#DDDStudy - Twitter Hashtag

over 3 years ago

New in our blog: This week we examine the #DDDStudy and the #genomes100k project, looking at who they recruited, what they achieved and the ways in which they have broadened our understanding of #GenomicMedicine: https://t.co/iZ3WwHESq1

genomicsedu's tweet photo. New in our blog: This week we examine the #DDDStudy and the #genomes100k project, looking at who they recruited, what they achieved and the ways in which they have broadened our understanding of #GenomicMedicine: https://t.co/iZ3WwHESq1 https://t.co/SOC6LY47CH

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Arti Patel @Arti_K_Patel

over 3 years ago

A huge accomplishment of the study was finding a diagnosis for so many children, many of whom found a home at @Unique_charity for support + information. #DDDStudy #Genomics #RareChromo https://t.co/g27wBG4haO

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James Fasham @JamesFasham

about 4 years ago

New iterative reporting from #DDDStudy #Genomics Re: likelihood of diagnosis 👍 parent-affected trio (OR=4.7) 👎 extreme prem. (OR=0.4) in utero antiepileptic (OR=0.4) maternal diabetes (OR=0.5) 🌍 Also African ancestry (OR=0.5) ➡️ more diverse reference needed

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PanelAppAus @PanelAppAus

almost 6 years ago

Not the #COVIDVIC19 or the #USElection2020 numbers but still exciting: 55 new gene-disease associations added to #RareDisease panels this month! Thanks @TeamVCGS @brynestar @ChiragVPatel79 @ZornitzaS @GenomeSeb @PanelAppTeam @AusGenomics @GenomicsEngland #DDDstudy 🧬 🙌🧬🙌🧬🙌

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The DECIPHER Project @deciphergenomic

about 6 years ago

The DDD research track now includes the number of patients identified in the @GeneDx and Radboud University Medical Center (RUMC) de novo variant dataset as described by Kaplanis et al., 2020. (https://t.co/XXIlJ47MPo) #DDDstudy

deciphergenomic's tweet photo. The DDD research track now includes the number of patients identified in the @GeneDx and Radboud University Medical Center (RUMC) de novo variant dataset as described by Kaplanis et al., 2020. (https://t.co/XXIlJ47MPo) #DDDstudy https://t.co/fi0bvvYD7w

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The DECIPHER Project @deciphergenomic

about 6 years ago

The DDD research variant track in DECIPHER has been updated and now includes variants of unknown significance in 13,451 individuals with developmental disorders in the UK #DDDstudy.

deciphergenomic's tweet photo. The DDD research variant track in DECIPHER has been updated and now includes variants of unknown significance in 13,451 individuals with developmental disorders in the UK #DDDstudy. https://t.co/hcqVEfwcGO

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Yolaine Dupont @vangroovymom

almost 7 years ago

Today was all about getting #labs to add #FLNA to #pulmonary #panels + scoping out #posters about #PVNH/FLNA. Happy to see Dr. Kini, whom I've met and presented to in #Oxford, and team get accolades. #PVNHawareness #FLNAmutation #DCX #ERMARD #NEDD4L #ASHG19 #DDDstudy

vangroovymom's tweet photo. Today was all about getting #labs to add #FLNA to #pulmonary #panels + scoping out #posters about #PVNH/FLNA. Happy to see Dr. Kini, whom I've met and presented to in #Oxford, and team get accolades. #PVNHawareness #FLNAmutation #DCX #ERMARD #NEDD4L #ASHG19 #DDDstudy https://t.co/0VGiP6IFgA

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Prof Ruth Newbury-Ecob @ruthiegene

over 7 years ago

Matt Hurles outlining a future strategy for the DDD undiagnosed. @clingensoc @RCPLondon #raredisorders #dddstudy

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Jane @Jane_genetics

almost 8 years ago

A model of collaboration we can use to guide our nhs genomic service. Happy birthday #DDDstudy. Thanks for educating us and providing a diagnosis for children @SWAN_UK

Matt Hurles @mehurles

almost 8 years ago

A team of >300 clinicians, lab scientists, counsellors, research nurses, and researchers, working for 33,500 NHS patients and parents. Best 8 years of my working life. Looking forward to the next 8 years of #DDDstudy.

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Matt Hurles @mehurles

almost 8 years ago

A team of >300 clinicians, lab scientists, counsellors, research nurses, and researchers, working for 33,500 NHS patients and parents. Best 8 years of my working life. Looking forward to the next 8 years of #DDDstudy.

Wellcome Sanger Institute @sangerinstitute

almost 8 years ago

Families of 4,500 children with rare diseases given answers over past 8 years. The Deciphering Developmental Disorders study has found 49 new conditions & published 125 papers so far. Search for diagnoses continues. #RareDisease @mehurles @GreatOrmondSt https://t.co/BuVFGt1AD5

sangerinstitute's tweet photo. Families of 4,500 children with rare diseases given answers over past 8 years. The Deciphering Developmental Disorders study has found 49 new conditions & published 125 papers so far. Search for diagnoses continues. #RareDisease @mehurles @GreatOrmondSt https://t.co/BuVFGt1AD5 https://t.co/1eMismFnln

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SWAN UK (syndromes without a name) @SWAN_UK

about 8 years ago

We are on the #DDDStudy, #100000Genomes (or SGP as it’s called in Scotland) and the #GenIEStudy as doctors believe that there is a #genetic cause for his #epilepsy. Anyone else? *LR

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Wellcome Sanger Institute @sangerinstitute

over 8 years ago

Children with unknown #developmental conditions of the #brain are one step closer to a #diagnosis as @mehurles @patrick_j_short & collaborators discover genetic changes that cause rare neurodevelopmental disorders. https://t.co/ERvaYMiY4F @BritSocGenMed #DDDstudy #raredisease

sangerinstitute's tweet photo. Children with unknown #developmental conditions of the #brain are one step closer to a #diagnosis as @mehurles @patrick_j_short & collaborators discover genetic changes that cause rare neurodevelopmental disorders. https://t.co/ERvaYMiY4F
@BritSocGenMed #DDDstudy #raredisease https://t.co/35of4CeKIw

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Rare Disease UK @rarediseaseuk

over 8 years ago

RT @GeneticAll_UK: Research like the #DDDstudy, transforming the treatment of children with rare, genetic conditions, was unthinkable before the advent of DNA sequencing technology. Find out more about what cheaper DNA sequencing means for #raredisease: https://t.co/Cd6wUmoSJr

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Genetic Alliance UK @GeneticAll_UK

over 8 years ago

Research like the #DDDstudy, that is transforming the treatment of children with rare, genetic conditions, was unthinkable before the advent of affordable DNA sequencing technology. Find out more about what cheaper DNA sequencing means for #raredisease: https://t.co/ElxZmoOWys

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Arti Patel @Arti_K_Patel

over 8 years ago

I've just uploaded a new information guide to the @Unique_charity website on #MEF2C syndrome. Click here to view the growing collection of single gene disorders guides, many of which have been produced as a result of the #DDDstudy: https://t.co/nxLHvzsxQL #Genomics

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Genetic Alliance UK @GeneticAll_UK

over 8 years ago

.@SWAN_UK have shared many inspiring stories of mums raising their swans. Happy #MothersDay to all of you! Today why not read Natalie’s story, mum to Madelyn, who was diagnosed with Smith-Magenis syndrome (SMS) through the DDD study: https://t.co/oZ4dIKRkBN #undiagnosed #DDDStudy

GeneticAll_UK's tweet photo. .@SWAN_UK have shared many inspiring stories of mums raising their swans. Happy #MothersDay to all of you! Today why not read Natalie’s story, mum to Madelyn, who was diagnosed with Smith-Magenis syndrome (SMS) through the DDD study: https://t.co/oZ4dIKRkBN #undiagnosed #DDDStudy https://t.co/ymRBiXe4jW

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Matt Hurles @mehurles

over 8 years ago

Two new clinician-lead papers enabled by #DDDstudy characterising disorders caused by mutations in BRD4 and CSNK2A1. Congrats @DDG2P and @katrinatbrown https://t.co/2XRkMjGe2R https://t.co/FDE0nhzQO4

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