Alice Burleigh

#genetics #wholeexomesequencing #genepanel #autoinflammation #autoinflammatory #sequencing #geneticdiagnosis #immunodeficiency #medicalgenetics #inflammation

📈 Whole exome seq enabled analysis with a bespoke multipronged workflow, which increased diagnostic yield & enabled new gene:phenotype discoveries in our cohort

🧬 We discuss the benefits and challenges of transitioning our service from targeted gene panel to whole exome seq

⚖️ We compare targeted gene panel and whole exome seq findings from 686 patients tested through our evolving autoinflammation genetic testing service over the last 10 years

Clinical impact of whole exome sequencing: ten years of the Great Ormond Street Hospital Autoinflammation Centre of Excellence experience AbstractObjective. To evaluate the diagnostic yield of whole exome sequencing (WES) vs targeted gene panel (TGP) testing in patients evaluated for autoinfl

Pleased to share our latest paper, a summary of many years of work with the GOSH-ACE team. An absolute pleasure to work alongside @fionapk.bsky.social and combine our PhD efforts into lasting patient benefit.

academic.oup.com/rheumatology...

National Eczema Society’s first-ever grant round awards! - National Eczema Society Exciting announcement: National Eczema Society announce the four winners of their first research grant. Two PhD and two pump-priming projects

Congratulations to Sara Brown who, together with Alice Burleigh, has won a Pump-Priming grant award in the National Eczema Society’s first-ever grant round awards for the first structured study of topical steroid withdrawal in the UK.
edin.ac/3FmhiFp

🚨 EBI has just lunched a new portal to calculate genetic scores from individual-level genetic data.

Check it out 👇. It is very cool!

geneticscores.org

It is linked with the @pgscatalog.bsky.social

This was supported by INTERVENE

Mechanisms of NLRP3 activation and inhibition elucidated by functional analysis of disease-associated variants Nature Immunology - Gain-of-function variants in the gene encoding NLRP3 lead to constitutive inflammasome activation and excessive IL-1β production. In this resource, authors perform...

A large dataset we hope is helpful for patients who may have CAPS, an #autoinflammatory condition associated with genetic variants in NLRP3. Lots of "variants of uncertain significance" now have a specific readout from our in vitro assay which can help with clinical diagnosis.
rdcu.be/d9iRG

Job vacancy: Communications and Social Media Officer Job Title: Communications and Social Media OfficerWorking For: European Animal Research AssociationLocation: London, with international travelSalary: This is a full-time position, salary £31,000–£35,0...

🚨 The European Animal Research Association has a vacancy for a Communications & social media officer position.

Find out more about how to apply below.
#jobhunt #jobopening #jobsearch #job #hiring #recruiting #commsjobs #scicomm #scicommjob #scicommjobs
www.eara.eu/post/job-vac...

Research Assistant (Fixed Term) - Job Opportunities - University of Cambridge Research Assistant (Fixed Term) in the Department of Medicine at the University of Cambridge.

📢Job opportunities!

We're looking for a Research Associate (Fixed Term) to join Dr Gavin Sewell on a research project investigating how #autoinflammatory conditions occur.

Apply by 14 February: https://buff.ly/4aBF8rW

@wellcometrust.bsky.social
@uniofcam.bsky.social

What Happens When Some Cells Are More Dad Than Mom (and Vice Versa)? A new study shows that some of our cells favor genes of one parent or the other and can explain a longstanding mystery of why some people with disease-causing genes experience no symptoms.

What Happens When Some Cells Are More Dad Than Mom (and Vice Versa)?
Latest from us. Published today. News here www.cuimc.columbia.edu/news/what-ha... article here: www.nature.com/articles/s41... @stewart_ojay @BogunovicLab and a huge international team thank you 🙏🏼

A starter pack for anyone interested in #autoinflammation and #autoinflammatory diseases.

Please let me know if you’d like to be added.

go.bsky.app/5M6obrp

Yes, please! Thanks for setting this up

🚨 A PhD project to develop an in vitro human implantation platform is available with me and an interdisciplinary supervisory team at the University of Sheffield.

#blastoids #endometrialAssembloids

#stemCellBiology #embryology #biomaterials #advancedImaging #dataScience

tinyurl.com/ycykmwv4

TANK and AZI2 cooperatively sustain TBK1 activity during different stages of TNF receptor assembly to protect against autoinflammation
www.nature.com/articles/s41...

Promotion of TLR7-MyD88-dependent inflammation and autoimmunity in mice through stem-loop changes in Lnc-Atg16l1 - Nature Communications TLR7 has been shown to promote inflammatory autoimmunity. Here the authors investigate whether changes in RNA structure affect TLR signaling and show that a TLR7 binding lncRNA Lnc-Atg16l1 promotes de...

www.nature.com/articles/s41...

“our findings demonstrate a general mechanism involving how self-RNA structure affect innate sensors-triggering innate response and autoinflammation, and provide a potential strategy for controlling TLR-related autoimmune diseases.”

#TLR7 #lupus #SLE

Academic Journals and News
(Updated Dec 3, 2024)

go.bsky.app/hCfhqn

Autoinflammatory patients with Golgi-trapped CDC42 exhibit intracellular trafficking defects leading to STING hyperactivation and ER stress - Nature Communications Mutations in the RHO GTPase CDC42 have been associated with autoinflammatory diseases. In this study, the authors investigate how two distinct mutations, which trap CDC42 in the Golgi apparatus, are s...

doi.org/10.1038/s414...

I created a simple flow chart to help my lab trainees choose the most appropriate stats test in Prism (*for single-factor comparisons only). Feel free to share with your group if you think it could be helpful first start.

New starter pack for all people interested in Gene Editing & Gene Therapy 🧬✂️ including Tools & Delivery|CRISPR-Cas|Zinc finger nucleases|Viral vectors|Non-viral delivery methods

go.bsky.app/8R4dVez