Translational readthrough-inducing drugs (TRIDs), highlighting NV848, shows promise in restoring #CFTR function in #cysticfibrosis patients with #nonsensevariants, offering hope for personalized therapy where current treatments fall short. https://t.co/RHNzIHV7ZE #GIMO

New study assesses the quality of #YouTube videos on #epigenetics, highlighting accurate information, misconceptions, and unsupported claims. https://t.co/8ZoB2FY8mC

#Genetic #testing offers valuable insights for #psychiatric patients, yet challenges in result interpretation highlight the need for improved understanding of its risks and benefits. https://t.co/FPtRVUwuQn

Imagine if everything in life was as good as gold. It’s easy to invest in, could help grow your wealth, and protect it too. A timeless asset that stands strong when others may not.

New research highlights the importance of better patient-provider communication about #breast #cancer risk and bridging gaps in #polygenic #risk score literacy to boost personalized screening uptake. https://t.co/RfkW3DFb0I #PRS

Minimally invasive retrieval of #cardiomyocytes via ablation catheters enables successful DNA extraction & sequencing, paving the way for #mosaicism detection & novel cardiac genetic research https://t.co/tlP7Eo77Fh #GIMO #Epigenetics #ArrhythmogenicRightVentricularCardiomyopathy

A deep intronic variant in PHKG2 caused #pseudoexon inclusion and GSD IX γ2 in two siblings, highlighting a pathway to detect and reverse non-coding splicing defects using RNA-seq and #antisensetherapy. https://t.co/gaWu5wS5qP #GIMO #GlycogenStorageDisease #NonCodingVariants

Studies showed physicians were less likely to recommend surgery or intensive interventions when GS predicted neurodevelopmental or cancer risks for ill children with CHD. https://t.co/5UMRalkEFG #GIMO #CriticalCare #Pediatrics #Rationing #GenomicTesting #CongenitalHeartDisease

C. elegans model enables rapid reclassification of FH gene variants, offering a powerful tool to interpret #VUS and improve diagnosis in FH-associated metabolic diseases. https://t.co/yA2zb81tB2 #GIMO #FHfum1 #ClinicalVariant #CRISPR #VariantClassification #ClinicalDiagnosis

Applications and matches to combined residency programs are increasing, but #workforce needs remain unmet. https://t.co/A6m7GyHctj #MedicalEducation #ResidencyMatch

Improved healthcare has increased life expectancy for people with #DownSyndrome in #Latin American, but future population trends may be affected by access to prenatal screening and reproductive choices. https://t.co/C0ON4vcHh5 @brianskotko

Updating old standards for a new age. New consensus recommendations help guide the future of #newborn #screening. https://t.co/WtVkO3Ld03 #Genomicsequencing #DelphiTechnique #ICoNS

Comparison of Black and White families w/de novo 22q11.2DS reveals distinct non-allelic homologous recombination patterns. Unique LCR22 haplotypes in Black individuals may reduce NAHR risk, helping explain lower prevalence of 22q11.2DS in this population https://t.co/awFTCTecYP

Standardizing data access agreements is essential to keep human genomic data safe. https://t.co/4sm2ZOLCHM #DataStewardship @GA4GH

Can single-case experimental designs help overcome treatment barriers for individuals with #RareDisease? https://t.co/5qS74aZXce #Nof1studies #PersonalizedMedicine

ClinGen SCID Expert Panel developed gene-specific ACMG/AMP variant classification rules for 7 major SCID genes (ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, RAG2), resolving 17 ClinVar conflicts and clarifying classification of 85% of variants https://t.co/rZ3PaCjIXy

In >1,000 rare disease trios tested, ES and GS showed similar diagnostic yields (~34%) and turnaround time (~8 wks). But GS’s added utility (finding repeat expansions, mtDNA, SVs) wasn’t fully implemented, true potential is likely greater! https://t.co/TbhHtJVXny @RobinHayeems

#Clinicalalgorithm helps to identify people likely to have G6PD deficiency, helping improve diabetes monitoring where HbA1c may underestimate blood sugar levels, especially in patients with African ancestry. https://t.co/Ags2sMSGxV #GIMO #Glucose6PhosphateDehydrogenaseDeficiency

Broad genomic screening beyond ACMG secondary findings genes finds more actionable results (35% of patients) BUT generates 30 VUS per patient & takes 7-13x longer to analyze. High yield comes with high burden. Automation needed for clinical feasibility. https://t.co/HROHJVuM72

Among 532 rare disease diagnoses from genome sequencing, ~5% were potentially amenable to bespoke antisense oligonucleotide (ASO) therapy, and ~2% remained viable after delivery/disease review. Early diagnosis critical: most came too late. https://t.co/WBtlFPm8GT

ApplyPolygenicScore, a new R package, streamlines polygenic score calculation and visualization to empower broader use of genetic risk models beyond statistical genetics. https://t.co/fd9VWdVDP9 #GIMO #PolygenicRiskModel #PolygenicRiskScore #Cancer #BodyMassIndex