Our paper on how #publics understand and relate to #science in the context of COVID-19 is out! Fabulous collaboration SolPan_SolPan+ project with Helena Machado Amelia Fiske Isabella Radhuber Susana Silva Christian Grimaldo-Rodríguez Carlo Botrugno Luca Marelli journals.sagepub.com/doi/pdf/10.117…

Such pleasure to have co-facilitated a #designthinking workshop at #6thWorldConferenceOnCDG w/ Ksenia Lebedeva. Thanks to wonderful experts Maruzah Tabasum Morava Eva Sandra P Pinto, Mel McSweeney Holly Carmichael and to Vanessa dos Reis Ferreira World CDG Organization #CDG #rarediseases

First time presenting at #ESHG2023 Truly welcoming and inspiring community European Society of Human Genetics (ESHG)
Thanks to Álvaro Mendes Deborah Mascalzoni Angus Clarke Maria Barbosa Dr Danya Vears Vera Lúcia Raposo(黎慧華) et al. for making this such a worthwhile meeting! Also to co-authors AnaNHenriques and Ana Pinho

Vai ser uma excelente oportunidade de diálogo entre pares e com a autora 📕 Graça Carapinheiro! CIES Iscte

💚 It’s World CDG Awareness Day!
Today let‘s celebrate the strength, resilience, and courage of the CDG community.
AWARENESS for CDG is key to accelerating therapeutic options!
Know more about this day: bit.ly/3oCcNh4

#WorldCDGDay #StandUnited4CDG #CDGGoGreen

Great Yarmouth: Provisional Figures (2022): a film so beautifully sad I don't want it to be true, but it is youtu.be/9tunkehtSrc via YouTube

Join us at the European Group on Ethics Round Table on democracy in the digital age, 29 March, 9pm CET
research-and-innovation.ec.europa.eu/events/upcomin…

The real criminal is the UK Government Home Secretary, Suella Braverman.

Thrilled to integrate #ADVANCE_project and to lead its co-creation WP with @MHESME. Congratulations Wietse Tol University of Copenhagen Research and team for this successful #HorizonEU application! Looking forward to implement, assess and scale #MentalHealth digital interventions across Europe!

Congratulations for this incredible initiative Hendrik Wagenaar Barbara Prainsack (@[email protected])! So pleased to have joined Helena Machado and others in Portugal and to continue seeing it bearing fruits!

.@_seliem Nikolaus Forgó Lukasz Szoszkiewicz P. Baumer's and my paper on solidarity-based data governance (“data solidarity”) is out in The Lancet Digital Health: thelancet.com/journals/landi….

Let me tell you why we are doing this work 🧵

Happy to share our latest paper on how the restrictions in care following COVID-19 impacted persons with Machado-Joseph disease in the Azores, Portugal. Jorge Sequeiros Ataxia UK
Euro-ataxia EURORDIS-Rare Diseases Europe

Remember there is a small, informal, online information session tomorrow at 4pm BST for individuals and organisations interested in learning more about a new initiative for #opensource tools for #genomic #data #diversity !

Register ⤵️
eventbrite.com/e/the-genomic-…

Looking forward to our great Ethics&GenomeEditing event with Gabriele Werner-Felmayer Med. Uni. Innsbruck, Gardar Árnason Gardar Arnason, & Françoise Baylis Francoise Baylis, PhD

CRISPR'd Humans, genome editing & public engagement? The what, how & why!

Thursday August 4th @ 2pm CET (9am Halifax time)

Our latest paper: Benefits and risks of genomic data sharing for research: the views of #RareDisease patients, carers and professionals Mariana Amorim @susilva_ispup Helena Machado Tiago Maia Ngozi Paschaline Claudia de Freitas #DATAGovproject ISPUP mdpi.com/1732804

So pleased to announce our #DATAGovproject conference on public involvement in health #datagovernance ” ISPUP with wonderful Ngozi Paschaline Dr Danya Vears @KiraAllmann Begonya Nafría World CDG Organization RD-Portugal Hope to see you there! Claudia de Freitas

Our latest paper: people who hold trust in science in high regard ascribe greater value to #PublicInvolvement in decisions about health data governance. #DATAGovproject #PPI #PPI E Ngozi Paschaline @susilva_ispup Claudia de Freitas ISPUP
frontiersin.org/article/10.338…

Our paper on coping mechanisms used during the 1rst #Covid_19 lockdown is out! Free access: authors.elsevier.com/c/1ezZJ7bKB~ZRw
@susilva_ispup @HelenaCFMachad Claudia de Freitas Raquel Lucas

Very pleased to participate in the #RareDiseaseDay celebrations in Portugal and sharing our #DATAGovproject results with such a wonderful public and colleagues!

#CDGResearch

The survey 'Prioritizing Symptoms Impacting Quality of Life for CDG' aims to assess the impact of signs and symptoms of CDG on caregiver activities/tasks.

👉 Help us collect experiences of people caring for CDG patients: bit.ly/3FklG1N