpN50R4qA6 #UCD2024 #SyndromesWithoutAName
Excellent work here! Thank you @nickywhiffin and your whole team for this breakthrough, for participants in the National Genomics Research Library @GenomicsEngland and far beyond 👏👏👏
Would you believe me if I told you that a single variant in a non-coding RNA explains ~0.5% of all undiagnosed individuals with neurodevelopmental disorders (NDD) in @GenomicsEngland ??? I didn’t initially either, but here is the story of RNU4-2 🧵1/9
Would you believe me if I told you that a single variant in a non-coding RNA explains ~0.5% of all undiagnosed individuals with neurodevelopmental disorders (NDD) in @GenomicsEngland ??? I didn’t initially either, but here is the story of RNU4-2 🧵1/9
Thrilled to share our latest discovery on a spliceosomal snRNA gene causing neurodevelopmental disorders: medrxiv.org/content/10.110… Thank you to everyone who contributed; it’s been a phenomenal effort to collaborate with clinicians and researchers for what would help many families!
🔬 Dive into genomics ethics! Check out 'Genomics 101: What is ethics' from @GenomicsEngland. Will Navaie, Head of Ethics Operations, explores how principles like justice and autonomy shape healthcare practices and the future of genomics. Read more ⬇️ #Genomics #Ethics
"In ethics, we say that the needs of science should never outweigh the needs of society." Read the blog to learn more about ethics in genomics. ow.ly/pOfL50QYun9 #ethics #genomics
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Registration is open! 📣 Join us on 9 July for the Genomics England Research Summit. Our speakers will share valuable insights on genomics and cancer, rare conditions, emerging technologies & healthcare innovations 🧬 #GERS2024 Secure your spot for free: ow.ly/zYty50QRoqQ
Hear OHC Director, Matthew Wood, talk on the @BBC about the UK Rare Therapies Launch Pad and how we're developing new treatment pathways with @MHRAgovuk @GenomicsEngland. Thank you @natashaloder @SandraKanthal for sharing how Mila's legacy inspires us: bbc.co.uk/programmes/m00…
Thanks to the @BBC, @BBCRadio4, @natashaloder & Sandra Kanthal for highlighting how we are turning Mila's story into a new treatment pathway, and @MHRAgovuk, @GenomicsEngland, @OHRareDisease, @UniofOxford for pushing the Rare Therapies Launch Pad forward. This is Mila's legacy.
bit.ly/49iTgUF @GenomicsEngland ’s podcast series, “The G Word,” offers bi-weekly episodes that delve into genomics research and real-life stories of those affected by rare conditions and cancer, aiming to demystify complex scientific concepts for a broader audience.
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