. Lia Crotti discussing #mexiletine as a therapy for #LQT2 at #HRS2024 Heart Rhythm Society

New GWAS on Brugada Syndrome in Japanese population. Consistent genetic effect across populations. Great collaboration !
Brugada syndrome in Japan and Europe : a genome-wide association study reveals shared genetic architecture and new r… pubmed.ncbi.nlm.nih.gov/38747976/

De KNAW heeft 17 nieuwe leden gekozen! Zij zijn benoemd op grond van hun wetenschappelijke prestaties. Van harte gefeliciteerd! Lees meer over onze nieuwe leden: knaw.nl/nieuws/knaw-ki…

Will you be attending Cardiac EPS's Annual Meeting next week in Boston, MA? We will be kicking off the Heart Rhythm Society's opening day of #HRS24 with an outstanding lineup of expert speakers! More info here: cardiaceps.org

Surely it's time to expand HCM genetic testing beyond sarcomeric genes?

JPH2 - 3% of cases in 🇫🇮 #5 gene (at least)
FHOD3 - 6% of cases in 🇸🇮 🇧🇦 #3 gene
CSRP3 / TRIM63 - 4.5% of cases in 🇪🇬 #5/6 genes
ALPK3 - 1.5% of cases in 🇪🇺 but maybe ~5-6% in 🇮🇳/🇵🇰?
etc.

👉In September 2️⃣0️⃣2️⃣5️⃣…we are back!!!! A Coruña 🇪🇸 👉Save the date!!! 😉William J McKenna Ahmad Masri iacopo olivotto Connie Bezzina Juan Pablo Kaski Elena Arbelo Sanjay Sharma Eduard Quintana Juan Pablo Ochoa Pablo Garcia-Pavia Sección Cardiopatías Familiares y Genética CV SEC Ruxandra Jurcut @MTome Tomás Ripoll Vera MD,PhD,FESC🇪🇸 Sección Cardiopatías Familiares y Genética CV SEC …

This was our go to book for biochemistry, aswell as newsholme and leach for metabolism and molecular biology of the cell as first year undergraduates at oxford

May he rest in peace

Helsinki scientific meeting (thanks Juhani Junttila) with one of the greatest groups I have ever worked with - The Lancet SCD Commission Research Group. A great session filled with great debate, data sharing, and big plans to come…!

Back by popular demand, Veera Rajagopal  is this week's guest on The Genetics Podcast!

We covered some of the most exciting new research from the past quarter, including what the future of GWAS might look like, and making sense of what is going in the non-coding genome.

Enjoyed telling the stories of some great human genetics papers published in the first quarter of this year.

The field is moving fast, and many exciting works are getting out every day. I enjoy curating papers that together paint a big picture of the field's progress and

We show the benefit of 12 lead holter monitoring for identifying long term risk due to the spontaneous type 1 pattern

Next in our series of recessive cardiomyopathy genes: RPL3L. A great example of a gene harboring a spectrum of phenotypes across allele zygosity!
#recessiveCMgenes

See the full details in our recent
Nature Cardiovascular Research study nature.com/articles/s4416…
Roddy Walsh 🇪🇺 🇺🇦 Francesco Mazzarotto

Honoured to become the new chair of the ⁦NWO Nieuws⁩ permanent committee on large-scale research infrastructure PC-GWI nwo.nl/en/news/cisca-…

Last year, we published our study of two calmodulinopathy mouse models, and now those mutant stains are available through Mutant Mouse Resource & Research Centers. Hope these are valuable resources. ahajournals.org/doi/10.1161/CI…
mmrrc.org/catalog/sds_te…
mmrrc.org/catalog/sds_te…

Terrific work Joel and great to see this out in print!

Links for previous selected #recessiveCMgenes summaries are below:
BAG5 – x.com/roddywalsh/sta…

LMOD2 – x.com/franz_mazz/sta…

NRAP - x.com/roddywalsh/sta…

And our paper on the spectrum of dominance and recessiveness in genetic cardiomyopathies at nature.com/articles/s4416…

Our latest #recessiveCMgenes summary is for TRIM63, probably the most prevalent biallelic gene for hypertrophic cardiomyopathy and one with several unique characteristics. See the full details in our recent Nature Cardiovascular Research study nature.com/articles/s4416…

I'm talking on 'Mendelian randomization: what it was, what it is, and what it should become', in person at Sir Ambrose Fleming Lecture Theatre UCL London, 25th April 3.30-6pm (with reception) or online (you can drink during it), MC'd by Dr Adam Rutherford forms.office.com/pages/response…

Per 15 maar mag ik het bestuur van het Domein Medische, Medisch-Biologische en Gezondheidswetenschappen (MMBG) De KNAW versterken en kijk uit naar de samenwerking met de andere bestuursleden: Connie Bezzina Sjaak Neefjes, Teun Bousema Elly Hol