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RGC million exomes browser is here (~20% non-Europeans). Don't miss this amazing resource to query variants and genes of your interest. It'll greatly complement the gnomAD v4 browser. Bookmark it today and spread the word.

The MS Society UK have produced a long read blog about MS and pregnancy - really delighted to have been able to contribute and help shape this. Hopefully it will be helpful to some mssociety.org.uk/care-and-suppo…

Genes & Health participant is 10th person in the world enrolled in groundbreaking gene-editing clinical trial heart1 Verve Therapeutics A single dose, once and done treatment designed to reduce high-cholesterol caused by familial hypercholesterolaemia (FH)...(1/3) qmul.ac.uk/media/news/202…

First up, replication is broadly about doing the same conceptual experiment again to see if you get the same result (and is contrast of reproducibility - if the same person does the same experiment in the same setting do they get the same result?)

Reassuring data from MSBase showing that ethnicity does not seem to influence the onset of Secondary Progressive MS (not the main focus of the paper but super interesting) - academic.oup.com/brain/article/…

Interested in what Genes & Health does and our impact? Subscribe to our quarterly newsletter and join our community for updates, insights and recipes! 📢🫂📰 See our latest edition here: mailchi.mp/811702a2086a/i…

🟡 Recruiting now– ADAMS People with MS to take part in a study investigating how genes cause multiple sclerosis in people from different ethnicities. To take part, you should be of non-European heritage, eg African, Caribbean or South Asian. Visit researchforthefuture.org/studies/adams

👀Gene‐environment interactions for #Parkinsons Roberta & Alexa Reynoso, Karl Heilbron Ben Jacobs & 23andMe Research & Therapeutics We used the huge 23andme dataset to find proof of concept for GxE interactions. Cure Parkinson's Parkinson's UK michaeljfox.org onlinelibrary.wiley.com/doi/10.1002/an…

github.com/cxli233/Friend…

Great news! You can now browse the #500KGenomes summary statistics for all UK Biobank participants free of charge using our Allele Frequency Browser. The browser was launched on behalf of the Whole Genome Sequencing consortium. 🧬afb.ukbiobank.ac.uk

Come and help us celebrate the new(ish!) Centre for Preventive Neurology Centre for Preventive Neurology at our launch symposium on 4th March covering early detection and biomarkers, interventions, and addressing inequalities will be covered. Register here eventbrite.co.uk/e/centre-for-p…

🟡 Recruiting now– ADAMS People with MS to take part in a study investigating how genes cause multiple sclerosis in people from different ethnicities. To take part, you should be of non-European heritage, eg African, Caribbean or South Asian. Visit researchforthefuture.org/studies/adams

Release of ~600 binary trait GWAS, TOPMED-r3, British Bangladeshi and Pakistani volunteers. Open access here gs://genesandhealth_publicdatasets/results_GWAS_public/2024_02_version008phenotypes_binarytraits_51kGSA_TOPMED-r3/

There are often lots of questions surrounding genetics and MS, such as 'is MS hereditary?' and 'how are genes involved in MS?' We have created a short factsheet which explains what genes are, and the role they play to answer these questions. mssoc.uk/49XbonB

Fantastic work by Jamie Badenoch and the team Centre for Preventive Neurology Neuroanatomical and prognostic associations of depression in Parkinson’s disease jnnp.bmj.com/content/early/…

New research shows the number of people estimated to be living with multiple sclerosis (MS) in the UK has increased to more than 150,000. The previous figure, based on data from 2019, was more than 130,000. Read more here: mssoc.uk/3K03kI3

With ~1M exomes sequenced, we published the largest set of human protein-coding variation to date today in nature. RGC-ME data contains genetic variation from individuals of African, American, South and East Asian and Middle Eastern ancestry.

Today, RGC has published an important paper in nature today, describing an analysis of close to a million human exomes (n=983,578) as a single variant call set (!). This is the largest and most diverse rare variant database created so far. This impressive feat is accomplished by

Incredibly proud of Emily Tregaskis-Daniels who looks after the ADAMS study day to day and somehow finds the time to do cutting-edge research on pregnancy and MS as well 👏