Gemma Chandratillake(@GemmaChand) 's Twitter Profileg
Gemma Chandratillake

@GemmaChand

Genetics, genomics, genetic counsel(l)ing, generally waxing helical
Work for @east_genomics and @Cambridge_Uni
Vice-Chair @BritSocGenMed,Trustee @camraredisease

ID:1219515175

calendar_today25-02-2013 18:28:34

2,2K Tweets

1,3K Followers

742 Following

Genomics Education(@genomicsedu) 's Twitter Profile Photo

Are you a working in the ? Ever found yourself in need of a quick knowledge boost before or during a patient appointment? Our new collection has everything you need in one handy resource. Find out more: buff.ly/3vFNBu9

Are you a #cardiologist working in the #NHS? Ever found yourself in need of a quick #genomics knowledge boost before or during a patient appointment? Our new #cardiology #GeNotes collection has everything you need in one handy resource. Find out more: buff.ly/3vFNBu9
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Sarah Hunter(@sezzy_boy) 's Twitter Profile Photo

linkedin.com/posts/sarah-hu…

NHS East Genomics Cambridge University Hospitals NHS - please take a look. You have a chance to be working in clinical service in the NHS to impact on patients with rare disease and cancer

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NHS East Genomics(@East_Genomics) 's Twitter Profile Photo

We have are looking to fill two exciting roles within our genomics lab Cambridge University Hospitals NHS to support the expansion of the rare disease genomic service.
Clinical Scientist Rare Disease, Band 7 and
Principal Scientist, Band 8a
bit.ly/4auP70Q

We have are looking to fill two exciting roles within our genomics lab @CUH_NHS to support the expansion of the rare disease genomic service. Clinical Scientist Rare Disease, Band 7 and Principal Scientist, Band 8a bit.ly/4auP70Q #genomics #careers #raredisease
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NHS East Genomics(@East_Genomics) 's Twitter Profile Photo

An exciting opportunity has arisen within our cancer team Cambridge University Hospitals NHS for an enthusiastic Clinical Scientist, Biomedical Scientist or Research Scientist to perform a clinically transformative project funded by Sarcoma UK.
More 👉bit.ly/3W06YIR

An exciting opportunity has arisen within our cancer team @CUH_NHS for an enthusiastic Clinical Scientist, Biomedical Scientist or Research Scientist to perform a clinically transformative project funded by @Sarcoma_UK. More 👉bit.ly/3W06YIR #Genomics #Cancer #Research
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SWAN UK (syndromes without a name)(@SWAN_UK) 's Twitter Profile Photo

📣 Help us reach more families this April by sharing our reel! 📣 SWAN UK is the only dedicated community for UK based families of children aged 0-25 years old who are searching for a genetic diagnosis.

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Kaitlin Samocha(@ksamocha) 's Twitter Profile Photo

Recently out on : our updated approach to identify regional variability in missense mutation intolerance (“constraint”) in protein-coding genes using the gnomAD database (Genome Aggregation Database). 1/n

biorxiv.org/content/10.110…

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Gemma Chandratillake(@GemmaChand) 's Twitter Profile Photo

Good news for Biomedical Scientists in labs and early career Biomedical Scientists looking to enter the exciting field! ACGS

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Daniel MacArthur(@dgmacarthur) 's Twitter Profile Photo

This is so cool - a remarkably frequent mutation in a non-protein-coding RNA gene, which causes around one in every 200 currently undiagnosed cases of developmental delay around the world (including 8 Australian families so far!). A couple of thoughts (1/3)

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Nicky Whiffin(@nickywhiffin) 's Twitter Profile Photo

Would you believe me if I told you that a single variant in a non-coding RNA explains ~0.5% of all undiagnosed individuals with neurodevelopmental disorders (NDD) in Genomics England ???

I didn’t initially either, but here is the story of RNU4-2 🧵1/9

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Yuyang Chen(@quenchentin) 's Twitter Profile Photo

Thrilled to share our latest discovery on a spliceosomal snRNA gene causing neurodevelopmental disorders: medrxiv.org/content/10.110… Thank you to everyone who contributed; it’s been a phenomenal effort to collaborate with clinicians and researchers for what would help many families!

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Jamie Ellingford(@j_ellingford) 's Twitter Profile Photo

⏪Reanalysing historical arrayCGH data identifies new diagnoses⏪

Copy number losses overlap with disease genes that have been discovered since the time of first analysis

George Burghel - جورج برغل Siddharth Banka Jake ⓥ Miller Jonathan Edgerley Chris Watt Ronnie Wright The North West Genomic Laboratory Hub

pubmed.ncbi.nlm.nih.gov/38604752/

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Cambridge Rare Disease Network (CamRARE)(@camraredisease) 's Twitter Profile Photo

And it's off!
Our brand new ‘This is Me’ is winging it's way around the world 🌍 to the first 571 people who signed up!
Giving our RARE community the tools to communicate their their way.
Have you got yours? 🦓

And it's off! Our brand new ‘This is Me’ #RarePatientPassport is winging it's way around the world 🌍 to the first 571 people who signed up! Giving our RARE community the tools to communicate their #RareCondition their way. Have you got yours? 🦓 #RareDisease
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NHS East Genomics(@East_Genomics) 's Twitter Profile Photo

Bioinformaticians in our labs are responsible for giving meaning to genomic data. This can help make a diagnosis for a patient with a rare condition or to identify the best treatment for a patient with cancer. bit.ly/43cVYcK
NHS Healthcare Science

Bioinformaticians in our labs are responsible for giving meaning to genomic data. This can help make a diagnosis for a patient with a rare condition or to identify the best treatment for a patient with cancer. bit.ly/43cVYcK #HealthcareScienceWeek2024 @WeHCScientists
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NHS East Genomics(@East_Genomics) 's Twitter Profile Photo

Meet Lewis Darnell who is a senior clinical scientist for rare disease in our Nottingham Laboratory @Nottmhospitals.

You can read about his role and career path here 👉 bit.ly/3IxuTYq

NHS Healthcare Science

Meet Lewis Darnell who is a senior clinical scientist for rare disease in our Nottingham Laboratory @Nottmhospitals. You can read about his role and career path here 👉 bit.ly/3IxuTYq #HealthcareScienceWeek2024 @WeHCScientists #NHS #Time #genomics
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NHS East Genomics(@East_Genomics) 's Twitter Profile Photo

Building communities of practice...

28 March Paediatrics Forum: How surprise results from genomic testing have influenced my practice (Community Paediatrician)

14 June Prenatal Forum: Prenatal genomic testing opportunities: Lessons from case studies

ℹ️ eastgenomics.nhs.uk/about-us/news-…

Building communities of practice... 28 March Paediatrics Forum: How surprise results from genomic testing have influenced my practice (Community Paediatrician) 14 June Prenatal Forum: Prenatal genomic testing opportunities: Lessons from case studies ℹ️ eastgenomics.nhs.uk/about-us/news-…
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