Looking beyond the U.S. - What are the unmet needs of the PKU community worldwide? #NewbornScreening #Phenylketonuria

DMD duplications on carrier screening are not always pathogenic. Many are interspersed and benign. Assuming tandem equals disease risks misclassification. Long read sequencing reveals structure and can prevent unnecessary interventions.

In TSC, facial angiofibromas (FAF) and ungual fibromas (UF) follow distinct mutational routes—UV-driven in FAF, aging-related in UF. Recurrent KMT2C inactivation in FAF refines second-hit biology beyond TSC1/TSC2.

Why do some joints fuse after forming normally? FBN2 variants disrupt ECM, driving articular cells into bone. Data support haploinsufficiency, possible dominant negative effects and variable expressivity. Carpal and tarsal joints should be assessed.

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

Some limitations of #variant #classification and suggestions to move closer to delivering on the promise of #precision #genomic medicine

Over half of pathogenic variants in Emirati families are missing from global databases—highlighting the need for population-specific carrier screening to guide equitable public health strategies. #GIMO #GeneticVariation #RareGeneticDisorders @AhmadTayoun

#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. #GeneticEducation #TestingAccessibility

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

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. #GIMO #Hypertriglyceridaemia #AutosomalRecessive @drbilalbashir

Two sides of the same coin. There is a need to align #PGx resources with clinical genomics resources to better integrate #PGx into clinical practice. #pharmacogenomics #ClinGen #ClinPGx #precisionmedicine

Serum NfL levels are elevated in NPC1 and correlate with disease severity—supporting its use as a biomarker for monitoring progression and treatment response in clinical trials. #GIMO #NiemannPickDisease #TypeC1 #Serum #NeurofilamentLight

Recessive FANCM #CancerPredisposition syndrome, distinct from #FanconiAnemia, is associated with susceptibility to #HeadandNeckCancer and #ChemotherapyToxicity.

Out of sight out of mind. Shortening the time from consent to #results return may improve uptake of #secondaryfindings return. #variantclassification

Launching standardized #genetictesting guidelines for CKD improved early diagnosis, streamline care, and equitable access to personalized treatment across Ontario, Canada. #GIMO #ChronicKidneyDisease #MonogenicKidneyDisease #Nephrogenetics @DervlaConnaught

Don't forget to offer genetic testing to individuals with #dementia - consider a higher cutoff of 65y for early-onset dementia. #MemoryClinic #NeuroGenetics

Scoping review shows cardiovascular #genetictesting by non-genetics clinicians is limited; key barriers include education and cost, calling for targeted research and policy engagement. #GIMO #ImplementationScience #Barriers #Facilitators #Cardiovascular

Neurogenetics alert! Guidelines for diagnosis and management of COL4A1 and COL4A2-related disorders. #SmallVesselDisease #cerebrovascular

Now available online: our full August issue! Read more here:

More than meets the eye? Biallelic LoF variants in POC5 cause more than retinitis pigmentosa. Explore this novel syndromic ciliopathy with #endocrine and #neuromuscular findings.