RD-Connect

An integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research

[RD-Connect @ConnectRD]

What is RD-Connect and how does it advance research on #RareDiseases? Watch our explanatory video https://t.co/AvKQLpsb44

[Solve-RD @Solve_RD]

The data infrastructure is the backbone of @Solve_RD
🔹 RD-Connect GPAP @ConnectRD to collect & analyse 🧬 data
🔹 @EGAarchive to archive genomic data
🔹 Sandbox @molgenis: testing ground for data analysts to explore & apply novel tools

[CNAG @cnag_eu]

⏰ At 04:10PM, don't miss the session:
👉"Integration of phenotypic and genomic data for the diagnosis of rare conditions"
👩‍🔬By our Clinical Genomics Manager @LeslieMatalonga & our Data Analyst @SteveLaurie42

🔗https://t.co/K6di5MVXv7

@VEPTCOURSE #genomics #genetics #training

[RD-Connect @ConnectRD]

Join RD colleagues from across Europe for this workshop led by Sergi Beltrán, @LeslieMatalonga and @SteveLaurie42 to find out how the free to use RD-Connect GPAP can help you rapidly diagnose your RD patients.

[ERDERA @ERDERA_org]

Learn about the benefits of using the RD-Connect Genome-Phenome Analysis (GPAP) platform for rare-disease analysis through a FREE @ejprarediseases Webinar!
📍Online
📅28 June 2023
🚨No registration needed!
ℹ️Eligibility & complementary information: https://t.co/JN8uVADGJV

[Solve-RD @Solve_RD]

@ines_thiele @timyu @MolSystBiol @gulcingumus1 @eurordis @FEDER_ONG @SimonaBellagam2 @uniamofimronlus @GeneticAll_UK @SWAN_UK @Holmson69 @ConnectRD @ahoischen @cnag_eu @GeneticNijmegen @uni_tue @UMCGgenetica @ERNIthaca @ERN_RND @euro_nmd @SteveLaurie42 @SteyaertWouter @LeslieMatalonga @not_a_reptiloid @LisenkaVissers @RMdeVoer @NicolineHoogerb @kinnudreamz @b_elked @an_somm_a @itepaske1 @josegp_92 @L_F_Johansson @EGAarchive @jwmdrc @gilissenc @adam_jackson89 @deegeedeedaa A round table discussion on the future 🚀 of RD diagnostics in 🇪🇺 with @DariaJulkowska @timyu @SimonaBellagam2 Milan Macek, Olaf Riess, Christina Kyriakopoulou & our wonderful moderator Han Brunner concludes this very successful final Solve-RD meeting.
@HorizonEU @Holmson69

[Solve-RD @Solve_RD]

Solve-RD webinar on #Genomic data analysis using @ConnectRD GPAP by @LeslieMatalonga now online 👉 https://t.co/UJ5mVoDolF
Learn how to navigate through the platform & how to use some of the advanced 🆕 functionalities to (re)analyse your cases!

@SteveLaurie42 #datasharing

[RD-Connect @ConnectRD]

We are extremely happy to announce the new Genomic Analysis interface with improved user experience and new features!

👉Check it out here: https://t.co/r4OdiMOAlQ or learn more by joining the webinar organised by @Solve_RD!
Wed, 12 April 2023 at 1-2pm CT
https://t.co/FkgPE0vATK

[Solve-RD @Solve_RD]

Solve-RD webinar on genomic data analysis using @ConnectRD GPAP by @LeslieMatalonga: learn how to navigate through the platform and how to use some of the advanced 🆕 functionalities to (re)analyse your cases!

🗓️ Wed, 12 April, 1pm CEST

Register: https://t.co/GGbtNPVPva

[CNAG @cnag_eu]

The @ConnectRD GPAP, developed and hosted at @CNAGCRG, enables users to submit, share, analyse and interpret data contributing to diagnosis and gene discovery

It currently hosts phenotypic and genomic data from more than 26,500 patients and relatives!

🔗https://t.co/y0Uca1Hm2I

[RD-Connect @ConnectRD]

Great to see so many people with different areas of expertise working together simultaneously to find new diagnoses for rare disease patients and their families. @Solve_RD has been a great success in fostering collaboration in RD across Europe.

[Solve-RD @Solve_RD]

🔛Our Solvathon kicks off @cnag_eu with 25 on-site +25 online participants trying to solve many #RareDisease cases by integrated omics analysis 👩🏽‍💻👨🏽‍💻🧬

@ConnectRD @vaym88 @gagneurlab @IonSynapse @ERNIthaca @ERN_RND @euro_nmd @EpiCARE_ERN @_ERNRITA @SteveLaurie42 @LeslieMatalonga

[EGA archive @EGAarchive]

Get to know the @GA4GH #htsget implementation that enables @ConnectRD #GPAP users to visualize genomic alignments at the @EGAarchive remotely, in real time and without large downloads for clinical research and diagnosis 🔎🩺

[Solve-RD @Solve_RD]

Did you miss our Solve-RD Treatabolome webinar? Here is the recording 👉 https://t.co/QgeNGhqKP7
Learn how the database can help you to find a gene- or variant-specific #treatment for your #RareDisease patient.

@corvo_alberto @LeslieMatalonga @ConnectRD @rae_tee @LochmullerLab

[Solve-RD @Solve_RD]

Poster P13.050.D: Identification & characterisation of BMPR1A and SMAD4 germline variants in patients w/ colorectal adenomatous #polyposis.
➡️ Presented TODAY at #ESHG2022 poster session D by Solve-RD PhD student @an_somm_a from @UniklinikBonn.

#ERNGenturis @NicolineHoogerb

[CNAG @cnag_eu]

Right now!

Workshop W11 on European Reference Networks #ERN at #ESHG2022 @SteveLaurie42 giving an overview of the main #research initiatives & outcomes involving ERNs in @Solve_RD

@ConnectRD @cnag_eu @ERN_RND @ERNIthaca @euro_nmd

[Solve-RD @Solve_RD]

Workshop W11 on European Reference Networks #ERN at #ESHG2022:
📅 Monday, 13 June, 14:00-15:30 CEST
Solve-RD partner @SteveLaurie42 will give an overview of the main #research initiatives & outcomes involving ERNs in @Solve_RD.

@ConnectRD @cnag_eu @ERN_RND @ERNIthaca @euro_nmd

[Solve-RD @Solve_RD]

🆕 publication jointly initiated by @Solve_RD & @eurogentest: Recommendations for #WGS in #diagnostics for #RareDiseases.
👉🏽 https://t.co/q9iUQclTDO

Endorsed by the Solve-RD Steering Committee, the representing #ERN s, European Board of Medical Genetics (EBMG) & @eshgsociety.

[CNAG @cnag_eu]

Not to miss ➡️ “The @ConnectRD Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases” outlining this collaborative resource developed at #CNAGCRG which has helped diagnose 100s of rare disease patients

https://t.co/nvZ7oG2ctZ

[RD-Connect @ConnectRD]

@MatchMExchange @WileyBiomedical @AdaHamosh @HeidiRehm We are delighted to be partners in @MatchMExchange. This invaluable initiative helps solve Rare Disease cases around the world by enabling clinical researchers to find similar patients to theirs, living half a world away,and thus identify underlying genes responsible for disease.

[CNAG @cnag_eu]

📢 #JobAlert #CNAGCRG

➡️ DevOps Engineer to participate in the definition and implementation of @ConnectRD GPAP and @3TR_IMI infrastructures. The work will be mostly geared towards the infrastructure needs of @genomed4all

ℹ️ https://t.co/xlDf19oFsl

[Solve-RD @Solve_RD]

🆕 Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes: a collaborative multicentre endeavour within the project Solve-RD.
@an_somm_a @itepaske1 @josegp_92 @LValleResearch @RMdeVoer @NicolineHoogerb #genturis

👇🏽
https://t.co/lyuiwFQ26k

[CNAG @cnag_eu]

📢 #JobAlert #CNAGCRG

➡️ DevOps Engineer to participate in the definition and implementation of @ConnectRD GPAP and @3TR_IMI infrastructures. The work will be mostly geared towards the infrastructure needs of @genomed4all

ℹ️ https://t.co/xlDf19oFsl