📢 Individuals living with a #CHD3 mutation have better social skills than previously thought. 🧬
#Genetics #RareDisease #EJHG

www.nature.com/articles/s41...

The planet’s brightness is dimming—changing rainfall, circulation and temperature

Analyses of U.K. Biobank and clinical cohorts show that rare genetic diseases can be misdiagnosed as common diseases, which may have implications for clinical trials as well as for diagnosis and treatment. Full study results: nej.md/3Jk1MvD

#MedSky #Genetics

tired: chapter meetings where people read academic papers for CV lines

wired: teach ins where we educate whoever wants to be educated, exchange pre-ai books, and download shit for folks from whatever databases we still have access to

Great Blue Heron fluffs its feathers and walks along the shoreline of San Francisco Bay, Emeryville, California.

#birds #nature #eastcoastkin

Why are some ACMG Annual Meeting sessions non-accredited? Accredited sessions meet strict #CME standards. Others, like industry-led talks or emerging tech, don’t qualify but still offer valuable insights. Learn more: tinyurl.com/bdecv9p8 #ACMGMtg26

Join us Aug. 27, 2025 at 11:00 AM ET on
@medliveofficial.bsky.social to learn from #MetabolicDisorders experts on the latest care standards and treatment innovations for #PKU. Gain insights to support long-term Phe control and patient well-being. Register: bit.ly/44EWhzw #Phenylketonuria #MedEd

ACMG publishes new Therapeutics Bulletin: “Lenmeldy (atidarsagene autotemcel) for individuals with early metachromatic leukodystrophy (MLD)” in GIM Open, the College’s gold open access journal: bit.ly/3zRe6iI #Therapeutics #metachromaticleukodystrophy #GIMOpen #medicalgenetics

Now available online the August episode of GenePod! Learn more about how Rhys Dore and his team gathered patients with variants in ELFN1 from around the world bit.ly/4lxRNzH

Complex genetic landscape of familial #chylomicronaemia syndrome revealed in the UK population, with regional and ethnic variation and nearly half of FCS cases linked to non-LPL genes. bit.ly/3JjesT0 #GIMO #Hypertriglyceridaemia #AutosomalRecessive

#GeneticWorkforce limitations call for paradigm shifts. “Genetics First,” program empowers non-geneticist physicians to play an active role in the process of genetic consultation and testing. bit.ly/4lEDv0p #GeneticEducation #TestingAccessibility

Some limitations of #variant #classification and suggestions to move closer to delivering on the promise of #precision #genomic medicine bit.ly/41O5i7l

Large-scale look at genomic newborn screening in the UK shows: ✅ Automated pipelines + manual review can scale to 100k babies ✅ High specificity (~97%) keeps false positives low ⚠️ Sensitivity (~80%) needs improvement for diverse variants bit.ly/4mOPxW2