#Genomesequencing reveals Fabry disease–causing variants are more common than expected in Japan, suggesting late-onset disease in women may be substantially underdiagnosed. bit.ly/4rPX7TU #GIMO #FabryDisease #GLA #PopulationGenomics #LateOnsetDisease #PrecisionMedicine

Three decades of data reveal the clinical and genetic landscape of Fanconi anemia in Portugal, highlighting founder variants and the prognostic value of #chromosomeinstability testing. bit.ly/4yKnflR #GIMO #FanconiAnemia #FANCA #CytogeneticDiagnosis #DEBTest

A newly found #DNAmethylation episignature for White-Sutton syndrome improves diagnosis and helps reclassify uncertain POGZ variants, advancing precision care for rare neurodevelopmental disorders. bit.ly/4j6YFqx #GIMO #Epigenetics #POGZ #WHSUS #WhiteSuttonSyndrome

Population-specific optimization boosted polygenic risk score performance in East Asians, bringing more accurate and equitable breast cancer risk prediction one step closer to precision medicine bit.ly/4hkv2Rb #GIMO #BreastCancer #PopulationTransferability #AsianAncestry

Telegenetics can help close gaps in cancer genetic care: nearly 90% of local providers joined a collaborative model, highlighting its potential to expand access nationwide. #GIMO #PrimaryCare #Telehealth #HereditaryCancer #GermlineTesting #GeneticTesting

Genetic counselors call for standardized guidance on managing medical updates in #gametedonation to improve transparency, protect families, and support informed reproductive decisions. bit.ly/4iJwUnz #GIMO #GeneticCounseling #DonorConceivedPersons #ReproductiveEthics

Newborn screening has transformed child health, but expanding screening panels will require strong evidence, sustained policy support, and continued investment in rare disease research. bit.ly/3UVCxFq #GIMO #NewbornScreening #GenomicNewbornScreening