Clinical geneticist, PhD. Interested in rare diseases, congenital heart disease.
Leeds, England
Joined December 2009
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Verity Cockbain (Hartill) retweeted
New review on Smith-Lemli-Opitz syndrome highlights emerging therapies: ✅ Cholic acid to boost cholesterol absorption ✅ Antioxidants to reduce toxic oxysterols ✅ Statins under study to lower 7-DHC. bit.ly/4kGVrYF
Verity Cockbain (Hartill) retweeted
🧬 The team from Manchester BRC, @MFTnhs and @FBMH_UoM collaborated with scientists worldwide to analyse the genetic data of thousands of individuals.
They studied parts of our genes which have previously been dismissed as ‘dark matter’ or ‘junk DNA’.
🔗 manchesterbrc.nihr.ac.uk/new…
Our team at Leeds Clinical Genomics are looking to recruit 2 Consultant Geneticists. We are a friendly and supportive team, working in beautiful Yorkshire. jobs.nhs.uk/candidate/jobadv…. Please get in contact if you would like more information.
Verity Cockbain (Hartill) retweeted
Today is Rare Disease Day!
Our team are embracing the #shareyourcolours campaign by @rarediseaseday to help raise awareness for the 300 million people worldwide living with a rare disease, their families and carers #RareDiseaseDay #RareDiseaseDay2025 #ShowYourStripes 🧬
Verity Cockbain (Hartill) retweeted
Ahead of the second reading of the Bill proposed by @RicHolden to prohibit cousin marriages, we have released a parliamentary briefing 👉 bsgm.org.uk/news/bsgm-parlia…
@GeneticAll_UK @GenePeopleUK @Unique_charity @MPSSocietyUK @AS_UK @BarriersDown @Commonswomequ @CommonsHealth
Our new research article is out in @ejhg_journal!
rdcu.be/d1rI4.
Inside we explore the congenital heart disease cohorts of the 100,000 genomes project.
@ColinAJohnson2 @SunaynaBest @stephbaross @DrJennyLord @KeavneyLab @GavinRyan27 @JacquelineEaso2 @kathrynhentges
Then, we used the same pipeline to identify variants in non-omim morbid genes from within the cohort to create a candidate CHD gene dataset. This data can be prioritised on factors such as known gene function, expression in cardiac tissues and mutation characteristics.
We hope that this will be valuable in identifying new CHD disease genes. Many thanks to our co-authors, @GenomicsEngland and the families involved. #congenitalheartdisease #genomicsengland #genomics #raredisease @LeedsGenomics @LeedsClinGen
Verity Cockbain (Hartill) retweeted
Excited to report our study in @NEJM on the discovery of deletions in a long noncoding RNA gene 🧬 (𝘊𝘏𝘈𝘚𝘌𝘙𝘙) as the cause of a newly defined human neurodevelopmental disorder 🧠. 🧵1/10 nejm.org/doi/full/10.1056/NE…
Verity Cockbain (Hartill) retweeted
As the demand for rapid genomic testing grows, can the workforce keep up? McCorkell et al. develop a wide-scale #genomics education program to create #GenomicChampions bit.ly/4eqOhUZ #medEd @ZornitzaS @AusGenomics @ClaraGaff
ALT Screenshot of Figure 1: The Acute Care Genomics education and evaluation program design. The education program included 3 online modules, a workshop, then a final follow-up module 3 months later. Data were collected at registration, before starting the online modules, during the online modules, during the workshop, at the completion of the workshop and at 3-month follow-up. Learner completion for each section of the program is shown. #Number that completed the entire module. ˆNumber of unique logins for the online workshop, NB. there may have been more attendees as some logins had more than one person. ∗Genetic counselors, nurses, and allied health practitioners were given the option of completing a simple quiz, clinical cases, or both. ACG, Acute Care Genomics; LMS, Learning Management System.
Verity Cockbain (Hartill) retweeted
Check out the preprint at biorxiv.org/content/10.1101/… 3/3
Brilliant and important work Saghira. Well done.
Well done @GenomicsEngland @BarriersDown @KerryLeeson and Dr Trupti Patel for excellent work on this important issue. It was a great opportunity to contribute to this and share our work re enhancing Equity in Genomic Studies at @LeedsClinGen @LeedsHospitals @LeedsMedHealth
Verity Cockbain (Hartill) retweeted
Wow!A full house to hear @jamesapoulter,UKRI Future Leaders Fellow & University Academic Fellow in Molecular Neuroscience,talk about recent work to identify novel disease genes associated with rare neurodevelopmental disorders. Publications can be found: shorturl.at/abjU5 – at Manchester, England
Verity Cockbain (Hartill) retweeted
Leeds UGI robotic programme going from strength to strength. Really enjoyed helping two fab colleagues today, and two patients benefiting from complex hiatal surgery performed robotically.
Great thread…
1/ What do you think about sequencing the entire genetic code (#genome) of babies at birth?
👶 🧬 🔍
A thread based on our @bmj_latest paper
bmj.com/content/384/bmj-2023…
Verity Cockbain (Hartill) retweeted
Delighted to open SARONG trial in Leeds. Helping to answer an important question for our cancer patients.
Verity Cockbain (Hartill) retweeted
OUT TODAY - THE ROAD TO GENOME PODCAST
The first episode is alive & kicking on all podcast platforms, or can be listened to on our website.
Catch the first episode with patient Jack who chats about his genetic heart condition
Listen at: ney-genomics.org.uk/about-ge…
Episode 1 of #TheRoadToGenome podcast is out on Mon 11 Mar.
Hear Jack's personal account of the life challenges he's faced after discovering he had a genetic heart condition as a teenager
Available on all podcast platforms or listen on our website: ney-genomics.org.uk/podcast