Verity Cockbain (Hartill)

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

🧬 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/news-and-event…

The roles would be suitable for applicants with cancer and/or rare disease interests and support would be given to those wishing to develop a specialist interest. The closing date for applications is the 22nd May, with interviews on the 20th June 2025.

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/joba…. Please get in contact if you would like more information.

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 🧬

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-parl… @GeneticAll_UK @GenePeopleUK @Unique_charity @MPSSocietyUK @AS_UK @BarriersDown @Commonswomequ @CommonsHealth

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

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.

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

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/10.10…

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

@nickywhiffin Wonderful summary, thank you.

I wrote a blog post to break down the science behind RNU4-2 in a way that families could understand: rarediseasegenomics.org/blog/rnu4-2-th… Key lesson: truly lay writing is incredibly important, but also super hard (this took me a while!) If you have any RNU4-2 families, please do share!

Check out the preprint at biorxiv.org/content/10.110… 3/3

Brilliant and important work Saghira. Well done.

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

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…

Delighted to open SARONG trial in Leeds. Helping to answer an important question for our cancer patients.