Aleena M Stolworthy
@aleenamolbio.bsky.social
🔬Ensembl training
🇬🇧 EMBL-EBI Cambridge UK
PhD in molecular biology
ESHG Social Media Chair
🇬🇧 EMBL-EBI Cambridge UK
PhD in molecular biology
ESHG Social Media Chair
Reposted by Aleena M Stolworthy
📄 New publication from Orphanet in JMIR Medical Informatics: “The Orphanet Nomenclature and Classification of Rare Diseases for Improved Patient Recognition and Data Interoperability: Qualitative and Quantitative Analysis”
🔗 medinform.jmir.org/2026/1/e84553
🔗 medinform.jmir.org/2026/1/e84553
August 3, 2026 at 2:41 PM
📄 New publication from Orphanet in JMIR Medical Informatics: “The Orphanet Nomenclature and Classification of Rare Diseases for Improved Patient Recognition and Data Interoperability: Qualitative and Quantitative Analysis”
🔗 medinform.jmir.org/2026/1/e84553
🔗 medinform.jmir.org/2026/1/e84553
Check out some fun photos from #eshg2026 and help us select the winner
🗳️ It's time to vote!
The #eshg2026 Photo Competition finalists have been selected. While there were no entries for Best Virtual Setup, we have some great contenders for:
📸 Best Selfie
😂 Funniest Picture
👉 Vote here: forms.gle/WVNYz4rXChGr...
⏰ Voting closes Monday, 22 June
The #eshg2026 Photo Competition finalists have been selected. While there were no entries for Best Virtual Setup, we have some great contenders for:
📸 Best Selfie
😂 Funniest Picture
👉 Vote here: forms.gle/WVNYz4rXChGr...
⏰ Voting closes Monday, 22 June
June 18, 2026 at 9:11 PM
Check out some fun photos from #eshg2026 and help us select the winner
Reposted by Aleena M Stolworthy
Make sure to join this year’s ELPAG Award Lecture by Anne Cambon-Thomsen at 13:30 CEST in Hall C followed by ESHG Awardee Tuuli Lappalainen and the Mendel Lecture by Guillaume Canaud #eshg2026
June 16, 2026 at 11:15 AM
Make sure to join this year’s ELPAG Award Lecture by Anne Cambon-Thomsen at 13:30 CEST in Hall C followed by ESHG Awardee Tuuli Lappalainen and the Mendel Lecture by Guillaume Canaud #eshg2026
Among patients with hereditary angioedema, a single iv infusion of lonvo-z resulted in a significantly lower rate of hereditary angioedema attacks than placebo.
#eshg2026
www.nejm.org/doi/full/10....
#eshg2026
www.nejm.org/doi/full/10....
Lonvoguran Ziclumeran — In Vivo CRISPR Gene Editing in Hereditary Angioedema | NEJM
Hereditary angioedema is a rare and potentially life-threatening genetic condition
characterized by recurrent and debilitating swelling attacks. Lonvoguran ziclumeran
(lonvo-z) — an investigational...
www.nejm.org
June 16, 2026 at 9:50 AM
Among patients with hereditary angioedema, a single iv infusion of lonvo-z resulted in a significantly lower rate of hereditary angioedema attacks than placebo.
#eshg2026
www.nejm.org/doi/full/10....
#eshg2026
www.nejm.org/doi/full/10....
Reposted by Aleena M Stolworthy
Rebecca Ahrens-Nicklas (CHOP)
💊 First-in-human personalised base editing for CPS1 deficiency
Bespoke adenine base editor delivered by liver-targeted LNPs designed, manufactured, tested & given under expanded access within months of birth.
pubmed.ncbi.nlm.nih.gov/40373211
#ESHG2026
💊 First-in-human personalised base editing for CPS1 deficiency
Bespoke adenine base editor delivered by liver-targeted LNPs designed, manufactured, tested & given under expanded access within months of birth.
pubmed.ncbi.nlm.nih.gov/40373211
#ESHG2026
June 16, 2026 at 7:50 AM
Rebecca Ahrens-Nicklas (CHOP)
💊 First-in-human personalised base editing for CPS1 deficiency
Bespoke adenine base editor delivered by liver-targeted LNPs designed, manufactured, tested & given under expanded access within months of birth.
pubmed.ncbi.nlm.nih.gov/40373211
#ESHG2026
💊 First-in-human personalised base editing for CPS1 deficiency
Bespoke adenine base editor delivered by liver-targeted LNPs designed, manufactured, tested & given under expanded access within months of birth.
pubmed.ncbi.nlm.nih.gov/40373211
#ESHG2026
Reposted by Aleena M Stolworthy
🎉 What a fantastic evening at the #eshg2026 Networking Event at World of Volvo!
A special highlight was the The Telomerays band formed by geneticists, who once again rocked the stage and kept the dance floor buzzing throughout the evening! 🎸🎤
📸 Mikael Göthage/Bildbyrån
A special highlight was the The Telomerays band formed by geneticists, who once again rocked the stage and kept the dance floor buzzing throughout the evening! 🎸🎤
📸 Mikael Göthage/Bildbyrån
June 16, 2026 at 8:05 AM
🎉 What a fantastic evening at the #eshg2026 Networking Event at World of Volvo!
A special highlight was the The Telomerays band formed by geneticists, who once again rocked the stage and kept the dance floor buzzing throughout the evening! 🎸🎤
📸 Mikael Göthage/Bildbyrån
A special highlight was the The Telomerays band formed by geneticists, who once again rocked the stage and kept the dance floor buzzing throughout the evening! 🎸🎤
📸 Mikael Göthage/Bildbyrån
Reposted by Aleena M Stolworthy
Making ‘mini-brains’ from the stem cells of patients with childhood parkinsonism have enabled researchers to find not only the mechanism of the disease, but also that a cheap, widely available form of vitamin B can slow its progression. Presented at #eshg2026 today: www.thetimes.com/uk/science/a...
Scientists create ‘mini-brains’ to help children with rare disorder
A form of vitamin B3 known as nicotinamide mononucleotide was found to slow disease progression in patients with a rare mutation in the DHDDS gene
www.thetimes.com
June 15, 2026 at 9:44 AM
Making ‘mini-brains’ from the stem cells of patients with childhood parkinsonism have enabled researchers to find not only the mechanism of the disease, but also that a cheap, widely available form of vitamin B can slow its progression. Presented at #eshg2026 today: www.thetimes.com/uk/science/a...
Reposted by Aleena M Stolworthy
📢 Join us now at the #eshg2026 Social Media Workshop! 📱✨
🎤 Interactive discussions, practical tips, and real-world strategies for using social media in genetics, genomics, education, and professional networking.
@jamesfasham.bsky.social @aleenamolbio.bsky.social @tomwrightuom.bsky.social
🎤 Interactive discussions, practical tips, and real-world strategies for using social media in genetics, genomics, education, and professional networking.
@jamesfasham.bsky.social @aleenamolbio.bsky.social @tomwrightuom.bsky.social
June 15, 2026 at 12:08 PM
📢 Join us now at the #eshg2026 Social Media Workshop! 📱✨
🎤 Interactive discussions, practical tips, and real-world strategies for using social media in genetics, genomics, education, and professional networking.
@jamesfasham.bsky.social @aleenamolbio.bsky.social @tomwrightuom.bsky.social
🎤 Interactive discussions, practical tips, and real-world strategies for using social media in genetics, genomics, education, and professional networking.
@jamesfasham.bsky.social @aleenamolbio.bsky.social @tomwrightuom.bsky.social
Best thing about the UK: Our spring ( I know! But look at this video of Cambridge) @trincolllibcam.bsky.social
June 15, 2026 at 8:09 AM
Best thing about the UK: Our spring ( I know! But look at this video of Cambridge) @trincolllibcam.bsky.social
Reposted by Aleena M Stolworthy
🧬 Practical Info for tonight’s ESHG-Young Networking Event! 👇
🚋 Check the Directions in our linktree! & don't forget you ESHG badge! You will need it to get in.
#eshg2026 @eshg.bsky.social
🚋 Check the Directions in our linktree! & don't forget you ESHG badge! You will need it to get in.
#eshg2026 @eshg.bsky.social
June 14, 2026 at 11:26 AM
🧬 Practical Info for tonight’s ESHG-Young Networking Event! 👇
🚋 Check the Directions in our linktree! & don't forget you ESHG badge! You will need it to get in.
#eshg2026 @eshg.bsky.social
🚋 Check the Directions in our linktree! & don't forget you ESHG badge! You will need it to get in.
#eshg2026 @eshg.bsky.social
Reposted by Aleena M Stolworthy
🧬 #eshg2026 interesting session on ethics & equity in genomics publishing:
👥 Involving citizens in publishing genomics research
✍️ Editorial experiences of negative author behaviours
🌏 Inclusivity & indigenous populations in genomics publishing
🔒 Privacy concerns
⚕️Reproductive health equity
👥 Involving citizens in publishing genomics research
✍️ Editorial experiences of negative author behaviours
🌏 Inclusivity & indigenous populations in genomics publishing
🔒 Privacy concerns
⚕️Reproductive health equity
June 14, 2026 at 11:31 AM
🧬 #eshg2026 interesting session on ethics & equity in genomics publishing:
👥 Involving citizens in publishing genomics research
✍️ Editorial experiences of negative author behaviours
🌏 Inclusivity & indigenous populations in genomics publishing
🔒 Privacy concerns
⚕️Reproductive health equity
👥 Involving citizens in publishing genomics research
✍️ Editorial experiences of negative author behaviours
🌏 Inclusivity & indigenous populations in genomics publishing
🔒 Privacy concerns
⚕️Reproductive health equity
Reposted by Aleena M Stolworthy
June 14, 2026 at 11:01 AM
Reposted by Aleena M Stolworthy
Prof Pat #eshg2026 unofficial social media #Postman recommendation:
🍪🇸🇪 Choklad Drömmar and a cuppa
☕️🏴 English breakfast tea
#dessertsofeshg
#drinksofeshg
🍪🇸🇪 Choklad Drömmar and a cuppa
☕️🏴 English breakfast tea
#dessertsofeshg
#drinksofeshg
June 14, 2026 at 10:50 AM
Prof Pat #eshg2026 unofficial social media #Postman recommendation:
🍪🇸🇪 Choklad Drömmar and a cuppa
☕️🏴 English breakfast tea
#dessertsofeshg
#drinksofeshg
🍪🇸🇪 Choklad Drömmar and a cuppa
☕️🏴 English breakfast tea
#dessertsofeshg
#drinksofeshg
Reposted by Aleena M Stolworthy
Welcome to the second day of the #eshg2026 #hybridconference! Sessions start at 8:30 CEST. A full day of interesting symposia, educational sessions, interactive workshops and varied presentations from submitted abstracts is ahead of you!
June 14, 2026 at 6:30 AM
Welcome to the second day of the #eshg2026 #hybridconference! Sessions start at 8:30 CEST. A full day of interesting symposia, educational sessions, interactive workshops and varied presentations from submitted abstracts is ahead of you!
Reposted by Aleena M Stolworthy
🏆 Win tickets for #eshg2027 in Rotterdam! The #eshg2026 Photo Competition is live! Show the community how you are experiencing the conference this year.
Check the details below, start sharing, and give your favorites some love to help them get noticed! 😉
Check the details below, start sharing, and give your favorites some love to help them get noticed! 😉
June 13, 2026 at 2:22 PM
Looking forward to a rollercoaster selfie with the ESHG badge 😉
#eshg2026
#eshg2026
June 13, 2026 at 1:41 PM
Looking forward to a rollercoaster selfie with the ESHG badge 😉
#eshg2026
#eshg2026
Link to the #eshg2026 bingo
mfbc.us/m/rfygncm
I am almost there, do coffees from @thermofishersci.bsky.social booth count?
mfbc.us/m/rfygncm
I am almost there, do coffees from @thermofishersci.bsky.social booth count?
June 13, 2026 at 12:58 PM
Link to the #eshg2026 bingo
mfbc.us/m/rfygncm
I am almost there, do coffees from @thermofishersci.bsky.social booth count?
mfbc.us/m/rfygncm
I am almost there, do coffees from @thermofishersci.bsky.social booth count?
Reposted by Aleena M Stolworthy
👋🧬 Welcoming address #eshg2026 @ahoischen.bsky.social @eshg.bsky.social
3,171 abstracts from 95 countries:
🇬🇧🇮🇹🇹🇷🇩🇪🇪🇸 et al
👥6,048 participants:
🙋♂️🙋♀️4,812 in person
💻 🖥️1,248 online
⛅️ Fascinating word cloud from all presentation titles
🇸🇪 It’s good to be in Gothenburg!
#RareDisease
#Genomics
3,171 abstracts from 95 countries:
🇬🇧🇮🇹🇹🇷🇩🇪🇪🇸 et al
👥6,048 participants:
🙋♂️🙋♀️4,812 in person
💻 🖥️1,248 online
⛅️ Fascinating word cloud from all presentation titles
🇸🇪 It’s good to be in Gothenburg!
#RareDisease
#Genomics
June 13, 2026 at 12:47 PM
👋🧬 Welcoming address #eshg2026 @ahoischen.bsky.social @eshg.bsky.social
3,171 abstracts from 95 countries:
🇬🇧🇮🇹🇹🇷🇩🇪🇪🇸 et al
👥6,048 participants:
🙋♂️🙋♀️4,812 in person
💻 🖥️1,248 online
⛅️ Fascinating word cloud from all presentation titles
🇸🇪 It’s good to be in Gothenburg!
#RareDisease
#Genomics
3,171 abstracts from 95 countries:
🇬🇧🇮🇹🇹🇷🇩🇪🇪🇸 et al
👥6,048 participants:
🙋♂️🙋♀️4,812 in person
💻 🖥️1,248 online
⛅️ Fascinating word cloud from all presentation titles
🇸🇪 It’s good to be in Gothenburg!
#RareDisease
#Genomics
Reposted by Aleena M Stolworthy
Attend the Leena Peltonen Award lecture now at #eshg2026 with Nicola Whiffin from Oxford University and learn About her recent discovieries in rare diseases and the broader inclusion of non-coding variants in clinical genetic testing that led to the Leena Peltonen Award. Congratulations!
June 13, 2026 at 12:10 PM
Attend the Leena Peltonen Award lecture now at #eshg2026 with Nicola Whiffin from Oxford University and learn About her recent discovieries in rare diseases and the broader inclusion of non-coding variants in clinical genetic testing that led to the Leena Peltonen Award. Congratulations!
Fantastic welcome address from @ehrencrona.org Swedish Society of Medical Genetics and Genomics (SFMG): Gothenburg, genetics and a joke in 5 mins!
#eshg2026
#eshg2026
June 13, 2026 at 11:56 AM
Fantastic welcome address from @ehrencrona.org Swedish Society of Medical Genetics and Genomics (SFMG): Gothenburg, genetics and a joke in 5 mins!
#eshg2026
#eshg2026
Excited to be presenting two interactive sessions at #eshg2026 in Gothenburg!
14 June, 14:00 CEST
I07: UCSC & @ensembl.org Genome Browsers (F4/5)
15 June, 14:00 CEST
I16: Social Media in Genetics (Sequencing Square)
If you're at the meeting, come and say hello ☺️
#Genomics #HumanGenetics #SciComm
14 June, 14:00 CEST
I07: UCSC & @ensembl.org Genome Browsers (F4/5)
15 June, 14:00 CEST
I16: Social Media in Genetics (Sequencing Square)
If you're at the meeting, come and say hello ☺️
#Genomics #HumanGenetics #SciComm
June 13, 2026 at 11:25 AM
Excited to be presenting two interactive sessions at #eshg2026 in Gothenburg!
14 June, 14:00 CEST
I07: UCSC & @ensembl.org Genome Browsers (F4/5)
15 June, 14:00 CEST
I16: Social Media in Genetics (Sequencing Square)
If you're at the meeting, come and say hello ☺️
#Genomics #HumanGenetics #SciComm
14 June, 14:00 CEST
I07: UCSC & @ensembl.org Genome Browsers (F4/5)
15 June, 14:00 CEST
I16: Social Media in Genetics (Sequencing Square)
If you're at the meeting, come and say hello ☺️
#Genomics #HumanGenetics #SciComm
Reposted by Aleena M Stolworthy
Join the ESHG Podcast Live Event at 12:15 CEST in room F4+5, level2!
A discussion with experts about ‘Inclusivity by design: The future of genetics education, research, and clinical practice’. Join us for this special episode and check out previous episodes: www.eshg.org/geneticsounds
A discussion with experts about ‘Inclusivity by design: The future of genetics education, research, and clinical practice’. Join us for this special episode and check out previous episodes: www.eshg.org/geneticsounds
June 13, 2026 at 10:00 AM
Join the ESHG Podcast Live Event at 12:15 CEST in room F4+5, level2!
A discussion with experts about ‘Inclusivity by design: The future of genetics education, research, and clinical practice’. Join us for this special episode and check out previous episodes: www.eshg.org/geneticsounds
A discussion with experts about ‘Inclusivity by design: The future of genetics education, research, and clinical practice’. Join us for this special episode and check out previous episodes: www.eshg.org/geneticsounds
Can’t make every session?
Registered #eshg2026 participants can still access all posters daily via the e-poster terminals and online conference platform through Nov. 30, 2026.
Registered #eshg2026 participants can still access all posters daily via the e-poster terminals and online conference platform through Nov. 30, 2026.
📌 Poster update for #ESHG2026
This year, posters will be physically displayed for *one day only*.
👍 Easier to find authors for face-to-face discussions.
📅 Plan ahead so you don't miss key posters for you.
All posters will remain available online throughout the meeting
This year, posters will be physically displayed for *one day only*.
👍 Easier to find authors for face-to-face discussions.
📅 Plan ahead so you don't miss key posters for you.
All posters will remain available online throughout the meeting
June 13, 2026 at 8:39 AM
Can’t make every session?
Registered #eshg2026 participants can still access all posters daily via the e-poster terminals and online conference platform through Nov. 30, 2026.
Registered #eshg2026 participants can still access all posters daily via the e-poster terminals and online conference platform through Nov. 30, 2026.