Steve Laurie(@SteveLaurie42) 's Twitter Profileg
Steve Laurie

@SteveLaurie42

Celt in BCN. Genetic sleuth at @cnag_eu with focus on rare diseases - @ConnectRD, @Solve_RD, @EJPRareDiseases. All views expressed are my own.

ID:409576747

calendar_today10-11-2011 23:06:36

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Steve Laurie(@SteveLaurie42) 's Twitter Profile Photo

Flying route of my first ever flight this morning (EDI=>DUB), for the first time in a VERY long time. Aer Lingus used to operate a propeller plane back in the day. A little disappointed to see I am on a dodgy Boeing. On the plus side I'm not seated near the 'emergency' exits. 😉

Flying route of my first ever flight this morning (EDI=>DUB), for the first time in a VERY long time. Aer Lingus used to operate a propeller plane back in the day. A little disappointed to see I am on a dodgy Boeing. On the plus side I'm not seated near the 'emergency' exits. 😉
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Steve Laurie(@SteveLaurie42) 's Twitter Profile Photo

Not often (ever?) I align with major UK Conservative party policies, and less so in recent years.

However the complete ban on smoking going forwards, being introduced by Sunak today, is a no-brainer in terms of quality of life for all.

Credit where credit is due! 👍

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Hospital Sant Joan de Déu Barcelona CAT(@SJDbarcelona_ca) 's Twitter Profile Photo

🆕📣 Nova jornada sobre malalties minoritàries: Únicas SJD Talks, una iniciativa de @fundlacaixa CaixaResearch  i @sjdbarcelona_ca

Amb experts internacionals, representants governamentals i associacions de pacients i famílies.

👉 Inscriu-te: bit.ly/UnicasTalkscat

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Edward Hunter Christie(@EHunterChristie) 's Twitter Profile Photo

A very insightful comment by Garry Kasparov, effectively a diagnostic test (which I also use) for sniffing out those agitators in the United States who serve the Russian state:

'Many parties can arrive independently at the same truth, but not at the same lie.'

1-3

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Steve Laurie(@SteveLaurie42) 's Twitter Profile Photo

Final session at kicks off with Karen Miga explaining why we need a human pangenome as a true reference genome. Not least so we can investigate the important regions & populations we have largely ignored in the last 20 years.

It's going to be disruptive. 🙂

Final session at #HGM2024 kicks off with @khmiga explaining why we need a human pangenome as a true reference genome. Not least so we can investigate the important regions & populations we have largely ignored in the last 20 years. It's going to be disruptive. 🙂
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Steve Laurie(@SteveLaurie42) 's Twitter Profile Photo

The incredible Prof Leon Mutesa from Kigali first got interested in genetics when breeding rabbits as a child, and observing the effects of inbreeding.

A very worthy winner of the HUGO Africa prize. Amazing diverse research output.

The incredible Prof Leon Mutesa from Kigali first got interested in genetics when breeding rabbits as a child, and observing the effects of inbreeding. A very worthy winner of the HUGO Africa prize. Amazing diverse research output.
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CNAG(@cnag_eu) 's Twitter Profile Photo

🗓️Great day at !

🌍Our Director, Ivo Gut, presented the role of genomics in advancing : B1MGProject

🧬Our Data Analyst, Steve Laurie, introduced the results from Solve-RD, increasing diagnostic rate in

🗓️Great day at #HumanGenomeMeeting! 🌍Our Director, Ivo Gut, presented the role of genomics in advancing #PrecisionMedicine: @B1MG_Project 🧬Our Data Analyst, @SteveLaurie42, introduced the results from @Solve_RD, increasing diagnostic rate in #RareDiseases #HGM2024 #HUGO2024
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Steve Laurie(@SteveLaurie42) 's Twitter Profile Photo

It's almost showtime. If you are at and interested in Rare Disease research at a European level, please come across to the Chemistry department to hear about Solve-RD and CNAG role in the future of RD-Research in Europe, and other interesting talks to follow.

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Steve Laurie(@SteveLaurie42) 's Twitter Profile Photo

Tour de force from the wonderful Sir Walter Bodmer at giving the audience a lesson in the history of human genomics.

He was there at the start, and he is still going strong.

Handled the first 10 mins with slides in absentia without missing a beat.

Tour de force from the wonderful Sir Walter Bodmer at #HGM2024 giving the audience a lesson in the history of human genomics. He was there at the start, and he is still going strong. Handled the first 10 mins with slides in absentia without missing a beat.
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Steve Laurie(@SteveLaurie42) 's Twitter Profile Photo

Aula Magna at Sapienza University of Rome is a spectacular setting for this year's Human Genome Meeting.

Lunch was wonderful too, accompanied by comments from the waiters at all the stranieri asking for caffe lungo. It was espresso or nothing, and milk if you could find it. 😀

Aula Magna at Sapienza University of Rome is a spectacular setting for this year's Human Genome Meeting. Lunch was wonderful too, accompanied by comments from the waiters at all the stranieri asking for caffe lungo. It was espresso or nothing, and milk if you could find it. 😀
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Steve Laurie(@SteveLaurie42) 's Twitter Profile Photo

The Aula Magna at the Sapienza University of Rome is a spectacular setting for .
Lunch was delicious, accompanied in style by complaints from the waiters when the stranieri asked for caffe lungo. It was espresso or nothing, and milk if you could find it. 😀

The Aula Magna at the Sapienza University of Rome is a spectacular setting for #HGM2024. Lunch was delicious, accompanied in style by complaints from the waiters when the stranieri asked for caffe lungo. It was espresso or nothing, and milk if you could find it. 😀
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Steve Laurie(@SteveLaurie42) 's Twitter Profile Photo

Feeling very privileged to have the opportunity to visit La Città Eterna again. It's been over 30y. 😱
I'll be visiting the Trevi fountain this afternoon to make sure I get back again sooner.

Maybe 1000 lira wasn't enough?
Don't know what the protocol is in a cashless world.🤷‍♀️

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Victor Kattan(@VictorKattan) 's Twitter Profile Photo

25 scholarships under the Ireland-Palestine Scholarship Programme (IPSP) for the 2024-2025 academic year from applicants living in the occupied Palestinian territory are currently available. Further details in the link below! dfa.ie/prep/ramallah/…

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Steve Laurie(@SteveLaurie42) 's Twitter Profile Photo

I reached a small milestone today. 😀

Starting off the celebrations with a webinar for our Solve-RD collaborators from _ERNRITA and EpiCARE to help with the interpretation of results from CNV re-analysis of their exome sequencing data. We've resolved more RD cases!

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Institut Bonanova(@InsBonanova) 's Twitter Profile Photo

🔴Curs d'indicadors sanitaris. La importància de la presa de decisions basada en dades.

📍 Institut Hospital del Mar FP
🗓️ 5 sessions del 16 al 30 d'abril
⏲️ 16 h a 18 h.

Més informació:
🔗 bit.ly/indfp24

Hospital del Mar

🔴Curs d'indicadors sanitaris. La importància de la presa de decisions basada en dades. 📍 Institut Hospital del Mar FP 🗓️ 5 sessions del 16 al 30 d'abril ⏲️ 16 h a 18 h. Més informació: 🔗 bit.ly/indfp24 @hospitaldelmar #indicadors
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BcnEixample(@Bcn_Eixample) 's Twitter Profile Photo

El Servei d’Atenció, Recuperació i Acollida tindrà una segona seu a la ciutat, situada a l' , al carrer de Muntaner, 200.

El SARA forma part de la xarxa de serveis municipals per atendre casos de violències masclistes.

via.bcn/z9Nq50R4Po5

El Servei d’Atenció, Recuperació i Acollida #SARA tindrà una segona seu a la ciutat, situada a l'#Eixample, al carrer de Muntaner, 200. El SARA forma part de la xarxa de serveis municipals per atendre casos de violències masclistes. via.bcn/z9Nq50R4Po5
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Isabelle Delon(@IsaDelon) 's Twitter Profile Photo

We are hiring Principal Clinical Scientists to join the senior team of the Rare Disease service at the Cambridge Genomics laboratory.
NHS East Genomics⁩ ⁦ACGS⁩ ⁦Cambridge University Hospitals NHS⁩ careers.cuh.nhs.uk/current-vacanc…

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Steve Laurie(@SteveLaurie42) 's Twitter Profile Photo

Finally some proper Scottish style rain in Barcelona today. 🙂 Here's hoping the water infrastructure is managing to capture most of it so the water restrictions won't have to go on all summer. Unfortunately coinciding with school holidays but we can't have everything.

Finally some proper Scottish style rain in Barcelona today. 🙂 Here's hoping the water infrastructure is managing to capture most of it so the water restrictions won't have to go on all summer. Unfortunately coinciding with school holidays but we can't have everything.
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