Sarah Flanagan
@sarah-flanagan.bsky.social
Professor of Genomic Medicine, Wellcome Senior Research Fellow @UniofExeter. Genetics of hyperinsulinism, monogenic diabetes & autoimmunity 🧬#ExeterDiabetes
What a great #ESPE #ESE meeting in Copenhagen. Pleased to have been given 2 opportunities to showcase the team’s work and also managed to squeeze in some sightseeing.
The highlight was though talking to some of the wonderful clinicians who have referred patients for #HI genetic testing in Exeter.
The highlight was though talking to some of the wonderful clinicians who have referred patients for #HI genetic testing in Exeter.
May 13, 2025 at 6:51 PM
Great to see a parliamentary debate focussing on some of the many challenges faced by families living with #congenitalhyperinsulinism
Really pleased that the great work of the Exeter NHS Genomics lab and research team were also acknowledged 🧬
parliamentlive.tv/event/index/...
Really pleased that the great work of the Exeter NHS Genomics lab and research team were also acknowledged 🧬
parliamentlive.tv/event/index/...
Parliamentlive.tv
Westminster Hall
parliamentlive.tv
April 15, 2025 at 8:25 AM
Great to see a parliamentary debate focussing on some of the many challenges faced by families living with #congenitalhyperinsulinism
Really pleased that the great work of the Exeter NHS Genomics lab and research team were also acknowledged 🧬
parliamentlive.tv/event/index/...
Really pleased that the great work of the Exeter NHS Genomics lab and research team were also acknowledged 🧬
parliamentlive.tv/event/index/...
Reposted by Sarah Flanagan
Characterization of Congenital Hyperinsulinism in Argentina: Clinical Features, Genetic Findings, and Treatment Outcomes https://www.medrxiv.org/content/10.1101/2025.03.14.25323434v1
March 18, 2025 at 5:57 AM
Characterization of Congenital Hyperinsulinism in Argentina: Clinical Features, Genetic Findings, and Treatment Outcomes https://www.medrxiv.org/content/10.1101/2025.03.14.25323434v1
Reposted by Sarah Flanagan
Nature research paper: Rare disease gene association discovery in the 100,000 Genomes Project
https://go.nature.com/41jAqdQ
https://go.nature.com/41jAqdQ
Rare disease gene association discovery in the 100,000 Genomes Project - Nature
A rare variant burden analytical framework for Mendelian diseases was developed and applied to data from the 100,000 Genomes Project, identifying 69 probable new disease–gene associations.
go.nature.com
February 26, 2025 at 6:36 PM
Nature research paper: Rare disease gene association discovery in the 100,000 Genomes Project
https://go.nature.com/41jAqdQ
https://go.nature.com/41jAqdQ
Reposted by Sarah Flanagan
New Research: Large copy number variants are an important cause of congenital hyperinsulinism that should be screened for during routine testing
www.frontiersin.org/journals/end...?
www.frontiersin.org/journals/end...?
Frontiers | Large copy number variants are an important cause of congenital hyperinsulinism that should be screened for during routine testing
www.frontiersin.org
February 21, 2025 at 4:31 AM
New Research: Large copy number variants are an important cause of congenital hyperinsulinism that should be screened for during routine testing
www.frontiersin.org/journals/end...?
www.frontiersin.org/journals/end...?