Genetics in Medicine Open
@gimopenjournal.bsky.social
Genetics in Medicine Open, an official journal of @theacmg.bsky.social and companion journal of @GIMJournal.bsky.social
Site use policy: bit.ly/gimconduct.
Site use policy: bit.ly/gimconduct.
Survey of healthcare providers in Nepal reveals major barriers to genetic services, yet strong interest in further training highlights need for investment and expansion. bit.ly/4sLDxrZ #GIMO #CapacityBuilding #GeneticDisorders #GeneticServices #NeedsAssessment #Nepal
January 16, 2026 at 11:23 PM
Survey of healthcare providers in Nepal reveals major barriers to genetic services, yet strong interest in further training highlights need for investment and expansion. bit.ly/4sLDxrZ #GIMO #CapacityBuilding #GeneticDisorders #GeneticServices #NeedsAssessment #Nepal
Rapid genome-based testing with an average TAT of 4.9 days identified reportable findings in 33% of critically ill infants, supporting its utility across a broad patient population. bit.ly/49q3i9T #GIMO #GeneticTesting #Infants #Neonatology #RapidGenomicTesting
January 15, 2026 at 6:43 PM
Rapid genome-based testing with an average TAT of 4.9 days identified reportable findings in 33% of critically ill infants, supporting its utility across a broad patient population. bit.ly/49q3i9T #GIMO #GeneticTesting #Infants #Neonatology #RapidGenomicTesting
Reposted by Genetics in Medicine Open
Can't classify that RB1 👁️ missense variant? Luciferase assay measuring E2F1 inhibition discriminates pathogenic from benign. 5/16 VUS reclassified as likely pathogenic. bit.ly/3NjbxMo
January 13, 2026 at 8:01 PM
Can't classify that RB1 👁️ missense variant? Luciferase assay measuring E2F1 inhibition discriminates pathogenic from benign. 5/16 VUS reclassified as likely pathogenic. bit.ly/3NjbxMo
Reposted by Genetics in Medicine Open
Small cohorts and siloed data limit rare disease research. RARE-X: one platform, 74 conditions, 7,400+ participants across 93 countries. Patient-driven, symptom-based, HPO-mapped, and shareable, built for discovery! bit.ly/3Yy7xKe
January 13, 2026 at 12:16 AM
Small cohorts and siloed data limit rare disease research. RARE-X: one platform, 74 conditions, 7,400+ participants across 93 countries. Patient-driven, symptom-based, HPO-mapped, and shareable, built for discovery! bit.ly/3Yy7xKe
Reposted by Genetics in Medicine Open
Bigger CFTR panels, better CF screening? Not necessarily. 25 years of Massachusetts data show 98.7% sensitivity with just 39 variants. Expanded sequencing adds little yield but more cost and carrier detection. Simpler algorithm + good IRT cutoff = 🥇 bit.ly/45L23zw
January 9, 2026 at 11:37 PM
Bigger CFTR panels, better CF screening? Not necessarily. 25 years of Massachusetts data show 98.7% sensitivity with just 39 variants. Expanded sequencing adds little yield but more cost and carrier detection. Simpler algorithm + good IRT cutoff = 🥇 bit.ly/45L23zw
Reposted by Genetics in Medicine Open
How many cardiac genetics 🫀 diagnoses are missed? Reanalyzing data with broader gene lists, intronic regions, mitochondrial DNA, and RNA splicing picked up 6% more diagnoses in previously negative cases! bit.ly/49nZEMo
January 9, 2026 at 1:16 AM
How many cardiac genetics 🫀 diagnoses are missed? Reanalyzing data with broader gene lists, intronic regions, mitochondrial DNA, and RNA splicing picked up 6% more diagnoses in previously negative cases! bit.ly/49nZEMo
Reposted by Genetics in Medicine Open
New XLID gene: KLHL13 keeps Aurora Kinase B in check during mitosis. LOF results in genomic instability and abnormal brain development. The exciting part? AURKB inhibitors rescue both cell and zebrafish models🐟. A targetable pathway for NDDs! bit.ly/4pxzGMh
January 7, 2026 at 11:52 PM
New XLID gene: KLHL13 keeps Aurora Kinase B in check during mitosis. LOF results in genomic instability and abnormal brain development. The exciting part? AURKB inhibitors rescue both cell and zebrafish models🐟. A targetable pathway for NDDs! bit.ly/4pxzGMh
Reposted by Genetics in Medicine Open
New research calls for a standardized approach to #TTN variant interpretation and deeper investigation into missing heritability in individuals with heterozygous TTNtv. bit.ly/4qgLW5k #titinopathies #cardiomyopathies #neuromusculardisorders
January 6, 2026 at 11:36 PM
New research calls for a standardized approach to #TTN variant interpretation and deeper investigation into missing heritability in individuals with heterozygous TTNtv. bit.ly/4qgLW5k #titinopathies #cardiomyopathies #neuromusculardisorders
Reposted by Genetics in Medicine Open
Genotype-first approaches in genomic research enable a deeper, less biased understanding of #Mendelian diseases, improving assessment of their penetrance and presentation. bit.ly/45vtLAh #Genomics #AllofUS #PrecisionMedicine
January 6, 2026 at 1:02 AM
Genotype-first approaches in genomic research enable a deeper, less biased understanding of #Mendelian diseases, improving assessment of their penetrance and presentation. bit.ly/45vtLAh #Genomics #AllofUS #PrecisionMedicine
Reposted by Genetics in Medicine Open
Genetics of infertility: Rare de novo EMX2 variants cause hypogonadotropic hypogonadism, developmental delay and hearing loss. bit.ly/3MV47P5 #GeneticsInFertility #exome
December 26, 2025 at 7:07 PM
Genetics of infertility: Rare de novo EMX2 variants cause hypogonadotropic hypogonadism, developmental delay and hearing loss. bit.ly/3MV47P5 #GeneticsInFertility #exome
Reposted by Genetics in Medicine Open
What's new in mitochondrial genetics? MitoPhen v2 characterizes phenotypes in primary mitochondrial diseases and expands disease-gene relationships bit.ly/4aX9OWv
December 19, 2025 at 9:35 PM
What's new in mitochondrial genetics? MitoPhen v2 characterizes phenotypes in primary mitochondrial diseases and expands disease-gene relationships bit.ly/4aX9OWv
Reposted by Genetics in Medicine Open
December 17, 2025 at 10:32 PM
Short- and long-read genomic sequencing reveal diverse breakage-fusion mechanisms in 17 #ringchromosome cases, offering nucleotide-level insight into ring formation and cytogenomic instability. bit.ly/49ePnTN #GIMO #SRGS #LRGS #T2T #RingFormationMechanisms
December 16, 2025 at 6:54 PM
Short- and long-read genomic sequencing reveal diverse breakage-fusion mechanisms in 17 #ringchromosome cases, offering nucleotide-level insight into ring formation and cytogenomic instability. bit.ly/49ePnTN #GIMO #SRGS #LRGS #T2T #RingFormationMechanisms
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. bit.ly/48Ilco0 #GIMO
December 15, 2025 at 11:28 PM
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. bit.ly/48Ilco0 #GIMO
Reposted by Genetics in Medicine Open
New study assesses the quality of #YouTube videos on #epigenetics, highlighting accurate information, misconceptions, and unsupported claims. bit.ly/44rEH1i
December 12, 2025 at 8:54 PM
New study assesses the quality of #YouTube videos on #epigenetics, highlighting accurate information, misconceptions, and unsupported claims. bit.ly/44rEH1i
Reposted by Genetics in Medicine Open
#Genetic #testing offers valuable insights for #psychiatric patients, yet challenges in result interpretation highlight the need for improved understanding of its risks and benefits. bit.ly/4iP3BOm
December 11, 2025 at 6:19 PM
#Genetic #testing offers valuable insights for #psychiatric patients, yet challenges in result interpretation highlight the need for improved understanding of its risks and benefits. bit.ly/4iP3BOm
Reposted by Genetics in Medicine Open
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. bit.ly/4iHwkVe #PRS
December 9, 2025 at 4:49 PM
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. bit.ly/4iHwkVe #PRS
Minimally invasive retrieval of #cardiomyocytes via ablation catheters enables successful DNA extraction & sequencing, paving the way for #mosaicism detection & novel cardiac genetic research bit.ly/4pPYksf #GIMO #Epigenetics #ArrhythmogenicRightVentricularCardiomyopathy
December 5, 2025 at 9:28 PM
Minimally invasive retrieval of #cardiomyocytes via ablation catheters enables successful DNA extraction & sequencing, paving the way for #mosaicism detection & novel cardiac genetic research bit.ly/4pPYksf #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. bit.ly/4pMlNdS #GIMO #GlycogenStorageDisease #NonCodingVariants
December 3, 2025 at 9:42 PM
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. bit.ly/4pMlNdS #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. bit.ly/4iIsk71 #GIMO #CriticalCare #Pediatrics #Rationing #GenomicTesting #CongenitalHeartDisease
December 2, 2025 at 6:55 PM
Studies showed physicians were less likely to recommend surgery or intensive interventions when GS predicted neurodevelopmental or cancer risks for ill children with CHD. bit.ly/4iIsk71 #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. bit.ly/3M9lpHT #GIMO #FHfum1 #ClinicalVariant #CRISPR #VariantClassification #ClinicalDiagnosis
December 2, 2025 at 1:04 AM
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. bit.ly/3M9lpHT #GIMO #FHfum1 #ClinicalVariant #CRISPR #VariantClassification #ClinicalDiagnosis
Reposted by Genetics in Medicine Open
Applications and matches to combined residency programs are increasing, but #workforce needs remain unmet. bit.ly/4olon9u #MedicalEducation #ResidencyMatch
November 28, 2025 at 4:13 PM
Applications and matches to combined residency programs are increasing, but #workforce needs remain unmet. bit.ly/4olon9u #MedicalEducation #ResidencyMatch
Reposted by Genetics in Medicine Open
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. bit.ly/3LVbANL
November 26, 2025 at 7:32 PM
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. bit.ly/3LVbANL
Reposted by Genetics in Medicine Open
Updating old standards for a new age. New consensus recommendations help guide the future of #newborn #screening. bit.ly/4ojFAjA #Genomicsequencing #DelphiTechnique #ICoNS
November 25, 2025 at 9:27 PM
Updating old standards for a new age. New consensus recommendations help guide the future of #newborn #screening. bit.ly/4ojFAjA #Genomicsequencing #DelphiTechnique #ICoNS
Reposted by Genetics in Medicine Open
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 bit.ly/4p6OeCZ
November 24, 2025 at 8:52 PM
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 bit.ly/4p6OeCZ